#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	979595	979595	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:979595G>T	ENST00000379370.2	+	11	2156	c.2106G>T	c.(2104-2106)ccG>ccT	p.P702P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	702	Kazal-like 8. {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)		AGGACGGGCCGTGTGTCTGTG	0.711																																							uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(2104-2106)CCG>CCT		agrin precursor							84.0	93.0	90.0					1																	979595		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:979595G>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.2106G>T	1.37:g.979595G>T							p.P702P	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)	11	2156	+	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)	702			Kazal-like 8.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.2106G>T	CCDS30551.1																																																																																				0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		19	78	1	0	7.41877e-09	0.001882	1.12974e-08	19	78				
MIB2	142678	broad.mit.edu	37	1	1563448	1563448	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:1563448G>T	ENST00000357210.4	+	14	2120	c.1904G>T	c.(1903-1905)gGa>gTa	p.G635V	MIB2_ENST00000518681.1_Missense_Mutation_p.G627V|MIB2_ENST00000378712.1_Missense_Mutation_p.G512V|MIB2_ENST00000505820.2_Missense_Mutation_p.G692V|MIB2_ENST00000360522.4_Missense_Mutation_p.G600V|MIB2_ENST00000520777.1_Missense_Mutation_p.G688V|MIB2_ENST00000378710.3_Missense_Mutation_p.G599V|MIB2_ENST00000504599.1_Missense_Mutation_p.G591V|MIB2_ENST00000378708.1_Missense_Mutation_p.G541V|MIB2_ENST00000355826.5_Missense_Mutation_p.G678V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	635					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGGGCACTGGAGCCAGCGGC	0.642																																							uc001agg.2		NA																	0					0						c.(1903-1905)GGA>GTA		mindbomb homolog 2							35.0	41.0	39.0					1																	1563448		2191	4290	6481	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563448G>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1904G>T	1.37:g.1563448G>T	ENSP00000349741:p.Gly635Val					MIB2_uc001agh.2_Missense_Mutation_p.G621V|MIB2_uc001agi.2_Missense_Mutation_p.G631V|MIB2_uc001agj.2_Missense_Mutation_p.G476V|MIB2_uc001agk.2_Missense_Mutation_p.G570V|MIB2_uc001agl.1_Missense_Mutation_p.G591V|MIB2_uc001agm.2_Missense_Mutation_p.G512V|MIB2_uc010nyq.1_Missense_Mutation_p.G591V|MIB2_uc009vkh.2_Missense_Mutation_p.G441V|MIB2_uc001agn.2_Missense_Mutation_p.G267V|MIB2_uc001ago.2_5'Flank	p.G635V	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2031	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)	635			ANK 4.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.1904G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.90|10.90	1.480737|1.480737	0.26598|0.26598	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	T;T;T;T;T;T;T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61|.	3.68|3.68	0.175|0.175	0.15045|0.15045	Ankyrin repeat-containing domain (4);|.	0.112480|.	0.64402|.	N|.	0.000020|.	T|T	0.75781|0.75781	0.3896|0.3896	H|H	0.97983|0.97983	4.12|4.12	0.32817|0.32817	D|D	0.502192|0.502192	P;D;D;D;D;D;D|.	0.76494|.	0.93;0.99;0.999;0.995;0.999;0.987;0.986|.	P;D;D;D;D;P;P|.	0.78314|.	0.796;0.927;0.991;0.943;0.987;0.88;0.864|.	T|T	0.73773|0.73773	-0.3877|-0.3877	10|5	0.62326|.	D|.	0.03|.	-19.4164|-19.4164	0.2104|0.2104	0.00155|0.00155	0.2386:0.247:0.2674:0.247|0.2386:0.247:0.2674:0.247	.|.	600;541;512;627;688;621;635|.	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;.;MIB2_HUMAN|.	V|C	688;635;600;599;678;627;692;512;591;541|450	ENSP00000428660:G688V;ENSP00000349741:G635V;ENSP00000353713:G600V;ENSP00000367982:G599V;ENSP00000348081:G678V;ENSP00000428264:G627V;ENSP00000426103:G692V;ENSP00000367984:G512V;ENSP00000426128:G591V;ENSP00000367980:G541V|.	ENSP00000348081:G678V|.	G|W	+|+	2|3	0|0	MIB2|MIB2	1553311|1553311	0.415000|0.415000	0.25416|0.25416	0.002000|0.002000	0.10522|0.10522	0.023000|0.023000	0.10783|0.10783	1.446000|1.446000	0.35090|0.35090	0.189000|0.189000	0.20188|0.20188	0.542000|0.542000	0.68232|0.68232	GGA|TGG		0.642	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		9	28	1	0	5.4927e-09	0.004482	8.40171e-09	9	28				
MORN1	79906	broad.mit.edu	37	1	2317245	2317245	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:2317245C>A	ENST00000378531.3	-	5	623		c.e5+1		MORN1_ENST00000606372.1_Splice_Site|MORN1_ENST00000378529.3_Splice_Site	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CTCATACTCACTGAAAGAGCA	0.582																																							uc001ajb.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e5+1		MORN repeat containing 1							170.0	154.0	160.0					1																	2317245		2203	4300	6503	SO:0001630	splice_region_variant	79906							g.chr1:2317245C>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.449+1G>T	1.37:g.2317245C>A						MORN1_uc009vld.2_Splice_Site_p.Q126_splice|MORN1_uc001ajd.1_Splice_Site_p.Q150_splice|MORN1_uc010nyy.1_Splice_Site_p.R93_splice	p.Q150_splice	NM_024848	NP_079124	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	5	470	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)						A6NKZ6|Q8WW30|Q9H852	Splice_Site	SNP	ENST00000378531.3	37	c.449_splice	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833178	0.16820	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525;ENST00000449373	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5319	0.67931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORN1	2307105	0.993000	0.37304	0.935000	0.37517	0.060000	0.15804	3.964000	0.56780	2.288000	0.76882	0.460000	0.39030	.		0.582	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	Intron	17	61	1	0	1.96292e-10	0.001523	3.16092e-10	17	61				
PLCH2	9651	broad.mit.edu	37	1	2428140	2428140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:2428140G>T	ENST00000419816.2	+	14	2204	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E644*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E644*|PLCH2_ENST00000449969.1_Nonsense_Mutation_p.E617*|RP3-395M20.3_ENST00000442305.1_RNA			O75038	PLCH2_HUMAN	phospholipase C, eta 2	644	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CATAGAGATGGAGGGTGAGTG	0.672																																							uc001aji.1		NA																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1930-1932)GAG>TAG		phospholipase C, eta 2							20.0	24.0	23.0					1																	2428140		1927	4117	6044	SO:0001587	stop_gained	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2428140G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1930G>T	1.37:g.2428140G>T	ENSP00000389803:p.Glu644*					PLCH2_uc010nyz.1_Nonsense_Mutation_p.E432*|PLCH2_uc009vle.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajj.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajk.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajl.1_5'Flank	p.E644*	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	14	2204	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	644			PI-PLC Y-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Nonsense_Mutation	SNP	ENST00000419816.2	37	c.1930G>T		.	.	.	.	.	.	.	.	.	.	G	44	10.823180	0.99473	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	.	.	.	4.57	3.62	0.41486	.	0.180523	0.46758	D	0.000274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.2982	0.60309	0.0:0.1603:0.8397:0.0	.	.	.	.	X	617;644;644;491;432	.	ENSP00000278878:E432X	E	+	1	0	PLCH2	2418000	1.000000	0.71417	0.691000	0.30163	0.026000	0.11368	5.334000	0.65923	0.855000	0.35359	0.561000	0.74099	GAG		0.672	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		7	4	1	0	0.00621372	0.006214	0.00712032	7	4				
CAMTA1	23261	broad.mit.edu	37	1	7527927	7527927	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:7527927C>T	ENST00000303635.7	+	6	683	c.476C>T	c.(475-477)cCc>cTc	p.P159L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P159L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCATCATCCCCACCTTCCAC	0.547			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(475-477)CCC>CTC		calmodulin-binding transcription activator 1							260.0	235.0	243.0					1																	7527927		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7527927C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.476C>T	1.37:g.7527927C>T	ENSP00000306522:p.Pro159Leu						p.P159L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	6	683	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	159			CG-1.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.476C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999688	0.93227	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.26660	1.72;1.73	4.86	4.86	0.63082	CG-1 (2);	0.093874	0.41294	D	0.000911	T	0.51601	0.1684	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56019	-0.8048	10	0.66056	D	0.02	-16.7117	15.4832	0.75545	0.0:1.0:0.0:0.0	.	159	Q9Y6Y1	CMTA1_HUMAN	L	159	ENSP00000306522:P159L;ENSP00000402561:P159L	ENSP00000306522:P159L	P	+	2	0	CAMTA1	7450514	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.430000	0.80321	2.245000	0.73994	0.655000	0.94253	CCC		0.547	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		32	181	0	0	0	0.003271	0	32	181				
GPR157	80045	broad.mit.edu	37	1	9188741	9188741	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:9188741G>A	ENST00000377411.4	-	1	488	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	GPR157_ENST00000414642.2_Missense_Mutation_p.R116C	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGATCTGTGCGAGGCCCGCGC	0.672																																							uc001apq.1		NA																	0					0						c.(346-348)CGC>TGC		G protein-coupled receptor 157							22.0	24.0	23.0					1																	9188741		2198	4295	6493	SO:0001583	missense	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188741G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.346C>T	1.37:g.9188741G>A	ENSP00000366628:p.Arg116Cys					GPR157_uc010oad.1_Missense_Mutation_p.R116C|GPR157_uc001apr.2_Missense_Mutation_p.R116C|GPR157_uc001aps.2_Missense_Mutation_p.S164L	p.R116C	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	489	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	116			Cytoplasmic (Potential).		A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	c.346C>T	CCDS100.2	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467829	0.12402	.	.	ENSG00000180758	ENST00000377411;ENST00000414642	T;T	0.39406	1.08;1.08	3.64	1.67	0.24075	GPCR, family 2-like (1);GPCR, rhodopsin-like superfamily (1);	0.629739	0.15356	N	0.266690	T	0.25232	0.0613	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14012	0.009;0.007;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.15093	-1.0449	10	0.38643	T	0.18	-1.3283	4.4739	0.11726	0.1384:0.2527:0.6089:0.0	.	116;116;116	E7ENU8;A8KA23;Q5UAW9	.;.;GP157_HUMAN	C	116	ENSP00000366628:R116C;ENSP00000411172:R116C	ENSP00000366628:R116C	R	-	1	0	GPR157	9111328	0.000000	0.05858	0.007000	0.13788	0.124000	0.20399	-1.124000	0.03260	0.314000	0.23086	0.457000	0.33378	CGC		0.672	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		4	33	0	0	0	0.000602	0	4	33				
SLC25A33	84275	broad.mit.edu	37	1	9613776	9613776	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:9613776A>G	ENST00000302692.6	+	2	359	c.149A>G	c.(148-150)tAc>tGc	p.Y50C		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	50					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CGGACAGTCTACTATCCTCAG	0.478																																							uc001apw.2		NA																	0					0						c.(148-150)TAC>TGC		mitochondrial carrier protein MGC4399							106.0	100.0	102.0					1																	9613776		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613776A>G	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.149A>G	1.37:g.9613776A>G	ENSP00000306328:p.Tyr50Cys					SLC25A33_uc001apx.2_5'UTR	p.Y50C	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	372	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	50			Helical; Name=2; (Potential).|Solcar 1.			Missense_Mutation	SNP	ENST00000302692.6	37	c.149A>G	CCDS103.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563168	0.45694	.	.	ENSG00000171612	ENST00000302692	T	0.77229	-1.08	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.054197	0.85682	D	0.000000	T	0.76521	0.3999	M	0.68593	2.085	0.47511	D	0.999447	B	0.12013	0.005	B	0.13407	0.009	T	0.72007	-0.4420	10	0.38643	T	0.18	-7.5135	15.428	0.75069	1.0:0.0:0.0:0.0	.	50	Q9BSK2	S2533_HUMAN	C	50	ENSP00000306328:Y50C	ENSP00000306328:Y50C	Y	+	2	0	SLC25A33	9536363	1.000000	0.71417	0.976000	0.42696	0.969000	0.65631	6.413000	0.73308	2.236000	0.73375	0.524000	0.50904	TAC		0.478	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		21	46	0	0	0	0.002299	0	21	46				
AADACL4	343066	broad.mit.edu	37	1	12725977	12725977	+	Missense_Mutation	SNP	G	G	T	rs201735953	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:12725977G>T	ENST00000376221.1	+	4	455	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	152						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTTAGGTACCGCAAGCTTCCT	0.512																																							uc001auf.2		NA																	0					0						c.(454-456)CGC>CTC		arylacetamide deacetylase-like 4							108.0	105.0	106.0					1																	12725977		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12725977G>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.455G>T	1.37:g.12725977G>T	ENSP00000365395:p.Arg152Leu						p.R152L	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	455	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	152			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.455G>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343910	0.61073	.	.	ENSG00000204518	ENST00000376221	T	0.78246	-1.16	3.75	3.75	0.43078	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	D	0.92883	0.7736	H	0.99182	4.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.95710	0.8757	10	0.87932	D	0	-19.6766	14.7195	0.69294	0.0:0.0:1.0:0.0	.	152	Q5VUY2	ADCL4_HUMAN	L	152	ENSP00000365395:R152L	ENSP00000365395:R152L	R	+	2	0	AADACL4	12648564	0.999000	0.42202	0.926000	0.36857	0.326000	0.28443	3.026000	0.49689	1.908000	0.55244	0.561000	0.74099	CGC		0.512	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		17	56	1	0	5.3912e-06	0.006122	7.26217e-06	17	56				
PRAMEF11	440560	broad.mit.edu	37	1	12885040	12885040	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:12885040G>A	ENST00000535591.1	-	4	1266	c.1071C>T	c.(1069-1071)aaC>aaT	p.N357N	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	357					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCTCAGCAGGTTCTCCAGGG	0.537																																							uc001auk.2		NA																	0					0						c.(1069-1071)AAC>AAT		PRAME family member 11							38.0	34.0	35.0					1																	12885040		692	1589	2281	SO:0001819	synonymous_variant	440560							g.chr1:12885040G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1071C>T	1.37:g.12885040G>A							p.N357N	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1267	-			357			LRR 6.			Silent	SNP	ENST00000535591.1	37	c.1071C>T	CCDS53268.1																																																																																				0.537	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		29	392	0	0	0	0.002096	0	29	392				
CLCNKA	1187	broad.mit.edu	37	1	16350360	16350360	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:16350360C>A	ENST00000331433.4	+	3	185	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L56I|CLCNKA_ENST00000439316.2_Missense_Mutation_p.L56I|CLCNKA_ENST00000375692.1_Missense_Mutation_p.L56I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	56					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTGATGACCCTCGGGGTGCT	0.597																																							uc001axu.2		NA																	0				ovary(1)	1						c.(166-168)CTC>ATC		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						234.0	164.0	187.0					1																	16350360		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16350360C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.166C>A	1.37:g.16350360C>A	ENSP00000332771:p.Leu56Ile					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.L56I|CLCNKA_uc010obw.1_Missense_Mutation_p.L56I|CLCNKB_uc001axw.3_Intron	p.L56I	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	246	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	56			Helical; (Potential).		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.166C>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000313	0.35320	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	3.37	3.37	0.38596	Chloride channel, core (2);	0.162693	0.41001	D	0.000963	D	0.96021	0.8704	M	0.90759	3.145	0.58432	D	0.999991	B;B;B	0.33807	0.426;0.256;0.256	P;B;B	0.52424	0.698;0.154;0.154	D	0.97044	0.9759	10	0.66056	D	0.02	.	14.2536	0.66035	0.0:1.0:0.0:0.0	.	56;56;56	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	I	56	ENSP00000364844:L56I;ENSP00000410353:L56I;ENSP00000414445:L56I;ENSP00000332771:L56I	ENSP00000332771:L56I	L	+	1	0	CLCNKA	16222947	0.998000	0.40836	0.791000	0.31998	0.008000	0.06430	4.498000	0.60373	1.866000	0.54105	0.313000	0.20887	CTC		0.597	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			8	42	1	0	5.4927e-09	0.004482	8.40171e-09	8	42				
NBPF1	55672	broad.mit.edu	37	1	16902855	16902855	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:16902855C>G	ENST00000430580.2	-	19	2913	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	NBPF1_ENST00000432949.1_Missense_Mutation_p.D134H|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Missense_Mutation_p.D41H	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	676						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTGGCTCATCCGGAGTGAGG	0.572																																							uc009vos.1		NA																	0					0						c.(2026-2028)GAT>CAT		hypothetical protein LOC55672							366.0	406.0	392.0					1																	16902855		1511	2709	4220	SO:0001583	missense	55672					cytoplasm		g.chr1:16902855C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2026G>C	1.37:g.16902855C>G	ENSP00000474456:p.Asp676His					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.D134H|NBPF1_uc010oce.1_Missense_Mutation_p.D405H	p.D676H	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2914	-			676					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2026G>C																																																																																					0.572	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		28	685	0	0	0	0.00278	0	28	685				
CROCC	9696	broad.mit.edu	37	1	17263312	17263312	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:17263312G>C	ENST00000375541.5	+	9	1206	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCCGCGAGAAGGACCTGGCGC	0.672																																							uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1135-1137)AAG>AAC		ciliary rootlet coiled-coil							54.0	47.0	50.0					1																	17263312		2203	4299	6502	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17263312G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1137G>C	1.37:g.17263312G>C	ENSP00000364691:p.Lys379Asn					CROCC_uc009voy.1_Missense_Mutation_p.K82N|CROCC_uc009voz.1_Missense_Mutation_p.K142N	p.K379N	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	9	1206	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	379			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.1137G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883892	0.33255	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11495	2.77	4.1	3.1	0.35709	.	.	.	.	.	T	0.07863	0.0197	L	0.43152	1.355	0.26523	N	0.974398	P;P;B	0.35272	0.493;0.493;0.231	B;B;B	0.32465	0.146;0.146;0.12	T	0.18461	-1.0336	9	0.15952	T	0.53	.	5.2469	0.15502	0.1125:0.211:0.6765:0.0	.	242;242;379	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	N	379;260	ENSP00000364691:K379N	ENSP00000364691:K379N	K	+	3	2	CROCC	17135899	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.700000	0.37815	2.292000	0.77174	0.462000	0.41574	AAG		0.672	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	64	0	0	0	0.004672	0	3	64				
PADI6	353238	broad.mit.edu	37	1	17721512	17721512	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:17721512C>A	ENST00000434762.2	+	0	1454							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCAAGCGCCGGTGGAGCTC	0.537																																							uc001bak.1		NA																	0				breast(1)	1						c.(1402-1404)CCG>CAG		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						62.0	67.0	66.0					1																	17721512		2142	4293	6435			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721512C>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721512C>A							p.P468Q	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	13	1403	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	460					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.1403C>A																																																																																					0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		16	37	1	0	2.31682e-05	0.003163	2.98321e-05	16	37				
AKR7A3	22977	broad.mit.edu	37	1	19610580	19610580	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:19610580C>T	ENST00000361640.4	-	6	1284	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	248					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTTCTCCACCAGGGCAA	0.642																																							uc001bbv.1		NA																	0					0						c.(742-744)GTG>GTA		aldo-keto reductase family 7, member A3							53.0	52.0	52.0					1																	19610580		2199	4300	6499	SO:0001819	synonymous_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19610580C>T	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.744G>A	1.37:g.19610580C>T							p.V248V	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	821	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	248					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	c.744G>A	CCDS193.1																																																																																				0.642	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		5	36	0	0	0	0.000602	0	5	36				
KIF17	57576	broad.mit.edu	37	1	21042034	21042034	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:21042034C>G	ENST00000247986.2	-	2	640	c.330G>C	c.(328-330)caG>caC	p.Q110H	KIF17_ENST00000400463.3_Missense_Mutation_p.Q110H|KIF17_ENST00000375044.1_Missense_Mutation_p.Q10H			Q9P2E2	KIF17_HUMAN	kinesin family member 17	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGATGCCTCTCTGGGAGGGCG	0.662																																							uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(328-330)CAG>CAC		kinesin family member 17 isoform a							86.0	76.0	80.0					1																	21042034		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042034C>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.330G>C	1.37:g.21042034C>G	ENSP00000247986:p.Gln110His					KIF17_uc001bds.3_Missense_Mutation_p.Q110H	p.Q110H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	448	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	110			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.330G>C	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382575	0.42207	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.72942	-0.7;-0.7;-0.7	4.75	0.609	0.17575	Kinesin, motor domain (4);	0.000000	0.31199	U	0.008076	T	0.55000	0.1893	L	0.34521	1.04	0.36532	D	0.870801	P;P	0.40909	0.732;0.507	B;B	0.43658	0.426;0.392	T	0.52909	-0.8512	10	0.45353	T	0.12	.	1.6499	0.02769	0.1461:0.4703:0.1418:0.2417	.	110;110	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	H	10;110;110	ENSP00000364184:Q10H;ENSP00000383311:Q110H;ENSP00000247986:Q110H	ENSP00000247986:Q110H	Q	-	3	2	KIF17	20914621	0.991000	0.36638	0.104000	0.21259	0.483000	0.33249	1.339000	0.33885	-0.033000	0.13736	-0.169000	0.13324	CAG		0.662	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		5	38	0	0	0	0.000602	0	5	38				
HP1BP3	50809	broad.mit.edu	37	1	21072078	21072078	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:21072078G>A	ENST00000312239.5	-	12	1464	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	HP1BP3_ENST00000375003.2_Missense_Mutation_p.S290L|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	442					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GTCTTCTTCTGATGACTCATC	0.443																																							uc001bdw.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1324-1326)TCA>TTA		HP1-BP74							121.0	109.0	113.0					1																	21072078		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21072078G>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1325C>T	1.37:g.21072078G>A	ENSP00000312625:p.Ser442Leu					HP1BP3_uc001bdv.1_Missense_Mutation_p.S404L|HP1BP3_uc010odh.1_Missense_Mutation_p.S404L|HP1BP3_uc001bdy.1_Missense_Mutation_p.S442L|HP1BP3_uc010odf.1_Missense_Mutation_p.S101L|HP1BP3_uc010odg.1_Missense_Mutation_p.S290L	p.S442L	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	12	1465	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	442					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.1325C>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173415	0.78452	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003	T;T	0.47528	0.84;0.85	5.87	5.87	0.94306	.	2.877490	0.00954	N	0.003019	T	0.59905	0.2228	N	0.19112	0.55	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.44314	-0.9336	10	0.72032	D	0.01	-0.0724	16.0731	0.80948	0.0:0.0:1.0:0.0	.	442	Q5SSJ5	HP1B3_HUMAN	L	442;404;290	ENSP00000312625:S442L;ENSP00000364142:S290L	ENSP00000312625:S442L	S	-	2	0	HP1BP3	20944665	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.269000	0.51592	2.941000	0.99782	0.655000	0.94253	TCA		0.443	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		7	63	0	0	0	0.00308	0	7	63				
CD52	1043	broad.mit.edu	37	1	26644547	26644547	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:26644547C>A	ENST00000374213.2	+	1	100	c.39C>A	c.(37-39)ctC>ctA	p.L13L	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_5'UTR|UBXN11_ENST00000374222.1_5'UTR	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	13					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CCATCAGCCTCCTGGTTATGG	0.542																																							uc001bmc.2		NA																	0					0						c.(37-39)CTC>CTA		CD52 antigen precursor	Alemtuzumab(DB00087)						228.0	169.0	189.0					1																	26644547		2203	4300	6503	SO:0001819	synonymous_variant	1043				elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction		g.chr1:26644547C>A		CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"""CD molecules"""	1804	protein-coding gene	gene with protein product		114280	"""CD52 antigen (CAMPATH-1 antigen)"""	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.39C>A	1.37:g.26644547C>A						UBXN11_uc001bma.2_5'UTR|CD52_uc009vsg.1_RNA	p.L13L	NM_001803	NP_001794	P31358	CD52_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	1	137	+		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	13					Q5T138|Q9BW46	Silent	SNP	ENST00000374213.2	37	c.39C>A	CCDS30647.1																																																																																				0.542	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		10	69	1	0	0.00829132	0.008291	0.00946874	10	69				
PHC2	1912	broad.mit.edu	37	1	33799778	33799778	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:33799778A>T	ENST00000257118.5	-	9	1724	c.1671T>A	c.(1669-1671)aaT>aaA	p.N557K	PHC2_ENST00000485928.1_Intron|PHC2_ENST00000373418.3_Missense_Mutation_p.N22K|PHC2_ENST00000373422.3_Missense_Mutation_p.N163K|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000419414.2_Missense_Mutation_p.N558K|PHC2_ENST00000431992.1_Missense_Mutation_p.N528K|PHC2_ENST00000373416.1_Missense_Mutation_p.N22K|RN7SKP16_ENST00000410180.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	557					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)				GTGGTGGTTTATTCTCACCAT	0.572																																							uc001bxg.1		NA																	0				ovary(1)	1						c.(1669-1671)AAT>AAA		polyhomeotic-like 2 isoform a							135.0	131.0	132.0					1																	33799778		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799778A>T	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.1671T>A	1.37:g.33799778A>T	ENSP00000257118:p.Asn557Lys					PHC2_uc001bxh.1_Missense_Mutation_p.N529K|PHC2_uc009vuh.1_Missense_Mutation_p.N558K|PHC2_uc001bxe.1_Missense_Mutation_p.N22K|PHC2_uc001bxf.1_Intron	p.N557K	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			9	1725	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	557					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1671T>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287763	0.80803	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	6.17	5.06	0.68205	.	0.178314	0.64402	D	0.000014	T	0.24890	0.0604	L	0.35593	1.075	0.48395	D	0.999645	P;P;P	0.38922	0.651;0.651;0.651	B;B;B	0.30401	0.115;0.115;0.115	T	0.05937	-1.0855	10	0.19147	T	0.46	-15.1387	7.6559	0.28375	0.8405:0.0:0.1595:0.0	.	558;529;557	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	K	528;557;163;22;136;558;22	ENSP00000389436:N528K;ENSP00000257118:N557K;ENSP00000362521:N163K;ENSP00000362517:N22K;ENSP00000391440:N558K;ENSP00000362515:N22K	ENSP00000257118:N557K	N	-	3	2	PHC2	33572365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	1.165000	0.42670	0.533000	0.62120	AAT		0.572	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		11	78	0	0	0	0.008291	0	11	78				
ZSCAN20	7579	broad.mit.edu	37	1	33945118	33945119	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:33945118_33945119TG>CT	ENST00000361328.3	+	2	382_383	c.229_230TG>CT	c.(229-231)TGt>CTt	p.C77L	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.C77L|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	77	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTCTCTGCTGTCGTTGGCTG	0.614																																							uc001bxj.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(229-231)TGT>CTT		zinc finger protein 31																																				SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33945118_33945119TG>CT	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	Exception_encountered	1.37:g.33945118_33945119delinsCT	ENSP00000355053:p.Cys77Leu					ZSCAN20_uc001bxk.2_Missense_Mutation_p.C77L|ZSCAN20_uc009vui.2_Missense_Mutation_p.C77L	p.C77L	NM_145238	NP_660281	P17040	ZSC20_HUMAN			2	396_397	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	77			SCAN box.		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	DNP	ENST00000361328.3	37	c.229_230TG>CT	CCDS41300.1																																																																																				0.614	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		5	42	0	0	0	0.004672	0	5	42				
CSMD2	114784	broad.mit.edu	37	1	34276415	34276415	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:34276415G>T	ENST00000338325.1	-	3	458	c.46C>A	c.(46-48)Ccc>Acc	p.P16T	CSMD2_ENST00000373381.4_Missense_Mutation_p.P459T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	419						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGAAATTGGGGGAGGTGATG	0.537																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(1255-1257)CCC>ACC		CUB and Sushi multiple domains 2							121.0	119.0	120.0					1																	34276415		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34276415G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.46C>A	1.37:g.34276415G>T	ENSP00000340311:p.Pro16Thr					CSMD2_uc001bxm.1_Missense_Mutation_p.P459T	p.P419T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			10	1284	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	419			CUB 3.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1255C>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364220	0.82463	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.46451	0.87;0.87	5.55	4.64	0.57946	CUB (5);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73538	-0.3951	10	0.59425	D	0.04	.	13.3475	0.60582	0.0757:0.0:0.9243:0.0	.	419;459	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	459;16	ENSP00000362479:P459T;ENSP00000340311:P16T	ENSP00000241312:P419T	P	-	1	0	CSMD2	34049002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.757000	0.98924	1.360000	0.45960	0.580000	0.79431	CCC		0.537	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		21	89	1	0	2.27731e-05	0.001882	2.94362e-05	21	89				
ZMYM4	9202	broad.mit.edu	37	1	35884120	35884120	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:35884120T>C	ENST00000314607.6	+	29	4466	c.4386T>C	c.(4384-4386)acT>acC	p.T1462T	ZMYM4_ENST00000373297.2_Silent_p.T1373T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1462					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAGAATACTGACAATCCAC	0.413																																							uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(4384-4386)ACT>ACC		zinc finger protein 262							145.0	130.0	135.0					1																	35884120		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35884120T>C	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4386T>C	1.37:g.35884120T>C						ZMYM4_uc009vuu.2_Silent_p.T1430T|ZMYM4_uc001byu.2_Silent_p.T1138T|ZMYM4_uc009vuv.2_Silent_p.T1201T	p.T1462T	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			29	4466	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1462					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.4386T>C	CCDS389.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400892	0.25291	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.84	-1.46	0.08800	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6981	1.8422	0.03152	0.3323:0.0728:0.1875:0.4074	.	.	.	.	R	1121	.	.	X	+	1	0	ZMYM4	35656707	0.012000	0.17670	1.000000	0.80357	0.998000	0.95712	-1.235000	0.02928	0.073000	0.16731	0.528000	0.53228	TGA		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	51	0	0	0	0.001984	0	7	51				
AGO1	26523	broad.mit.edu	37	1	36349034	36349034	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:36349034A>T	ENST00000373204.4	+	1	225	c.12A>T	c.(10-12)ggA>ggT	p.G4G	AGO1_ENST00000373206.1_Intron	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	4					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)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGGAAGCGGGACCCTCGGGAG	0.637																																							uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(10-12)GGA>GGT		eukaryotic translation initiation factor 2C, 1							30.0	36.0	34.0					1																	36349034		2203	4300	6503	SO:0001819	synonymous_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36349034A>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.12A>T	1.37:g.36349034A>T						EIF2C1_uc001bzk.2_Intron	p.G4G	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			1	225	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	4					Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.12A>T	CCDS398.1																																																																																				0.637	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			9	40	0	0	0	0.006214	0	9	40				
MEAF6	64769	broad.mit.edu	37	1	37979099	37979099	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:37979099T>C	ENST00000296214.5	-	2	158	c.131A>G	c.(130-132)gAg>gGg	p.E44G	MEAF6_ENST00000448519.2_Missense_Mutation_p.E44G|MEAF6_ENST00000373075.2_Missense_Mutation_p.E44G|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Missense_Mutation_p.E22G|MEAF6_ENST00000373073.4_Missense_Mutation_p.E44G	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	44					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GTAGCTTCCCTCAAAAGCATA	0.418																																							uc001cbg.1		NA																	0					0						c.(130-132)GAG>GGG		MYST/Esa1-associated factor 6							189.0	164.0	172.0					1																	37979099		2203	4300	6503	SO:0001583	missense	64769				histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding	g.chr1:37979099T>C	BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.131A>G	1.37:g.37979099T>C	ENSP00000296214:p.Glu44Gly					MEAF6_uc001cbd.1_Missense_Mutation_p.E22G|MEAF6_uc001cbe.1_Missense_Mutation_p.E44G|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.E44G	p.E44G	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN			2	148	-			44			Potential.		B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	ENST00000296214.5	37	c.131A>G	CCDS59196.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589604	0.86851	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.85801	0.5781	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;D	0.91635	0.999;0.999;0.999;0.982	D	0.89587	0.3825	9	0.87932	D	0	-0.7817	13.2097	0.59817	0.0:0.0:0.0:1.0	.	44;44;44;22	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	G	44;44;22;44;44	.	ENSP00000296214:E44G	E	-	2	0	MEAF6	37751686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.355000	0.79434	1.830000	0.53286	0.459000	0.35465	GAG		0.418	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756		32	106	0	0	0	0.002096	0	32	106				
MACF1	23499	broad.mit.edu	37	1	39851375	39851375	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:39851375G>C	ENST00000372915.3	+	56	14220	c.14133G>C	c.(14131-14133)ctG>ctC	p.L4711L	MACF1_ENST00000289893.4_Silent_p.L3146L|MACF1_ENST00000539005.1_Silent_p.L2623L|MACF1_ENST00000361689.2_Silent_p.L2644L|MACF1_ENST00000545844.1_Silent_p.L2644L|MACF1_ENST00000567887.1_Silent_p.L4743L|MACF1_ENST00000317713.7_Silent_p.L2644L|MACF1_ENST00000564288.1_Silent_p.L4706L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4711					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAACGGCTGAGTGTCCAGT	0.512																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9436-9438)CTG>CTC		microfilament and actin filament cross-linker							77.0	74.0	75.0					1																	39851375		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851375G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14133G>C	1.37:g.39851375G>C						MACF1_uc010ois.1_Silent_p.L2644L|MACF1_uc001cda.1_Silent_p.L2531L|MACF1_uc001cdc.1_Silent_p.L1710L	p.L3146L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	9569	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4711					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.9438G>C		.	.	.	.	.	.	.	.	.	.	G	8.496	0.863104	0.17250	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-2.21	0.06973	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26916	-1.0089	4	.	.	.	.	4.1349	0.10166	0.3275:0.0:0.3421:0.3304	.	.	.	.	Q	1757	.	.	E	+	1	0	MACF1	39623962	0.997000	0.39634	0.910000	0.35882	0.945000	0.59286	0.343000	0.19944	-0.739000	0.04809	0.655000	0.94253	GAG		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	45	0	0	0	0.00308	0	7	45				
HIVEP3	59269	broad.mit.edu	37	1	42048667	42048667	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:42048667T>C	ENST00000372583.1	-	4	2687	c.1802A>G	c.(1801-1803)tAc>tGc	p.Y601C	HIVEP3_ENST00000372584.1_Missense_Mutation_p.Y601C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Y601C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Y601C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	601	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGAACTGTATTCCCCTCC	0.572																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1801-1803)TAC>TGC		human immunodeficiency virus type I enhancer							75.0	74.0	74.0					1																	42048667		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048667T>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1802A>G	1.37:g.42048667T>C	ENSP00000361664:p.Tyr601Cys					HIVEP3_uc001cha.3_Missense_Mutation_p.Y601C|HIVEP3_uc001cgy.2_RNA	p.Y601C	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3015	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	601			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1802A>G	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662371	0.29515	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.45	4.45	0.53987	.	0.000000	0.45606	D	0.000349	T	0.36853	0.0982	L	0.44542	1.39	0.33406	D	0.577995	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.49163	-0.8968	10	0.46703	T	0.11	-13.8386	13.544	0.61693	0.0:0.0:0.0:1.0	.	601;601	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	601	ENSP00000361665:Y601C;ENSP00000361664:Y601C;ENSP00000247584:Y601C;ENSP00000410828:Y601C	ENSP00000247584:Y601C	Y	-	2	0	HIVEP3	41821254	0.948000	0.32251	1.000000	0.80357	0.767000	0.43475	1.110000	0.31147	1.869000	0.54173	0.459000	0.35465	TAC		0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		24	46	0	0	0	0.00333	0	24	46				
PTCH2	8643	broad.mit.edu	37	1	45292685	45292685	+	Missense_Mutation	SNP	C	C	A	rs371160711		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45292685C>A	ENST00000372192.3	-	17	2714	c.2584G>T	c.(2584-2586)Gtg>Ttg	p.V862L	PTCH2_ENST00000447098.2_Missense_Mutation_p.V862L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	862					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCACCCACACGGTCAGCCCC	0.617									Basal Cell Nevus syndrome																														uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2584-2586)GTG>TTG		patched 2							133.0	136.0	135.0					1																	45292685		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292685C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2584G>T	1.37:g.45292685C>A	ENSP00000361266:p.Val862Leu					PTCH2_uc010olg.1_Missense_Mutation_p.V560L	p.V862L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			17	2596	-	Acute lymphoblastic leukemia(166;0.155)		862			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2584G>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391915	0.42410	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92647	-3.06;-3.08	4.05	2.12	0.27331	.	0.551605	0.16625	N	0.206318	D	0.89269	0.6667	L	0.58101	1.795	0.39499	D	0.968165	B;B	0.15473	0.013;0.009	B;B	0.21917	0.036;0.037	D	0.85797	0.1371	10	0.66056	D	0.02	-0.9942	9.6922	0.40136	0.0:0.8164:0.0:0.1836	.	862;862	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	L	862	ENSP00000389703:V862L;ENSP00000361266:V862L	ENSP00000361266:V862L	V	-	1	0	PTCH2	45065272	0.991000	0.36638	0.919000	0.36401	0.951000	0.60555	3.630000	0.54273	0.623000	0.30267	0.462000	0.41574	GTG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		13	134	1	0	9.31168e-06	0.001855	1.24063e-05	13	134				
EIF2B3	8891	broad.mit.edu	37	1	45407298	45407298	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45407298C>A	ENST00000360403.2	-	4	460	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	EIF2B3_ENST00000372183.3_Missense_Mutation_p.V112F|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	112					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTAAGGCAACGTCTGTTATC	0.418																																					Colon(26;357 658 2581 11857 12657)	Colon(26;357 658 2581 11857 12657)	uc001cmt.1		NA																	0				ovary(1)	1						c.(334-336)GTT>TTT		eukaryotic translation initiation factor 2B,							205.0	183.0	191.0					1																	45407298		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407298C>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.334G>T	1.37:g.45407298C>A	ENSP00000353575:p.Val112Phe					EIF2B3_uc001cmu.1_Missense_Mutation_p.V112F|EIF2B3_uc001cmv.1_Missense_Mutation_p.V112F|EIF2B3_uc001cmw.2_Missense_Mutation_p.V112F	p.V112F	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			4	461	-	Acute lymphoblastic leukemia(166;0.155)		112					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.334G>T	CCDS517.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229596	0.95173	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	T;T;T	0.72835	-0.69;-0.69;-0.69	5.41	5.41	0.78517	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.41573	1.285	0.80722	D	1	P;D;P	0.71674	0.928;0.998;0.587	P;D;B	0.67900	0.646;0.954;0.443	T	0.68700	-0.5339	10	0.08179	T	0.78	-24.9607	19.1869	0.93647	0.0:1.0:0.0:0.0	.	112;112;112	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	F	112	ENSP00000353575:V112F;ENSP00000361257:V112F;ENSP00000361256:V112F	ENSP00000353575:V112F	V	-	1	0	EIF2B3	45179885	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.272000	0.78516	2.539000	0.85634	0.591000	0.81541	GTT		0.418	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		15	71	1	0	6.94344e-10	0.006122	1.10095e-09	15	71				
MUTYH	4595	broad.mit.edu	37	1	45798843	45798843	+	Splice_Site	SNP	C	C	A	rs372267274		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45798843C>A	ENST00000372098.3	-	5	513		c.e5-1		MUTYH_ENST00000456914.2_Splice_Site|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372100.5_Splice_Site|MUTYH_ENST00000372115.3_Splice_Site|MUTYH_ENST00000372104.1_Splice_Site|MUTYH_ENST00000450313.1_Splice_Site|MUTYH_ENST00000372110.3_Splice_Site|MUTYH_ENST00000354383.6_Splice_Site|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000528013.2_Splice_Site|MUTYH_ENST00000448481.1_Splice_Site|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000355498.2_Splice_Site			Q9UIF7	MUTYH_HUMAN	mutY homolog						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAGACCCACACTGGGGGAAAG	0.617			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0	GRCh37	CS031780|CS042821	MUTYH	S		c.e5-1	BER_DNA_glycosylases	mutY homolog isoform 1							99.0	97.0	98.0					1																	45798843		2203	4300	6503	SO:0001630	splice_region_variant	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45798843C>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.380-1G>T	1.37:g.45798843C>A						MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Splice_Site_p.V102_splice|MUTYH_uc009vxo.2_Splice_Site_p.V102_splice|MUTYH_uc001cng.2_Splice_Site_p.V113_splice|MUTYH_uc001cnj.2_Splice_Site_p.V10_splice|MUTYH_uc001cni.2_Splice_Site_p.V102_splice|MUTYH_uc001cnh.2_Splice_Site_p.V103_splice|MUTYH_uc001cno.2_Splice_Site_p.V10_splice|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Splice_Site_p.V116_splice|MUTYH_uc009vxp.2_Splice_Site_p.V130_splice|MUTYH_uc001cnn.2_Splice_Site_p.V117_splice	p.V127_splice	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			5	596	-	Acute lymphoblastic leukemia(166;0.155)							D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Splice_Site	SNP	ENST00000372098.3	37	c.380_splice	CCDS520.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678734	0.68042	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000435155;ENST00000528013	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2734	0.94019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUTYH	45571430	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	7.376000	0.79658	2.537000	0.85549	0.655000	0.94253	.		0.617	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	Intron	14	64	1	0	1.62849e-17	0.004007	3.03337e-17	14	64				
CCDC163P	126661	broad.mit.edu	37	1	45962293	45962293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45962293G>A	ENST00000432082.1	-	4	629	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	CCDC163P_ENST00000488405.2_Nonsense_Mutation_p.Q89*|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_Nonsense_Mutation_p.Q89*					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						TCCTGGTGCTGGCCTGCAGAT	0.542																																							uc001cnw.2		NA																	0					0						c.(265-267)CAG>TAG		hypothetical protein LOC126661							51.0	56.0	54.0					1																	45962293		1978	4161	6139	SO:0001587	stop_gained	126661							g.chr1:45962293G>A	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.265C>T	1.37:g.45962293G>A	ENSP00000435596:p.Gln89*					CCDC163P_uc001cnt.2_RNA|CCDC163P_uc001cnu.2_RNA|CCDC163P_uc009vxt.1_Nonsense_Mutation_p.Q89*|CCDC163P_uc001cnv.2_RNA|CCDC163P_uc009vxu.1_RNA	p.Q89*	NM_001102601	NP_001096071					4	630	-									Nonsense_Mutation	SNP	ENST00000432082.1	37	c.265C>T		.	.	.	.	.	.	.	.	.	.	G	18.06	3.538275	0.65085	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.9262	0.63964	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000431736:Q89X	Q	-	1	0	CCDC163P	45734880	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	4.082000	0.57635	2.737000	0.93849	0.637000	0.83480	CAG		0.542	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000349850.4	NM_001102601		4	6	0	0	0	0.000248	0	4	6				
ELAVL4	1996	broad.mit.edu	37	1	50666530	50666531	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:50666530_50666531CC>AA	ENST00000371823.4	+	7	1047_1048	c.823_824CC>AA	c.(823-825)CCa>AAa	p.P275K	ELAVL4_ENST00000371824.1_Missense_Mutation_p.P261K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P261K|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P278K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P280K|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P264K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P266K	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	275					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAGGTTCTCCCCAATTACCATT	0.54																																							uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(823-825)CCA>AAA		ELAV-like 4 isoform 1																																				SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666530_50666531CC>AA	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	Exception_encountered	1.37:g.50666530_50666531delinsAA	ENSP00000360888:p.Pro275Lys					ELAVL4_uc001cry.3_Missense_Mutation_p.P264K|ELAVL4_uc001crz.3_Missense_Mutation_p.P261K|ELAVL4_uc001csa.3_Missense_Mutation_p.P278K|ELAVL4_uc001csc.3_Missense_Mutation_p.P261K|ELAVL4_uc010omz.1_Missense_Mutation_p.P266K	p.P275K	NM_021952	NP_068771	P26378	ELAV4_HUMAN			7	1091_1092	+			275					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	DNP	ENST00000371823.4	37	c.823_824CC>AA	CCDS553.1																																																																																				0.540	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		14	110	0	0	0	0.004672	0	14	110				
TTC39A	22996	broad.mit.edu	37	1	51767347	51767347	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:51767347T>C	ENST00000447632.2	-	12	1106	c.1058A>G	c.(1057-1059)cAc>cGc	p.H353R	TTC39A_ENST00000262675.7_Missense_Mutation_p.H290R|TTC39A_ENST00000413473.2_Missense_Mutation_p.H321R|TTC39A_ENST00000371750.5_Missense_Mutation_p.H318R|TTC39A_ENST00000451380.1_Missense_Mutation_p.H317R|TTC39A_ENST00000371747.3_Missense_Mutation_p.H352R|TTC39A_ENST00000262676.5_3'UTR			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	353								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						GTAGCACATGTGGTGGAACTG	0.607																																							uc001csl.2		NA																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(1057-1059)CAC>CGC		tetratricopeptide repeat domain 39A isoform 2							67.0	70.0	69.0					1																	51767347		2120	4221	6341	SO:0001583	missense	22996						binding	g.chr1:51767347T>C	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.1058A>G	1.37:g.51767347T>C	ENSP00000393952:p.His353Arg					TTC39A_uc001csk.2_Missense_Mutation_p.H318R|TTC39A_uc010ond.1_Missense_Mutation_p.H290R|TTC39A_uc010one.1_Missense_Mutation_p.H317R|TTC39A_uc010onf.1_Missense_Mutation_p.H321R|TTC39A_uc001csn.2_Missense_Mutation_p.H352R|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Missense_Mutation_p.H290R	p.H353R	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			12	1163	-			353					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.1058A>G		.	.	.	.	.	.	.	.	.	.	T	24.9	4.583840	0.86748	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.87	4.8	4.8	0.61643	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.994;0.996;0.992;0.992;0.996;0.986	T	0.74411	-0.3674	10	0.27785	T	0.31	-15.6674	13.8104	0.63260	0.0:0.0:0.0:1.0	.	321;317;290;317;353;318	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	R	353;321;290;317;318;352	ENSP00000393952:H353R;ENSP00000406144:H321R;ENSP00000262675:H290R;ENSP00000397207:H317R;ENSP00000360815:H318R;ENSP00000360812:H352R	ENSP00000262675:H290R	H	-	2	0	TTC39A	51539935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.855000	0.86950	1.925000	0.55765	0.379000	0.24179	CAC		0.607	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			12	22	0	0	0	0.000978	0	12	22				
NRD1	4898	broad.mit.edu	37	1	52301822	52301822	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:52301822C>T	ENST00000354831.7	-	5	1086	c.897G>A	c.(895-897)ctG>ctA	p.L299L	MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Silent_p.L99L|NRD1_ENST00000539524.1_Silent_p.L167L|NRD1_ENST00000352171.7_Silent_p.L231L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	230					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAGTGTGCCAGCCCCGGCA	0.418																																							uc001ctc.3		NA																	0					0						c.(895-897)CTG>CTA		nardilysin isoform a							52.0	58.0	56.0					1																	52301822		2203	4300	6503	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52301822C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.897G>A	1.37:g.52301822C>T						NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.L231L|NRD1_uc001cte.2_Silent_p.L167L|NRD1_uc001ctf.2_Silent_p.L231L|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.L99L	p.L299L	NM_002525	NP_002516	O43847	NRDC_HUMAN			5	1219	-			230					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.897G>A	CCDS559.1																																																																																				0.418	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		16	48	0	0	0	0.004007	0	16	48				
CC2D1B	200014	broad.mit.edu	37	1	52824708	52824708	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:52824708G>A	ENST00000371586.2	-	11	1386	c.1248C>T	c.(1246-1248)cgC>cgT	p.R416R	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.R416R	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	416						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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCTTGGCAATGCGCTCATGCA	0.662																																							uc001ctq.1		NA																	0				ovary(2)	2						c.(1246-1248)CGC>CGT		coiled-coil and C2 domain containing 1B							23.0	23.0	23.0					1																	52824708		2193	4282	6475	SO:0001819	synonymous_variant	200014							g.chr1:52824708G>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1248C>T	1.37:g.52824708G>A						CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Silent_p.R107R	p.R416R	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			11	1386	-			416					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.1248C>T	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	7.239	0.600834	0.13939	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.56	-1.32	0.09201	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26395	-1.0104	4	.	.	.	-8.6487	2.1602	0.03823	0.1575:0.1129:0.2822:0.4474	.	.	.	.	V	203;336	.	.	A	-	2	0	CC2D1B	52597296	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	0.516000	0.22817	-0.087000	0.12528	0.462000	0.41574	GCA		0.662	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		7	20	0	0	0	0.001984	0	7	20				
C8A	731	broad.mit.edu	37	1	57333306	57333306	+	Silent	SNP	C	C	G	rs142045980		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:57333306C>G	ENST00000361249.3	+	2	198	c.102C>G	c.(100-102)ccC>ccG	p.P34P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	34					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGCTACACCCGCAGCAGTTA	0.473																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(100-102)CCC>CCG		complement component 8, alpha polypeptide							73.0	66.0	68.0					1																	57333306		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333306C>G	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.102C>G	1.37:g.57333306C>G							p.P34P	NM_000562	NP_000553	P07357	CO8A_HUMAN			2	234	+			34					A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.102C>G	CCDS606.1																																																																																				0.473	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		5	32	0	0	0	0.000602	0	5	32				
FOXD3	27022	broad.mit.edu	37	1	63789224	63789224	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:63789224C>G	ENST00000371116.2	+	1	495	c.495C>G	c.(493-495)agC>agG	p.S165R	RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	165					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGACCCTGAGCGGCATCTGCG	0.587																																					Pancreas(68;276 1750 11966 31252)	Pancreas(68;276 1750 11966 31252)	uc001dax.2		NA																	0					0						c.(493-495)AGC>AGG		forkhead box D3							68.0	76.0	73.0					1																	63789224		2203	4300	6503	SO:0001583	missense	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63789224C>G	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.495C>G	1.37:g.63789224C>G	ENSP00000360157:p.Ser165Arg						p.S165R	NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN			1	495	+			165			Fork-head.		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	ENST00000371116.2	37	c.495C>G	CCDS624.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688928	0.48097	.	.	ENSG00000187140	ENST00000371116	D	0.95853	-3.83	2.9	0.921	0.19403	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.95236	0.8455	M	0.64630	1.985	0.58432	D	0.999993	D	0.76494	0.999	D	0.76575	0.988	D	0.94087	0.7349	10	0.87932	D	0	.	9.0771	0.36529	0.0:0.7996:0.0:0.2004	.	165	Q9UJU5	FOXD3_HUMAN	R	165	ENSP00000360157:S165R	ENSP00000360157:S165R	S	+	3	2	FOXD3	63561812	0.193000	0.23313	1.000000	0.80357	0.987000	0.75469	-0.513000	0.06305	0.243000	0.21327	0.404000	0.27445	AGC		0.587	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			13	77	0	0	0	0.001855	0	13	77				
SLC44A5	204962	broad.mit.edu	37	1	75672357	75672357	+	Missense_Mutation	SNP	C	C	A	rs78856933	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:75672357C>A	ENST00000370855.5	-	24	2208	c.2095G>T	c.(2095-2097)Gta>Tta	p.V699L	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.V569L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	699					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V699L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTAGGGGTTACGAAGTAGGGT	0.413																																							uc001dgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2095-2097)GTA>TTA		solute carrier family 44, member 5 isoform A							196.0	187.0	190.0					1																	75672357		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75672357C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.2095G>T	1.37:g.75672357C>A	ENSP00000359892:p.Val699Leu					SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Missense_Mutation_p.V693L|SLC44A5_uc010orb.1_Missense_Mutation_p.V569L	p.V699L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			24	2239	-			699			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2095G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246004	0.22796	.	.	ENSG00000137968	ENST00000370855;ENST00000535611;ENST00000535790	T;T	0.14022	2.96;2.54	5.33	-1.24	0.09435	.	0.260999	0.48767	N	0.000165	T	0.04497	0.0123	L	0.53249	1.67	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23261	-1.0193	10	0.62326	D	0.03	-1.3427	6.3083	0.21151	0.0:0.2643:0.1195:0.6162	.	693;699	B7Z5Y4;Q8NCS7	.;CTL5_HUMAN	L	699;569;692	ENSP00000359892:V699L;ENSP00000443090:V569L	ENSP00000359892:V699L	V	-	1	0	SLC44A5	75444945	1.000000	0.71417	0.981000	0.43875	0.192000	0.23643	3.231000	0.51294	-0.518000	0.06452	-1.215000	0.01618	GTA		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		25	56	1	0	8.58068e-18	0.007291	1.60723e-17	25	56				
MSH4	4438	broad.mit.edu	37	1	76345788	76345788	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:76345788G>A	ENST00000263187.3	+	13	1835	c.1731G>A	c.(1729-1731)atG>atA	p.M577I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	577					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TAATTAAAATGAATGAAAGAT	0.269								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(1729-1731)ATG>ATA	MMR	mutS homolog 4							51.0	51.0	51.0					1																	76345788		2194	4262	6456	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76345788G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1731G>A	1.37:g.76345788G>A	ENSP00000263187:p.Met577Ile						p.M577I	NM_002440	NP_002431	O15457	MSH4_HUMAN			13	1772	+			577					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1731G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324263	0.60634	.	.	ENSG00000057468	ENST00000263187	D	0.88664	-2.41	5.51	5.51	0.81932	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.043896	0.85682	D	0.000000	D	0.82761	0.5107	M	0.71036	2.16	0.47547	D	0.999459	B	0.29270	0.24	B	0.33960	0.173	T	0.79274	-0.1871	10	0.18710	T	0.47	-20.1957	12.7215	0.57144	0.0752:0.0:0.9248:0.0	.	577	O15457	MSH4_HUMAN	I	577	ENSP00000263187:M577I	ENSP00000263187:M577I	M	+	3	0	MSH4	76118376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.600000	0.87896	0.650000	0.86243	ATG		0.269	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		4	49	0	0	0	0.000248	0	4	49				
ZZZ3	26009	broad.mit.edu	37	1	78034024	78034024	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:78034024C>A	ENST00000370801.3	-	13	2934	c.2459G>T	c.(2458-2460)gGc>gTc	p.G820V	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.G326V	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	820					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACCTTAAAGCCCACATGTTG	0.328																																							uc001dhq.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2458-2460)GGC>GTC		zinc finger, ZZ-type containing 3							84.0	88.0	87.0					1																	78034024		2203	4299	6502	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78034024C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2459G>T	1.37:g.78034024C>A	ENSP00000359837:p.Gly820Val					ZZZ3_uc001dhr.2_Missense_Mutation_p.G326V|ZZZ3_uc001dhp.2_Missense_Mutation_p.G819V	p.G820V	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			13	2935	-			820			ZZ-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2459G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756608	0.89843	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.90788	-2.73;-2.73	5.7	5.7	0.88788	Zinc finger, ZZ-type (3);	0.054617	0.64402	N	0.000001	D	0.96334	0.8804	M	0.89785	3.06	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	0.96232	0.9169	10	0.87932	D	0	.	20.2148	0.98293	0.0:1.0:0.0:0.0	.	326;820;819	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	V	820;326	ENSP00000359837:G820V;ENSP00000359834:G326V	ENSP00000359834:G326V	G	-	2	0	ZZZ3	77806612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.216000	0.77974	2.850000	0.98022	0.650000	0.86243	GGC		0.328	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		8	67	1	0	0.000442599	0.006214	0.000529778	8	67				
LPHN2	23266	broad.mit.edu	37	1	82450396	82450396	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:82450396G>C	ENST00000370728.1	+	22	4044		c.e22+1		LPHN2_ENST00000370730.1_Splice_Site|LPHN2_ENST00000335786.5_Splice_Site|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000370713.1_Splice_Site|LPHN2_ENST00000271029.4_Splice_Site|LPHN2_ENST00000370727.1_Splice_Site|LPHN2_ENST00000319517.6_Splice_Site|LPHN2_ENST00000370715.1_Splice_Site|LPHN2_ENST00000370717.2_Splice_Site|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000370721.1_Splice_Site|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Splice_Site			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGCACACAGGTAACAAAGAG	0.428																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.e19+1		latrophilin 2 precursor							112.0	103.0	106.0					1																	82450396		2203	4300	6503	SO:0001630	splice_region_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450396G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3399+1G>C	1.37:g.82450396G>C						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Splice_Site_p.Q1120_splice|LPHN2_uc001div.2_Splice_Site_p.Q1120_splice|LPHN2_uc009wcd.2_Splice_Site_p.Q1120_splice|LPHN2_uc001diw.2_Splice_Site_p.Q704_splice	p.Q1120_splice	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	19	3541	+								A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Splice_Site	SNP	ENST00000370728.1	37	c.3360_splice		.	.	.	.	.	.	.	.	.	.	G	22.9	4.348513	0.82132	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786;ENST00000449420;ENST00000402328	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9116	0.97026	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPHN2	82222984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.716000	0.92895	0.484000	0.47621	.		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	Intron	6	52	0	0	0	0.001168	0	6	52				
PRKACB	5567	broad.mit.edu	37	1	84668407	84668407	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:84668407A>T	ENST00000370689.2	+	8	948	c.684A>T	c.(682-684)ctA>ctT	p.L228L	PRKACB_ENST00000370688.3_Silent_p.L228L|PRKACB_ENST00000370680.1_Silent_p.L234L|PRKACB_ENST00000370685.3_Silent_p.L275L|PRKACB_ENST00000370682.3_Silent_p.L232L|PRKACB_ENST00000394838.2_Silent_p.L235L|PRKACB_ENST00000394839.2_Silent_p.L198L	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TAGGAGTGCTAATCTATGAAA	0.373																																							uc001djj.2		NA																	0				lung(2)|ovary(1)	3						c.(682-684)CTA>CTT		cAMP-dependent protein kinase catalytic subunit							158.0	154.0	155.0					1																	84668407		2203	4300	6503	SO:0001819	synonymous_variant	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668407A>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.684A>T	1.37:g.84668407A>T						PRKACB_uc001djl.2_Silent_p.L275L|PRKACB_uc010ort.1_Silent_p.L235L|PRKACB_uc001djn.2_Silent_p.L232L|PRKACB_uc010oru.1_Silent_p.L216L|PRKACB_uc001djp.2_Silent_p.L234L|PRKACB_uc001djq.2_Silent_p.L198L|PRKACB_uc010orv.1_Silent_p.L215L|PRKACB_uc001dji.2_Silent_p.L228L|PRKACB_uc001djk.2_Silent_p.L275L|PRKACB_uc009wcf.1_Silent_p.L234L	p.L228L	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	948	+			228			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Silent	SNP	ENST00000370689.2	37	c.684A>T	CCDS691.1																																																																																				0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		12	71	0	0	0	0.001855	0	12	71				
WDR63	126820	broad.mit.edu	37	1	85547082	85547082	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:85547082T>G	ENST00000294664.6	+	4	449	c.269T>G	c.(268-270)gTc>gGc	p.V90G	WDR63_ENST00000370596.1_Missense_Mutation_p.V90G|WDR63_ENST00000326813.8_Missense_Mutation_p.V90G	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	90										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTCCACCCAGTCAAAAAAATT	0.383																																							uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(268-270)GTC>GGC		WD repeat domain 63							84.0	86.0	85.0					1																	85547082		2202	4300	6502	SO:0001583	missense	126820							g.chr1:85547082T>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.269T>G	1.37:g.85547082T>G	ENSP00000294664:p.Val90Gly					WDR63_uc009wcl.2_Missense_Mutation_p.V90G	p.V90G	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	4	460	+			90					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.269T>G	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759129	0.69763	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.84	5.84	0.93424	.	0.339680	0.30177	N	0.010223	T	0.45216	0.1331	M	0.78801	2.425	0.54753	D	0.999988	P;P	0.48089	0.905;0.846	P;P	0.47827	0.558;0.475	T	0.53301	-0.8458	10	0.62326	D	0.03	-14.4655	16.2224	0.82265	0.0:0.0:0.0:1.0	.	90;90	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	G	90;90;90;77	ENSP00000359628:V90G;ENSP00000317463:V90G;ENSP00000294664:V90G;ENSP00000435102:V77G	ENSP00000294664:V90G	V	+	2	0	WDR63	85319670	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.706000	0.68362	2.236000	0.73375	0.528000	0.53228	GTC		0.383	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		18	50	0	0	0	0.007413	0	18	50				
COL24A1	255631	broad.mit.edu	37	1	86289273	86289273	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86289273C>A	ENST00000370571.2	-	45	4102		c.e45-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGTTCGCCCTTTAGTAGAA	0.333																																							uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.e45-1		collagen, type XXIV, alpha 1 precursor							121.0	112.0	115.0					1																	86289273		1830	4093	5923	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86289273C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3736-1G>T	1.37:g.86289273C>A						COL24A1_uc001dli.2_Splice_Site_p.G382_splice|COL24A1_uc010osd.1_Splice_Site_p.G546_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	p.G1246_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	45	3778	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.3736_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266495	0.80358	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86061861	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.982000	0.63825	2.885000	0.99019	0.655000	0.94253	.		0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	6	39	1	0	4.096e-09	0.001168	6.33747e-09	6	39				
COL24A1	255631	broad.mit.edu	37	1	86453338	86453338	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86453338C>A	ENST00000370571.2	-	20	2677		c.e20-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGAAAACCCTAGGGAATAT	0.358																																							uc001dlj.2		NA																	1	Unknown(1)		kidney(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.e20-1		collagen, type XXIV, alpha 1 precursor							57.0	56.0	56.0					1																	86453338		1805	4070	5875	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86453338C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2311-1G>T	1.37:g.86453338C>A						COL24A1_uc010osd.1_Splice_Site_p.G71_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	p.G771_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	20	2353	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.2311_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842102	0.71488	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8327	0.70159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86225926	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.104000	0.57790	2.561000	0.86390	0.591000	0.81541	.		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	12	60	1	0	1.61879e-10	0.001368	2.61303e-10	12	60				
CLCA2	9635	broad.mit.edu	37	1	86898153	86898153	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86898153T>C	ENST00000370565.4	+	5	848	c.686T>C	c.(685-687)aTc>aCc	p.I229T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	229					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(685-687)ATC>ACC		chloride channel accessory 2 precursor							141.0	139.0	139.0					1																	86898153		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86898153T>C		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.686T>C	1.37:g.86898153T>C	ENSP00000359596:p.Ile229Thr						p.I229T	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	5	848	+		Lung NSC(277;0.238)	229			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.686T>C	CCDS708.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.378869	0.61735	.	.	ENSG00000137975	ENST00000370565	T	0.14144	2.53	5.26	5.26	0.73747	Chloride channel calcium-activated (1);	0.446546	0.22223	N	0.062932	T	0.11537	0.0281	M	0.80332	2.49	0.21652	N	0.999608	P	0.40578	0.722	B	0.39617	0.305	T	0.05920	-1.0856	10	0.46703	T	0.11	-1.0041	14.8404	0.70220	0.0:0.0:0.0:1.0	.	229	Q9UQC9	CLCA2_HUMAN	T	229	ENSP00000359596:I229T	ENSP00000359596:I229T	I	+	2	0	CLCA2	86670741	0.993000	0.37304	0.062000	0.19696	0.700000	0.40528	5.011000	0.64011	1.983000	0.57843	0.533000	0.62120	ATC		0.378	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		28	82	0	0	0	0.008361	0	28	82				
GBP6	163351	broad.mit.edu	37	1	89848344	89848344	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:89848344G>T	ENST00000370456.4	+	8	1367	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I	GBP6_ENST00000535065.1_Missense_Mutation_p.S295I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	425					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCAGCAGGAAGTTTCTCTGTT	0.443																																							uc001dnf.2		NA																	0				ovary(2)	2						c.(1273-1275)AGT>ATT		guanylate binding protein family, member 6							91.0	94.0	93.0					1																	89848344		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89848344G>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1274G>T	1.37:g.89848344G>T	ENSP00000359485:p.Ser425Ile					GBP6_uc010ost.1_Missense_Mutation_p.S295I	p.S425I	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	8	1548	+		Lung NSC(277;0.0908)	425					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.1274G>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587247	0.28268	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02015	4.5;4.5	5.12	-5.19	0.02832	Guanylate-binding protein, C-terminal (3);	1.034020	0.07680	N	0.936942	T	0.00328	0.0010	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.47837	-0.9086	10	0.21014	T	0.42	0.0313	0.6605	0.00842	0.1903:0.2088:0.2194:0.3815	.	425	Q6ZN66	GBP6_HUMAN	I	396;425;295	ENSP00000359485:S425I;ENSP00000442530:S295I	ENSP00000359485:S425I	S	+	2	0	GBP6	89620932	0.000000	0.05858	0.001000	0.08648	0.685000	0.39939	-1.210000	0.02999	-1.042000	0.03262	-0.340000	0.08031	AGT		0.443	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		15	58	1	0	1.05317e-09	0.00245	1.65622e-09	15	58				
LRRC8C	84230	broad.mit.edu	37	1	90178811	90178811	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:90178811G>C	ENST00000370454.4	+	3	937	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	228					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATCCACTGCAGGGGCTCTGGA	0.453																																							uc001dnl.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(682-684)GGG>CGG		leucine rich repeat containing 8 family, member							59.0	63.0	62.0					1																	90178811		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178811G>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.682G>C	1.37:g.90178811G>C	ENSP00000359483:p.Gly228Arg						p.G228R	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	924	+		all_lung(203;0.126)	228					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.682G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388174	0.25118	.	.	ENSG00000171488	ENST00000370454	T	0.23147	1.92	5.94	5.94	0.96194	.	0.042249	0.85682	D	0.000000	T	0.12561	0.0305	N	0.21448	0.665	0.53688	D	0.999976	B	0.11235	0.004	B	0.08055	0.003	T	0.03493	-1.1031	10	0.49607	T	0.09	.	20.3501	0.98811	0.0:0.0:1.0:0.0	.	228	Q8TDW0	LRC8C_HUMAN	R	228	ENSP00000359483:G228R	ENSP00000359483:G228R	G	+	1	0	LRRC8C	89951399	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	6.220000	0.72237	2.807000	0.96579	0.650000	0.86243	GGG		0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		7	51	0	0	0	0.001984	0	7	51				
ARHGAP29	9411	broad.mit.edu	37	1	94670703	94670703	+	Missense_Mutation	SNP	G	G	C	rs532106482		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:94670703G>C	ENST00000260526.6	-	7	793	c.611C>G	c.(610-612)tCt>tGt	p.S204C	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S204C	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	204					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAGCTCGATAGAGTCAGTGTT	0.338																																							uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(610-612)TCT>TGT		PTPL1-associated RhoGAP 1							78.0	75.0	76.0					1																	94670703		2202	4300	6502	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94670703G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.611C>G	1.37:g.94670703G>C	ENSP00000260526:p.Ser204Cys					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.S204C	p.S204C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	7	980	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	204					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.611C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718688	0.68844	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.46063	0.88;0.88	5.87	3.83	0.44106	.	0.205935	0.24620	N	0.036980	T	0.34745	0.0908	N	0.14661	0.345	0.38843	D	0.956107	B;D	0.71674	0.023;0.998	B;D	0.65987	0.01;0.94	T	0.48410	-0.9038	10	0.87932	D	0	-14.6608	14.955	0.71107	0.0:0.5363:0.4637:0.0	.	204;204	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	C	204	ENSP00000260526:S204C;ENSP00000359237:S204C	ENSP00000260526:S204C	S	-	2	0	ARHGAP29	94443291	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.651000	0.61447	1.603000	0.50134	0.655000	0.94253	TCT		0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		4	28	0	0	0	0.000248	0	4	28				
COL11A1	1301	broad.mit.edu	37	1	103444295	103444295	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:103444295C>A	ENST00000370096.3	-	35	3035	c.2723G>T	c.(2722-2724)gGc>gTc	p.G908V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G869V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G792V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G920V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	908	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)		AGGGCCATCGCCACCTGAAGT	0.388																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2722-2724)GGC>GTC		alpha 1 type XI collagen isoform A							95.0	111.0	106.0					1																	103444295		2197	4300	6497	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.chr1:103444295C>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.2723G>T	1.37:g.103444295C>A	ENSP00000359114:p.Gly908Val					COL11A1_uc001duk.2_Missense_Mutation_p.G104V|COL11A1_uc001dum.2_Missense_Mutation_p.G920V|COL11A1_uc001dun.2_Missense_Mutation_p.G869V|COL11A1_uc009weh.2_Missense_Mutation_p.G792V	p.G908V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	35	3041	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	908			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2723G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689790	0.29962	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93366	-3.2;-3.2;-3.2;-3.21	5.35	5.35	0.76521	.	0.330906	0.31963	N	0.006793	T	0.67297	0.2878	N	0.01242	-0.935	0.58432	D	0.999997	B;B;P;B;B	0.36909	0.023;0.13;0.573;0.079;0.13	B;B;B;B;B	0.35312	0.021;0.046;0.2;0.021;0.046	T	0.73418	-0.3989	10	0.24483	T	0.36	.	6.9724	0.24656	0.0:0.7876:0.0:0.2124	.	792;869;920;908;128	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	908;920;869;128;792	ENSP00000359114:G908V;ENSP00000351163:G920V;ENSP00000302551:G869V;ENSP00000426533:G792V	ENSP00000302551:G869V	G	-	2	0	COL11A1	103216883	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	1.251000	0.32862	2.506000	0.84524	0.655000	0.94253	GGC		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		22	171	1	0	5.26018e-13	0.001882	9.08023e-13	22	171				
STRIP1	85369	broad.mit.edu	37	1	110584481	110584481	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:110584481T>A	ENST00000369795.3	+	8	905	c.883T>A	c.(883-885)Ttg>Atg	p.L295M	STRIP1_ENST00000369796.1_Missense_Mutation_p.L200M	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	295					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAAGACAGTATTGGTGAGCAC	0.463																																							uc001dza.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(883-885)TTG>ATG		hypothetical protein LOC85369							177.0	168.0	171.0					1																	110584481		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110584481T>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.883T>A	1.37:g.110584481T>A	ENSP00000358810:p.Leu295Met					FAM40A_uc001dyz.1_Missense_Mutation_p.L200M|FAM40A_uc009wfp.1_Missense_Mutation_p.L119M	p.L295M	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	8	902	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	295					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.883T>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136426	0.56936	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.63580	-0.05;-0.0	5.9	-0.144	0.13440	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.58302	1.8	0.80722	D	1	P;P	0.46656	0.69;0.882	B;P	0.47346	0.316;0.544	T	0.48736	-0.9009	10	0.46703	T	0.11	-15.402	10.3444	0.43897	0.0:0.4947:0.0:0.5053	.	200;295	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	M	200;295	ENSP00000358811:L200M;ENSP00000358810:L295M	ENSP00000358810:L295M	L	+	1	2	FAM40A	110386004	0.604000	0.26932	0.277000	0.24703	0.989000	0.77384	1.095000	0.30964	-0.052000	0.13311	0.528000	0.53228	TTG		0.463	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		15	99	0	0	0	0.004007	0	15	99				
SPAG17	200162	broad.mit.edu	37	1	118596629	118596629	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:118596629A>T	ENST00000336338.5	-	20	2875	c.2810T>A	c.(2809-2811)cTc>cAc	p.L937H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		gaTTACCTTGAGAGAGCCTTC	0.353																																							uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2809-2811)CTC>CAC		sperm associated antigen 17							57.0	59.0	58.0					1																	118596629		2200	4297	6497	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118596629A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2810T>A	1.37:g.118596629A>T	ENSP00000337804:p.Leu937His						p.L937H	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	20	2878	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	937					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2810T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134317	0.77662	.	.	ENSG00000155761	ENST00000336338	T	0.49139	0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.68952	2.095	0.33234	D	0.556326	D	0.89917	1.0	D	0.91635	0.999	T	0.64922	-0.6293	10	0.72032	D	0.01	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	937	Q6Q759	SPG17_HUMAN	H	937	ENSP00000337804:L937H	ENSP00000337804:L937H	L	-	2	0	SPAG17	118398152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.371000	0.80710	0.533000	0.62120	CTC		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	27	0	0	0	0.000602	0	5	27				
HSD3B2	3284	broad.mit.edu	37	1	119965095	119965095	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:119965095G>A	ENST00000543831.1	+	4	1220	c.971G>A	c.(970-972)aGt>aAt	p.S324N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S324N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	324					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TTATCAAATAGTGTGTTCACC	0.498																																							uc001ehs.2		NA																	0				ovary(2)	2						c.(970-972)AGT>AAT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						90.0	88.0	89.0					1																	119965095		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965095G>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.971G>A	1.37:g.119965095G>A	ENSP00000445122:p.Ser324Asn					HSD3B2_uc001eht.2_Missense_Mutation_p.S324N|HSD3B2_uc001ehu.2_Intron	p.S324N	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1744	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	324					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.971G>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	9.880	1.201239	0.22121	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	T;T	0.71341	-0.56;-0.56	4.1	3.09	0.35607	.	0.045472	0.85682	D	0.000000	T	0.57036	0.2026	M	0.77820	2.39	0.39424	D	0.966973	B	0.28439	0.212	B	0.30401	0.115	T	0.61695	-0.7010	9	.	.	.	-1.1375	10.6946	0.45892	0.0:0.4206:0.5794:0.0	.	324	P26439	3BHS2_HUMAN	N	324	ENSP00000445122:S324N;ENSP00000358424:S324N	.	S	+	2	0	HSD3B2	119766618	1.000000	0.71417	0.014000	0.15608	0.022000	0.10575	6.200000	0.72118	1.869000	0.54173	0.298000	0.19748	AGT		0.498	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		11	78	0	0	0	0.000978	0	11	78				
ADAM30	11085	broad.mit.edu	37	1	120438236	120438236	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:120438236G>T	ENST00000369400.1	-	1	882	c.724C>A	c.(724-726)Caa>Aaa	p.Q242K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CGAACATCTTGAAAGTAGGTG	0.378																																							uc001eij.2		NA																	0				ovary(2)|lung(1)	3						c.(724-726)CAA>AAA		ADAM metallopeptidase domain 30 preproprotein							100.0	102.0	102.0					1																	120438236		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438236G>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.724C>A	1.37:g.120438236G>T	ENSP00000358407:p.Gln242Lys						p.Q242K	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	878	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	242			Peptidase M12B.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.724C>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922113	0.33908	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.61627	0.09	4.67	2.67	0.31697	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.369841	0.19703	N	0.107997	T	0.18964	0.0455	N	0.25245	0.725	0.09310	N	1	B	0.15141	0.012	B	0.20577	0.03	T	0.20806	-1.0264	10	0.14656	T	0.56	.	9.8752	0.41200	0.0:0.0:0.6324:0.3676	.	242	Q9UKF2	ADA30_HUMAN	K	242	ENSP00000358407:Q242K	ENSP00000358407:Q242K	Q	-	1	0	ADAM30	120239759	0.003000	0.15002	0.033000	0.17914	0.614000	0.37383	0.567000	0.23608	1.166000	0.42689	0.563000	0.77884	CAA		0.378	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		22	51	1	0	3.5997e-14	0.002299	6.3947e-14	22	51				
PDE4DIP	9659	broad.mit.edu	37	1	144866652	144866652	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:144866652T>C	ENST00000369354.3	-	34	5779	c.5590A>G	c.(5590-5592)Atc>Gtc	p.I1864V	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I1949V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I2000V|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I1864V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1758V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1864					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGTCATTGATGCAGATGGAT	0.577			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5590-5592)ATC>GTC		phosphodiesterase 4D interacting protein isoform							189.0	194.0	192.0					1																	144866652		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144866652T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5590A>G	1.37:g.144866652T>C	ENSP00000358360:p.Ile1864Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1758V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I871V|PDE4DIP_uc001ema.2_Missense_Mutation_p.I51V	p.I1864V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5881	-			1864			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5590A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	2.423	-0.332741	0.05314	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01548	4.78;4.89;4.89;4.88;4.89	5.13	2.37	0.29283	.	.	.	.	.	T	0.00608	0.0020	L	0.39397	1.21	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.46803	-0.9165	9	0.18276	T	0.48	.	7.1168	0.25421	0.0:0.2377:0.0:0.7623	.	1758;1864	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1758;1864;1864;1949;2000	ENSP00000327209:I1758V;ENSP00000358360:I1864V;ENSP00000358363:I1864V;ENSP00000435654:I1949V;ENSP00000358366:I2000V	ENSP00000327209:I1758V	I	-	1	0	PDE4DIP	143578009	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	4.212000	0.58514	0.281000	0.22233	-0.263000	0.10527	ATC		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		38	254	0	0	0	0.005524	0	38	254				
CHD1L	9557	broad.mit.edu	37	1	146759402	146759402	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:146759402G>T	ENST00000369258.4	+	19	2330	c.2310G>T	c.(2308-2310)ggG>ggT	p.G770G	CHD1L_ENST00000361293.5_Silent_p.G489G|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Silent_p.G676G|CHD1L_ENST00000369259.3_Silent_p.G566G	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	770	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGCTGGCTGGGAAAATGAAAG	0.458																																							uc001epm.3		NA																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(2308-2310)GGG>GGT		chromodomain helicase DNA binding protein							60.0	61.0	61.0					1																	146759402		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146759402G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2310G>T	1.37:g.146759402G>T						uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.G657G|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.G676G|CHD1L_uc010ozp.1_Silent_p.G489G|CHD1L_uc001epo.3_Silent_p.G566G|CHD1L_uc009wji.2_Silent_p.G489G	p.G770G	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			19	2373	+	all_hematologic(923;0.0487)		770			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2310G>T	CCDS927.1																																																																																				0.458	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		12	84	1	0	1.61879e-10	0.001368	2.61303e-10	12	84				
SV2A	9900	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547																																							uc001etg.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(6)|pancreas(1)	7						c.(70-72)AAG>AAA		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						111.0	100.0	104.0					1																	149885321		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885321C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.72G>A	1.37:g.149885321C>T						SV2A_uc001eth.2_Silent_p.K24K	p.K24K	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	563	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		24			Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.72G>A	CCDS940.1																																																																																				0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			20	110	0	0	0	0.001882	0	20	110				
TCHHL1	126637	broad.mit.edu	37	1	152058087	152058087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152058087C>A	ENST00000368806.1	-	3	2135	c.2071G>T	c.(2071-2073)Gga>Tga	p.G691*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	691							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCCCTTTCCAGGGAGCTGC	0.458																																							uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(2071-2073)GGA>TGA		trichohyalin-like 1							164.0	168.0	167.0					1																	152058087		2203	4300	6503	SO:0001587	stop_gained	126637						calcium ion binding	g.chr1:152058087C>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2071G>T	1.37:g.152058087C>A	ENSP00000357796:p.Gly691*						p.G691*	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2136	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		691					B2RPK8|Q5VTJ9	Nonsense_Mutation	SNP	ENST00000368806.1	37	c.2071G>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.734966	0.89482	.	.	ENSG00000182898	ENST00000368806	.	.	.	4.61	0.601	0.17529	.	1.439730	0.05048	N	0.477565	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	2.5133	6.9386	0.24481	0.0:0.6009:0.0:0.3991	.	.	.	.	X	691	.	ENSP00000357796:G691X	G	-	1	0	TCHHL1	150324711	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.221000	0.09202	-0.171000	0.10797	0.655000	0.94253	GGA		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		33	171	1	0	2.80507e-11	0.002445	4.64514e-11	33	171				
HRNR	388697	broad.mit.edu	37	1	152188335	152188335	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152188335C>A	ENST00000368801.2	-	3	5845	c.5770G>T	c.(5770-5772)Ggt>Tgt	p.G1924C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1924					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCATAGCTGGAA	0.582																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5770-5772)GGT>TGT		hornerin							444.0	656.0	585.0					1																	152188335		2168	4297	6465	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188335C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5770G>T	1.37:g.152188335C>A	ENSP00000357791:p.Gly1924Cys						p.G1924C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5846	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1924			21.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5770G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	6.687	0.495397	0.12762	.	.	ENSG00000197915	ENST00000368801	T	0.04809	3.55	4.22	2.3	0.28687	.	.	.	.	.	T	0.05318	0.0141	L	0.47190	1.495	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.32322	-0.9911	9	0.49607	T	0.09	.	5.73	0.18034	0.0:0.6915:0.1991:0.1094	.	1924	Q86YZ3	HORN_HUMAN	C	1924	ENSP00000357791:G1924C	ENSP00000357791:G1924C	G	-	1	0	HRNR	150454959	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.015000	0.12634	0.529000	0.28599	0.558000	0.71614	GGT		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		35	828	1	0	4.74835e-14	0.002096	8.39084e-14	35	828				
HRNR	388697	broad.mit.edu	37	1	152192096	152192096	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152192096C>T	ENST00000368801.2	-	3	2084	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	670					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGAGTGCCCAAAATCGGA	0.592																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2008-2010)GGG>GAG		hornerin							130.0	142.0	138.0					1																	152192096		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192096C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2009G>A	1.37:g.152192096C>T	ENSP00000357791:p.Gly670Glu						p.G670E	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2085	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		670			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2009G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.380	0.255312	0.10185	.	.	ENSG00000197915	ENST00000368801	T	0.05081	3.5	3.22	2.22	0.28083	.	.	.	.	.	T	0.00845	0.0028	L	0.28115	0.83	0.09310	N	1	B	0.33528	0.416	B	0.25759	0.063	T	0.44406	-0.9330	9	0.05351	T	0.99	.	5.4373	0.16488	0.0:0.8179:0.0:0.1821	.	670	Q86YZ3	HORN_HUMAN	E	670	ENSP00000357791:G670E	ENSP00000357791:G670E	G	-	2	0	HRNR	150458720	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.735000	0.26115	0.468000	0.27243	-0.478000	0.04885	GGG		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		76	149	0	0	0	0.00361	0	76	149				
LCE1D	353134	broad.mit.edu	37	1	152770363	152770363	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152770363T>G	ENST00000326233.6	+	2	136	c.93T>G	c.(91-93)ccT>ccG	p.P31P		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	31	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTCCCCCTAAGTGCCCTC	0.657																																							uc009wnp.2		NA																	0					0						c.(91-93)CCT>CCG		late cornified envelope 1D							44.0	44.0	44.0					1																	152770363		2109	3909	6018	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770363T>G		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.93T>G	1.37:g.152770363T>G							p.P31P	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	136	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		31			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.93T>G	CCDS1025.1																																																																																				0.657	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		39	28	0	0	0	0.005524	0	39	28				
TPM3	7170	broad.mit.edu	37	1	154163707	154163707	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:154163707C>T	ENST00000368530.2	-	2	390	c.198G>A	c.(196-198)aaG>aaA	p.K66K	TPM3_ENST00000271850.7_Silent_p.K66K|MIR190B_ENST00000401119.1_RNA	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	66					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTGGGCATCCTTCAAAGCTT	0.478			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																		uc001fec.1		NA		Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL	TPM3/ALK(33)	0				haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34						c.(196-198)AAG>AAA		tropomyosin 3 isoform 1							140.0	144.0	143.0					1																	154163707		2190	4289	6479	SO:0001819	synonymous_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154163707C>T	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.198G>A	1.37:g.154163707C>T							p.K66K	NM_152263	NP_689476	P06753	TPM3_HUMAN			2	313	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		65			By similarity.		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	c.198G>A	CCDS41403.1																																																																																				0.478	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		6	105	0	0	0	0.001168	0	6	105				
EFNA1	1942	broad.mit.edu	37	1	155104004	155104004	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:155104004G>T	ENST00000368407.3	+	2	800	c.282G>T	c.(280-282)cgG>cgT	p.R94R	EFNA1_ENST00000368406.2_Silent_p.R94R|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	94	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTGCAACCGGCCCAGTGCCA	0.577																																							uc001fhh.2		NA																	0					0						c.(280-282)CGG>CGT		ephrin A1 isoform a precursor							50.0	44.0	46.0					1																	155104004		2203	4300	6503	SO:0001819	synonymous_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155104004G>T		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.282G>T	1.37:g.155104004G>T						EFNA1_uc001fhi.2_Silent_p.R94R|EFNA1_uc009wpd.1_5'Flank	p.R94R	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	387	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		94					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	ENST00000368407.3	37	c.282G>T	CCDS1091.1																																																																																				0.577	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		10	14	1	0	2.17888e-05	0.006214	2.81911e-05	10	14				
VHLL	391104	broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	C	A	rs537361828		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:156268966C>A	ENST00000339922.3	-	1	462	c.15G>T	c.(13-15)gcG>gcT	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597																																							uc001fok.2		NA																	0				ovary(1)	1						c.(13-15)GCG>GCT		von Hippel-Lindau tumor suppressor-like							40.0	45.0	43.0					1																	156268966		2202	4298	6500	SO:0001819	synonymous_variant	391104				protein ubiquitination	nucleus		g.chr1:156268966C>A			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.15G>T	1.37:g.156268966C>A							p.A5A	NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN			1	463	-	Hepatocellular(266;0.158)		5					A1L4M4	Silent	SNP	ENST00000339922.3	37	c.15G>T																																																																																					0.597	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		25	74	1	0	7.76418e-22	0.005443	1.5134e-21	25	74				
FCRL1	115350	broad.mit.edu	37	1	157773730	157773730	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:157773730G>A	ENST00000368176.3	-	3	291	c.224C>T	c.(223-225)gCc>gTc	p.A75V	FCRL1_ENST00000358292.3_Missense_Mutation_p.A75V|FCRL1_ENST00000491942.1_Missense_Mutation_p.A75V|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	75	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCACATGGCAGCGATCTG	0.547																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(223-225)GCC>GTC		Fc receptor-like 1 isoform 1 precursor							100.0	96.0	97.0					1																	157773730		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773730G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.224C>T	1.37:g.157773730G>A	ENSP00000357158:p.Ala75Val					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.A75V|FCRL1_uc001fri.2_Missense_Mutation_p.A75V|FCRL1_uc001frj.2_RNA	p.A75V	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	337	-	all_hematologic(112;0.0378)		75			Extracellular (Potential).|Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.224C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511550	0.27036	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.12984	2.63;2.63;2.63	4.55	-2.16	0.07080	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.763420	0.00397	N	0.000058	T	0.02888	0.0086	L	0.33293	1	0.09310	N	1	B;B;B	0.14012	0.009;0.005;0.001	B;B;B	0.18263	0.021;0.008;0.003	T	0.37454	-0.9705	10	0.29301	T	0.29	.	4.6332	0.12511	0.2332:0.0:0.4055:0.3613	.	75;75;75	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	V	75	ENSP00000351039:A75V;ENSP00000357158:A75V;ENSP00000418130:A75V	ENSP00000351039:A75V	A	-	2	0	FCRL1	156040354	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.411000	0.07142	-0.857000	0.04115	-0.808000	0.03180	GCC		0.547	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		32	91	0	0	0	0.001786	0	32	91				
CD1A	909	broad.mit.edu	37	1	158226655	158226655	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158226655C>G	ENST00000289429.5	+	4	1217	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	228	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTCAGGATTCTACCCAAAGC	0.597																																							uc001frt.2		NA																	0				pancreas(2)|skin(1)	3						c.(682-684)TTC>TTG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						86.0	82.0	84.0					1																	158226655		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226655C>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.684C>G	1.37:g.158226655C>G	ENSP00000289429:p.Phe228Leu						p.F228L	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1217	+	all_hematologic(112;0.0378)		228			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.684C>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193259	0.78902	.	.	ENSG00000158477	ENST00000289429	T	0.08634	3.07	3.84	3.84	0.44239	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.44285	D	0.000464	T	0.32164	0.0820	H	0.98068	4.14	0.34591	D	0.715522	D	0.67145	0.996	D	0.68621	0.959	T	0.55560	-0.8122	10	0.87932	D	0	-39.8685	11.4527	0.50162	0.0:1.0:0.0:0.0	.	228	P06126	CD1A_HUMAN	L	228	ENSP00000289429:F228L	ENSP00000289429:F228L	F	+	3	2	CD1A	156493279	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	1.008000	0.29872	2.138000	0.66242	0.491000	0.48974	TTC		0.597	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		3	103	0	0	0	0.004672	0	3	103				
OR10T2	128360	broad.mit.edu	37	1	158368842	158368842	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158368842T>G	ENST00000334438.1	-	1	414	c.415A>C	c.(415-417)Aaa>Caa	p.K139Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	139						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(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCAGCCTTTTGTTTATGATG	0.478																																							uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(415-417)AAA>CAA		olfactory receptor, family 10, subfamily T,							104.0	103.0	104.0					1																	158368842		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368842T>G	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.415A>C	1.37:g.158368842T>G	ENSP00000334115:p.Lys139Gln						p.K139Q	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	415	-	all_hematologic(112;0.0378)		139			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.415A>C	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	T	0.790	-0.759110	0.03019	.	.	ENSG00000186306	ENST00000334438	T	0.38240	1.15	4.57	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000474	T	0.09291	0.0229	L	0.31207	0.915	0.09310	N	0.999999	B	0.20780	0.048	B	0.20184	0.028	T	0.30822	-0.9965	10	0.16420	T	0.52	.	10.071	0.42332	0.0:0.0:0.3215:0.6785	.	139	Q8NGX3	O10T2_HUMAN	Q	139	ENSP00000334115:K139Q	ENSP00000334115:K139Q	K	-	1	0	OR10T2	156635466	0.000000	0.05858	0.128000	0.21923	0.310000	0.27922	0.273000	0.18662	0.766000	0.33244	0.533000	0.62120	AAA		0.478	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		9	80	0	0	0	0.008291	0	9	80				
OR6Y1	391112	broad.mit.edu	37	1	158516985	158516985	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158516985G>T	ENST00000302617.3	-	1	910	c.911C>A	c.(910-912)gCa>gAa	p.A304E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTGAGGGCTGCCTTTACTTC	0.438																																							uc010pil.1		NA																	0				ovary(1)	1						c.(910-912)GCA>GAA		olfactory receptor, family 6, subfamily Y,							137.0	126.0	130.0					1																	158516985		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158516985G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.911C>A	1.37:g.158516985G>T	ENSP00000304807:p.Ala304Glu						p.A304E	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	911	-	all_hematologic(112;0.0378)		304			Cytoplasmic (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.911C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967543	0.02232	.	.	ENSG00000197532	ENST00000302617	T	0.36340	1.26	5.34	-0.327	0.12694	.	0.593009	0.13976	N	0.349827	T	0.03564	0.0102	N	0.13198	0.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.02654	T	1	.	2.0125	0.03491	0.1605:0.1182:0.3606:0.3607	.	304	Q8NGX8	OR6Y1_HUMAN	E	304	ENSP00000304807:A304E	ENSP00000304807:A304E	A	-	2	0	OR6Y1	156783609	0.000000	0.05858	0.055000	0.19348	0.938000	0.57974	-1.968000	0.01507	0.063000	0.16370	0.655000	0.94253	GCA		0.438	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		25	80	1	0	2.21704e-12	0.00278	3.74055e-12	25	80				
SPTA1	6708	broad.mit.edu	37	1	158587833	158587833	+	Missense_Mutation	SNP	C	C	A	rs187749998		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158587833C>A	ENST00000368147.4	-	46	6724	c.6544G>T	c.(6544-6546)Gat>Tat	p.D2182Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2182					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)					ACTGACCCATCCAGAAAGTAA	0.348																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6544-6546)GAT>TAT		spectrin, alpha, erythrocytic 1							81.0	79.0	80.0					1																	158587833		1824	4088	5912	SO:0001583	missense	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.chr1:158587833C>A	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.6544G>T	1.37:g.158587833C>A	ENSP00000357129:p.Asp2182Tyr						p.D2182Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			46	6743	-	all_hematologic(112;0.0378)		2182			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6544G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142428	0.94560	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	6.17	6.17	0.99709	.	0.000000	0.33253	N	0.005110	T	0.58637	0.2136	M	0.64997	1.995	0.58432	D	0.999997	D	0.54047	0.964	P	0.58331	0.837	T	0.58578	-0.7612	10	0.87932	D	0	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	2182	P02549	SPTA1_HUMAN	Y	2182;2179	ENSP00000357130:D2182Y;ENSP00000357129:D2179Y	ENSP00000357129:D2179Y	D	-	1	0	SPTA1	156854457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.941000	0.99782	0.655000	0.94253	GAT		0.348	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	73	1	0	4.7796e-09	0.004656	7.3444e-09	21	73				
OR6K3	391114	broad.mit.edu	37	1	158687493	158687493	+	Missense_Mutation	SNP	G	G	T	rs555343498	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158687493G>T	ENST00000368146.1	-	1	460	c.461C>A	c.(460-462)cCc>cAc	p.P154H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P138H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	154						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)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACAGAGCCGGGGGGTCATGAT	0.522																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(460-462)CCC>CAC		olfactory receptor, family 6, subfamily K,							89.0	96.0	94.0					1																	158687493		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687493G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.461C>A	1.37:g.158687493G>T	ENSP00000357128:p.Pro154His						p.P154H	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	461	-	all_hematologic(112;0.0378)		154			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.461C>A		.	.	.	.	.	.	.	.	.	.	G	3.450	-0.112197	0.06881	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01406	4.93;4.93	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00754	0.0025	L	0.52905	1.665	0.09310	N	1	B	0.31227	0.314	B	0.33196	0.159	T	0.49072	-0.8977	9	0.34782	T	0.22	.	5.8932	0.18925	0.1055:0.1985:0.696:0.0	.	154	Q8NGY3	OR6K3_HUMAN	H	138;154	ENSP00000357127:P138H;ENSP00000357128:P154H	ENSP00000357127:P138H	P	-	2	0	OR6K3	156954117	.	.	0.175000	0.22980	0.288000	0.27193	.	.	2.226000	0.72624	0.411000	0.27672	CCC		0.522	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				43	77	1	0	3.54909e-21	0.002852	6.87796e-21	43	77				
ATP1A4	480	broad.mit.edu	37	1	160141191	160141191	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:160141191G>T	ENST00000368081.4	+	11	2113	c.1642G>T	c.(1642-1644)Gcc>Tcc	p.A548S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	548					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCCAAAATGCCTACTTAGA	0.463																																							uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(1642-1644)GCC>TCC		Na+/K+ -ATPase alpha 4 subunit isoform 1							81.0	79.0	80.0					1																	160141191		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141191G>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1642G>T	1.37:g.160141191G>T	ENSP00000357060:p.Ala548Ser					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.A51S	p.A548S	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	2121	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		548			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1642G>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244058	0.59103	.	.	ENSG00000132681	ENST00000368081	T	0.75154	-0.91	4.43	4.43	0.53597	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.62209	1.925	0.80722	D	1	P	0.39060	0.657	P	0.56216	0.794	T	0.81632	-0.0845	10	0.87932	D	0	.	14.9387	0.70978	0.0:0.0:1.0:0.0	.	548	Q13733	AT1A4_HUMAN	S	548	ENSP00000357060:A548S	ENSP00000357060:A548S	A	+	1	0	ATP1A4	158407815	1.000000	0.71417	0.911000	0.35937	0.014000	0.08584	6.594000	0.74104	2.458000	0.83093	0.655000	0.94253	GCC		0.463	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		27	44	1	0	1.42536e-11	0.004656	2.38091e-11	27	44				
COPA	1314	broad.mit.edu	37	1	160265889	160265889	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:160265889C>G	ENST00000241704.7	-	22	2543	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	COPA_ENST00000368069.3_Missense_Mutation_p.E781Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	772					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTAGGCTCTCAGCTTCTTCA	0.408																																							uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(2314-2316)GAG>CAG		coatomer protein complex, subunit alpha isoform							122.0	118.0	119.0					1																	160265889		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160265889C>G	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2314G>C	1.37:g.160265889C>G	ENSP00000241704:p.Glu772Gln					COPA_uc001fvv.3_Missense_Mutation_p.E781Q	p.E772Q	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		22	2708	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		772					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2314G>C	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031486	0.54790	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62498	0.06;0.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.69823	2.125	0.80722	D	1	B;B	0.33103	0.249;0.397	B;B	0.44224	0.094;0.444	T	0.59931	-0.7361	10	0.32370	T	0.25	-29.3835	17.6228	0.88086	0.0:1.0:0.0:0.0	.	772;781	P53621;P53621-2	COPA_HUMAN;.	Q	781;772	ENSP00000357048:E781Q;ENSP00000241704:E772Q	ENSP00000241704:E772Q	E	-	1	0	COPA	158532513	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.548000	0.82154	2.838000	0.97847	0.511000	0.50034	GAG		0.408	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		3	92	0	0	0	0.000602	0	3	92				
USF1	7391	broad.mit.edu	37	1	161011976	161011976	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:161011976C>A	ENST00000368021.3	-	5	410	c.206G>T	c.(205-207)gGg>gTg	p.G69V	USF1_ENST00000368020.1_Missense_Mutation_p.G69V|USF1_ENST00000435396.1_Missense_Mutation_p.G10V|USF1_ENST00000368019.1_Missense_Mutation_p.G69V	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	69					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATCCAGCTGCCCCTCAGACAC	0.547																																							uc001fxi.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(205-207)GGG>GTG		upstream stimulatory factor 1 isoform 1							75.0	67.0	70.0					1																	161011976		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161011976C>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.206G>T	1.37:g.161011976C>A	ENSP00000357000:p.Gly69Val					USF1_uc001fxj.2_Missense_Mutation_p.G10V	p.G69V	NM_007122	NP_009053	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		5	401	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		69					B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	c.206G>T	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303249	0.81136	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000531842;ENST00000534633	D;D;D;D;D	0.93712	-3.26;-3.26;-3.21;-3.27;-2.82	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	M	0.64404	1.975	0.80722	D	1	D	0.55172	0.97	P	0.56865	0.808	D	0.93725	0.7036	10	0.52906	T	0.07	-21.2961	15.6025	0.76636	0.0:1.0:0.0:0.0	.	69	P22415	USF1_HUMAN	V	69;69;10;69;69;10	ENSP00000356999:G69V;ENSP00000357000:G69V;ENSP00000390109:G10V;ENSP00000356998:G69V;ENSP00000435005:G69V	ENSP00000356998:G69V	G	-	2	0	USF1	159278600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.164000	0.64954	2.620000	0.88729	0.609000	0.83330	GGG		0.547	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		17	44	1	0	7.05477e-17	0.00499	1.30503e-16	17	44				
TOMM40L	84134	broad.mit.edu	37	1	161198044	161198044	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:161198044C>T	ENST00000367988.3	+	7	822	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	TOMM40L_ENST00000545897.1_Missense_Mutation_p.H151Y|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000367987.1_Missense_Mutation_p.H185Y|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	185					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCTAGTTTATCACCGGCGGCC	0.592											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fzd.2		NA																	0				large_intestine(1)	1						c.(553-555)CAC>TAC		translocase of outer mitochondrial membrane 40							43.0	42.0	43.0					1																	161198044		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198044C>T		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.553C>T	1.37:g.161198044C>T	ENSP00000356967:p.His185Tyr		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_uc010pkl.1_Missense_Mutation_p.H151Y|TOMM40L_uc009wue.2_Missense_Mutation_p.H67Y|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.H185Y	p.H185Y	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	782	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		185					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.553C>T	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574231	0.86542	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000367987	T;T;T	0.44482	0.92;0.92;0.92	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.62723	1.935	0.38310	D	0.943219	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.67725	0.953;0.953;0.953	T	0.55068	-0.8198	9	0.62326	D	0.03	-6.3551	17.7728	0.88497	0.0:1.0:0.0:0.0	.	151;67;185	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	Y	185;151;185	ENSP00000356967:H185Y;ENSP00000443233:H151Y;ENSP00000356966:H185Y	ENSP00000356966:H185Y	H	+	1	0	TOMM40L	159464668	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.681000	0.84073	2.788000	0.95919	0.650000	0.86243	CAC		0.592	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		11	29	0	0	0	0.001368	0	11	29				
PBX1	5087	broad.mit.edu	37	1	164769120	164769120	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:164769120A>T	ENST00000420696.2	+	4	883	c.695A>T	c.(694-696)gAt>gTt	p.D232V	PBX1_ENST00000559240.1_Missense_Mutation_p.D232V|PBX1_ENST00000367897.1_Missense_Mutation_p.D232V|PBX1_ENST00000560641.1_Missense_Mutation_p.D127V|PBX1_ENST00000401534.1_Missense_Mutation_p.D232V|PBX1_ENST00000540246.1_Missense_Mutation_p.D127V|PBX1_ENST00000540236.1_Missense_Mutation_p.D232V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	232					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGATTTCTGGATGCGCGGTGA	0.612			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																		uc001gct.2		NA		Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	0				soft_tissue(3)|lung(1)|skin(1)	5						c.(694-696)GAT>GTT		pre-B-cell leukemia homeobox 1							106.0	87.0	93.0					1																	164769120		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164769120A>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.695A>T	1.37:g.164769120A>T	ENSP00000405890:p.Asp232Val					PBX1_uc010pku.1_Missense_Mutation_p.D232V|PBX1_uc010pkv.1_Missense_Mutation_p.D149V|PBX1_uc001gcs.2_Missense_Mutation_p.D232V|PBX1_uc010pkw.1_Missense_Mutation_p.D122V	p.D232V	NM_002585	NP_002576	P40424	PBX1_HUMAN			4	953	+			232					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.695A>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856360	0.91355	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.64	5.64	0.86602	PBX (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.88241	2.94	.	.	.	P;D;D;D;D	0.71674	0.925;0.991;0.989;0.991;0.998	P;D;D;D;D	0.79784	0.892;0.993;0.94;0.993;0.993	T	0.79526	-0.1767	9	0.87932	D	0	-17.0358	15.5328	0.75977	1.0:0.0:0.0:0.0	.	127;232;232;232;232	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	V	232;232;232;232;127	ENSP00000405890:D232V;ENSP00000356872:D232V;ENSP00000439943:D232V;ENSP00000384856:D232V;ENSP00000440869:D127V	ENSP00000356872:D232V	D	+	2	0	PBX1	163035744	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	8.832000	0.92079	2.144000	0.66660	0.533000	0.62120	GAT		0.612	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		5	16	0	0	0	0.001168	0	5	16				
DUSP27	92235	broad.mit.edu	37	1	167095909	167095909	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:167095909G>T	ENST00000361200.2	+	6	1707	c.1541G>T	c.(1540-1542)aGg>aTg	p.R514M	DUSP27_ENST00000443333.1_Missense_Mutation_p.R514M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R514M|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	514					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCAGGGAGCAGGGTGCGGGAG	0.587																																							uc001geb.1		NA																	0				ovary(3)	3						c.(1540-1542)AGG>ATG		dual specificity phosphatase 27							67.0	61.0	63.0					1																	167095909		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095909G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1541G>T	1.37:g.167095909G>T	ENSP00000354483:p.Arg514Met						p.R514M	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1541	+			514					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1541G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.110	0.778572	0.16120	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03717	3.83;3.83;3.83	5.14	4.21	0.49690	.	0.454788	0.21143	N	0.079450	T	0.01905	0.0060	L	0.57536	1.79	0.09310	N	1	P	0.49447	0.924	B	0.43155	0.41	T	0.42899	-0.9424	10	0.87932	D	0	-7.9164	4.5482	0.12092	0.1958:0.2004:0.6038:0.0	.	514	Q5VZP5	DUS27_HUMAN	M	514	ENSP00000354483:R514M;ENSP00000271385:R514M;ENSP00000404874:R514M	ENSP00000271385:R514M	R	+	2	0	DUSP27	165362533	0.993000	0.37304	0.198000	0.23420	0.026000	0.11368	3.849000	0.55910	1.124000	0.41980	0.643000	0.83706	AGG		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		29	66	1	0	7.01153e-11	0.007291	1.14001e-10	29	66				
F5	2153	broad.mit.edu	37	1	169510154	169510154	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:169510154G>A	ENST00000367797.3	-	13	4375	c.4174C>T	c.(4174-4176)Ccc>Tcc	p.P1392S	F5_ENST00000367796.3_Missense_Mutation_p.P1397S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1392	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCAAAGAGGGGCATCTCACTG	0.512																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4174-4176)CCC>TCC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						126.0	138.0	134.0					1																	169510154		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510154G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4174C>T	1.37:g.169510154G>A	ENSP00000356771:p.Pro1392Ser						p.P1392S	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4319	-	all_hematologic(923;0.208)		1392			2-24.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4174C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-2.003994	0.00431	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.32753	1.44;1.44	3.72	-7.43	0.01383	.	1.938660	0.01795	N	0.032529	T	0.02193	0.0068	N	0.04018	-0.295	0.25547	N	0.987123	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	9	0.08381	T	0.77	0.1288	4.6452	0.12568	0.1561:0.1385:0.4816:0.2237	.	1392	P12259	FA5_HUMAN	S	1392;1397	ENSP00000356771:P1392S;ENSP00000356770:P1397S	ENSP00000356770:P1397S	P	-	1	0	F5	167776778	0.035000	0.19736	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-3.719000	0.00116	-1.574000	0.00870	CCC		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		43	212	0	0	0	0.007835	0	43	212				
F5	2153	broad.mit.edu	37	1	169525938	169525938	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:169525938C>A	ENST00000367797.3	-	6	1099	c.898G>T	c.(898-900)Gtg>Ttg	p.V300L	F5_ENST00000367796.3_Missense_Mutation_p.V300L|F5_ENST00000546081.1_Missense_Mutation_p.V163L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	300	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGGCCCACAGTCATATTT	0.473																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(898-900)GTG>TTG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						166.0	141.0	149.0					1																	169525938		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169525938C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.898G>T	1.37:g.169525938C>A	ENSP00000356771:p.Val300Leu					F5_uc010plr.1_RNA	p.V300L	NM_000130	NP_000121	P12259	FA5_HUMAN			6	1043	-	all_hematologic(923;0.208)		300			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.898G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	5.010	0.187608	0.09547	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99789	-6.75;-6.75;-6.75	6.07	-2.7	0.06004	Cupredoxin (2);	0.440999	0.26746	N	0.022719	D	0.96284	0.8788	L	0.31752	0.955	0.24642	N	0.993566	B	0.28760	0.221	B	0.22386	0.039	D	0.91691	0.5366	9	0.08381	T	0.77	-0.6222	12.3059	0.54902	0.0:0.4507:0.0:0.5493	.	300	P12259	FA5_HUMAN	L	300;300;163	ENSP00000356771:V300L;ENSP00000356770:V300L;ENSP00000439664:V163L	ENSP00000356770:V300L	V	-	1	0	F5	167792562	0.048000	0.20356	0.001000	0.08648	0.209000	0.24338	0.477000	0.22196	-0.858000	0.04110	-0.142000	0.14014	GTG		0.473	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		22	49	1	0	1.87028e-06	0.001882	2.58414e-06	22	49				
RABGAP1L	9910	broad.mit.edu	37	1	174200322	174200322	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:174200322C>T	ENST00000251507.4	+	4	545	c.371C>T	c.(370-372)cCt>cTt	p.P124L	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P87L	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGTGGACTACCTGAAGAAGAT	0.383																																							uc001gjx.2		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(370-372)CCT>CTT		RAB GTPase activating protein 1-like isoform A							72.0	72.0	72.0					1																	174200322		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174200322C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.371C>T	1.37:g.174200322C>T	ENSP00000251507:p.Pro124Leu					RABGAP1L_uc009wwq.1_Missense_Mutation_p.P124L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.P87L	p.P124L	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			4	566	+			124					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.371C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857021	0.51376	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.46063	0.88;3.58;0.99	5.59	5.59	0.84812	.	0.361069	0.28470	N	0.015238	T	0.36635	0.0974	L	0.47716	1.5	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.002;0.005;0.004	T	0.09997	-1.0649	10	0.25106	T	0.35	.	13.3072	0.60359	0.0:0.9181:0.0:0.0819	.	124;124;87	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	L	87;124;124;124	ENSP00000350027:P87L;ENSP00000251507:P124L;ENSP00000403136:P124L	ENSP00000251507:P124L	P	+	2	0	RABGAP1L	172466945	0.599000	0.26891	0.865000	0.33974	0.990000	0.78478	1.411000	0.34702	2.627000	0.88993	0.563000	0.77884	CCT		0.383	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		14	76	0	0	0	0.001855	0	14	76				
TNN	63923	broad.mit.edu	37	1	175067500	175067500	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:175067500C>A	ENST00000239462.4	+	9	2001	c.1888C>A	c.(1888-1890)Cgg>Agg	p.R630R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	630	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGACTGACCGGGTGACAGA	0.532																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1888-1890)CGG>AGG		tenascin N precursor							94.0	104.0	100.0					1																	175067500		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067500C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1888C>A	1.37:g.175067500C>A						TNN_uc010pmx.1_Silent_p.R541R	p.R630R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2001	+		Breast(1374;0.000962)	630			Fibronectin type-III 5.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1888C>A	CCDS30943.1																																																																																				0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		67	120	1	0	1.48005e-37	0.00361	2.97116e-37	67	120				
TNN	63923	broad.mit.edu	37	1	175097288	175097288	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:175097288A>T	ENST00000239462.4	+	14	3279	c.3166A>T	c.(3166-3168)Acc>Tcc	p.T1056S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1056	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTATCCACCACCCTCTCCAC	0.552																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3166-3168)ACC>TCC		tenascin N precursor							77.0	69.0	72.0					1																	175097288		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097288A>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3166A>T	1.37:g.175097288A>T	ENSP00000239462:p.Thr1056Ser						p.T1056S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3279	+		Breast(1374;0.000962)	1056			Fibronectin type-III 9.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3166A>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595770	0.28445	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.27104	1.69	5.78	0.684	0.18003	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.621724	0.17520	N	0.171300	T	0.12008	0.0292	N	0.25485	0.75	0.25608	N	0.986529	B	0.10296	0.003	B	0.11329	0.006	T	0.32348	-0.9910	10	0.10111	T	0.7	.	2.7071	0.05165	0.6217:0.1252:0.1333:0.1199	.	1056	Q9UQP3	TENN_HUMAN	S	1056;879	ENSP00000239462:T1056S	ENSP00000239462:T1056S	T	+	1	0	TNN	173363911	0.017000	0.18338	0.235000	0.24058	0.598000	0.36846	2.676000	0.46883	-0.121000	0.11787	0.260000	0.18958	ACC		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	36	0	0	0	0.004007	0	16	36				
BRINP2	57795	broad.mit.edu	37	1	177199149	177199149	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:177199149A>T	ENST00000361539.4	+	2	449	c.137A>T	c.(136-138)cAt>cTt	p.H46L		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	46					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CCCGAGCAGCATGCCTCCGTA	0.697																																							uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(136-138)CAT>CTT		family with sequence similarity 5, member B							29.0	33.0	31.0					1																	177199149		2202	4299	6501	SO:0001583	missense	57795					extracellular region		g.chr1:177199149A>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.137A>T	1.37:g.177199149A>T	ENSP00000354481:p.His46Leu						p.H46L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			2	449	+			46					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.137A>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540185	0.45176	.	.	ENSG00000198797	ENST00000361539	T	0.13901	2.55	5.53	4.41	0.53225	.	0.253383	0.34178	N	0.004199	T	0.12008	0.0292	L	0.50333	1.59	0.37938	D	0.932246	P	0.39480	0.675	B	0.29785	0.107	T	0.07252	-1.0782	10	0.72032	D	0.01	-13.6974	11.1198	0.48281	0.9273:0.0:0.0727:0.0	.	46	Q9C0B6	FAM5B_HUMAN	L	46	ENSP00000354481:H46L	ENSP00000354481:H46L	H	+	2	0	FAM5B	175465772	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.646000	0.54396	0.937000	0.37394	0.533000	0.62120	CAT		0.697	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		15	33	0	0	0	0.00245	0	15	33				
CACNA1E	777	broad.mit.edu	37	1	181741305	181741305	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:181741305C>T	ENST00000367573.2	+	37	5077	c.5077C>T	c.(5077-5079)Cgc>Tgc	p.R1693C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1644C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1674C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1674C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1300C|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1693C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1625C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1693					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						CGAGAACGAACGCTGCGGCAC	0.557																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5077-5079)CGC>TGC		calcium channel, voltage-dependent, R type,							198.0	199.0	198.0					1																	181741305		2190	4283	6473	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741305C>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.5077C>T	1.37:g.181741305C>T	ENSP00000356545:p.Arg1693Cys					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1581C|CACNA1E_uc001gox.1_Missense_Mutation_p.R919C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R919C	p.R1693C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			37	5242	+			1693			Extracellular (Potential).|IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5077C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151921	0.94645	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.5	5.5	0.81552	Ion transport (1);	0.098253	0.64402	D	0.000001	D	0.98194	0.9403	N	0.21240	0.645	0.80722	D	1	D;D;D	0.65815	0.995;0.979;0.994	D;P;P	0.67231	0.95;0.86;0.742	D	0.99923	1.1263	10	0.72032	D	0.01	.	19.0048	0.92846	0.0:1.0:0.0:0.0	.	1674;1693;1693	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1693;1674;1644;1625;1300;1674;1693	ENSP00000356542:R1693C;ENSP00000434814:R1674C;ENSP00000350183:R1644C;ENSP00000351101:R1625C;ENSP00000356539:R1300C;ENSP00000353222:R1674C;ENSP00000356545:R1693C	ENSP00000350183:R1644C	R	+	1	0	CACNA1E	180007928	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.216000	0.65246	2.588000	0.87417	0.643000	0.83706	CGC		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		25	96	0	0	0	0.00333	0	25	96				
CACNA1E	777	broad.mit.edu	37	1	181741320	181741320	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:181741320C>A	ENST00000367573.2	+	37	5092	c.5092C>A	c.(5092-5094)Ctg>Atg	p.L1698M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1649M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1679M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1679M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1305M|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1698M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1630M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1698					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						CGGCACCGATCTGGCCTACGT	0.552																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5092-5094)CTG>ATG		calcium channel, voltage-dependent, R type,							214.0	214.0	214.0					1																	181741320		2188	4278	6466	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741320C>A	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.5092C>A	1.37:g.181741320C>A	ENSP00000356545:p.Leu1698Met					CACNA1E_uc009wxs.2_Missense_Mutation_p.L1586M|CACNA1E_uc001gox.1_Missense_Mutation_p.L924M|CACNA1E_uc009wxt.2_Missense_Mutation_p.L924M	p.L1698M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			37	5257	+			1698			Extracellular (Potential).|IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5092C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390833	0.82902	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.77	4.85	0.62838	Ion transport (1);	0.059127	0.64402	D	0.000001	D	0.98538	0.9512	L	0.45744	1.44	0.53688	D	0.999979	D;D;D	0.76494	0.999;0.994;0.993	D;D;P	0.77004	0.989;0.953;0.878	D	0.99823	1.1048	10	0.72032	D	0.01	.	14.2018	0.65710	0.0:0.928:0.0:0.072	.	1679;1698;1698	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1698;1679;1649;1630;1305;1679;1698	ENSP00000356542:L1698M;ENSP00000434814:L1679M;ENSP00000350183:L1649M;ENSP00000351101:L1630M;ENSP00000356539:L1305M;ENSP00000353222:L1679M;ENSP00000356545:L1698M	ENSP00000350183:L1649M	L	+	1	2	CACNA1E	180007943	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.808000	0.62583	1.445000	0.47624	0.643000	0.83706	CTG		0.552	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		17	111	1	0	5.35267e-07	0.007413	7.53525e-07	17	111				
ZNF648	127665	broad.mit.edu	37	1	182026967	182026967	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:182026967G>T	ENST00000339948.3	-	2	386	c.179C>A	c.(178-180)cCa>cAa	p.P60Q		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	60					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTGTGTTACTGGGGAGCTGCC	0.567																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	0				ovary(1)	1						c.(178-180)CCA>CAA		zinc finger protein 648							83.0	86.0	85.0					1																	182026967		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026967G>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.179C>A	1.37:g.182026967G>T	ENSP00000344129:p.Pro60Gln						p.P60Q	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	387	-			60					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.179C>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.923844	0.02377	.	.	ENSG00000179930	ENST00000339948	T	0.05855	3.38	3.42	-0.304	0.12788	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46735	-0.9170	9	0.05436	T	0.98	.	5.2382	0.15458	0.1237:0.0:0.4477:0.4286	.	60	Q5T619	ZN648_HUMAN	Q	60	ENSP00000344129:P60Q	ENSP00000344129:P60Q	P	-	2	0	ZNF648	180293590	0.000000	0.05858	0.045000	0.18777	0.053000	0.15095	-1.256000	0.02869	0.160000	0.19432	-0.152000	0.13540	CCA		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		23	49	1	0	1.10513e-12	0.002299	1.89069e-12	23	49				
HMCN1	83872	broad.mit.edu	37	1	185939528	185939528	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:185939528G>A	ENST00000271588.4	+	15	2503	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.K758K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	758	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACTTTTGAAGATTCAAGAAA	0.428																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(2272-2274)AAG>AAA		hemicentin 1 precursor							153.0	162.0	159.0					1																	185939528		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939528G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2274G>A	1.37:g.185939528G>A						HMCN1_uc001grr.1_Silent_p.K99K	p.K758K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			15	2503	+			758			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.2274G>A	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		56	163	0	0	0	0.00361	0	56	163				
HMCN1	83872	broad.mit.edu	37	1	186064471	186064471	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:186064471C>G	ENST00000271588.4	+	68	10620	c.10391C>G	c.(10390-10392)gCt>gGt	p.A3464G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3464G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3464	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAACCCCAGCTCCCAGTATG	0.522																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(10390-10392)GCT>GGT		hemicentin 1 precursor							72.0	68.0	70.0					1																	186064471		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186064471C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10391C>G	1.37:g.186064471C>G	ENSP00000271588:p.Ala3464Gly						p.A3464G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			68	10620	+			3464			Ig-like C2-type 33.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10391C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	6.947	0.544532	0.13312	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.2	1.06	0.20224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.939822	0.09071	N	0.852853	T	0.59018	0.2163	M	0.69523	2.12	0.09310	N	1	P	0.41131	0.739	B	0.35727	0.209	T	0.43637	-0.9379	10	0.20519	T	0.43	.	7.3929	0.26919	0.0:0.5879:0.2188:0.1933	.	3464	Q96RW7	HMCN1_HUMAN	G	3464	ENSP00000271588:A3464G;ENSP00000356462:A3464G	ENSP00000271588:A3464G	A	+	2	0	HMCN1	184331094	0.000000	0.05858	0.001000	0.08648	0.287000	0.27160	0.696000	0.25541	0.183000	0.20059	-0.258000	0.10820	GCT		0.522	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	34	0	0	0	0.007413	0	20	34				
BRINP3	339479	broad.mit.edu	37	1	190203575	190203575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:190203575G>T	ENST00000367462.3	-	5	882	c.651C>A	c.(649-651)tgC>tgA	p.C217*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.C115*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	217	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CATAGTTACTGCAGCCAAGAG	0.373																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(649-651)TGC>TGA		family with sequence similarity 5, member C							137.0	118.0	124.0					1																	190203575		2203	4300	6503	SO:0001587	stop_gained	339479					extracellular region		g.chr1:190203575G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.651C>A	1.37:g.190203575G>T	ENSP00000356432:p.Cys217*					FAM5C_uc010pot.1_Nonsense_Mutation_p.C115*	p.C217*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			5	883	-	Prostate(682;0.198)		217					B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	c.651C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	38	6.843544	0.97881	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0275	0.47753	0.0839:0.0:0.9161:0.0	.	.	.	.	X	217;115	.	ENSP00000356432:C217X	C	-	3	2	FAM5C	188470198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.342000	0.72982	2.775000	0.95449	0.650000	0.86243	TGC		0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	59	1	0	0.00010058	0.001368	0.000124382	11	59				
CFH	3075	broad.mit.edu	37	1	196711060	196711060	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368																																							uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(3010-3012)AAG>AAA		complement factor H isoform a precursor							119.0	111.0	113.0					1																	196711060		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711060G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3012G>A	1.37:g.196711060G>A							p.K1004K	NM_000186	NP_000177	P08603	CFAH_HUMAN			19	3252	+			1004			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3012G>A	CCDS1385.1																																																																																				0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		4	47	0	0	0	0.000248	0	4	47				
CFHR3	10878	broad.mit.edu	37	1	196749016	196749016	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:196749016C>A	ENST00000367425.4	+	3	435	c.343C>A	c.(343-345)Cat>Aat	p.H115N	CFHR3_ENST00000391985.3_Missense_Mutation_p.H115N|CFHR3_ENST00000471440.2_Missense_Mutation_p.H115N	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AGTTGCCTGCCATCCTGGCTA	0.428																																							uc001gtl.2		NA																	0					0						c.(343-345)CAT>AAT		complement factor H-related 3 precursor							70.0	72.0	71.0					1																	196749016		1894	4124	6018	SO:0001583	missense	10878					extracellular space		g.chr1:196749016C>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.343C>A	1.37:g.196749016C>A	ENSP00000356395:p.His115Asn					CFHR3_uc001gtk.2_Missense_Mutation_p.H115N|CFHR3_uc010poy.1_Missense_Mutation_p.H115N|CFHR1_uc001gtm.2_Intron	p.H115N	NM_021023	NP_066303	Q02985	FHR3_HUMAN			3	430	+			115			Sushi 2.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.343C>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	8.693	0.907890	0.17833	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.63417	-0.04;-0.04;-0.04	3.68	-7.37	0.01412	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.007;0.033;0.002	B;B;B	0.16289	0.015;0.009;0.004	T	0.35400	-0.9790	9	0.02654	T	1	.	0.9377	0.01348	0.245:0.3118:0.2626:0.1806	.	115;115;115	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	N	115	ENSP00000356395:H115N;ENSP00000436258:H115N;ENSP00000375845:H115N	ENSP00000356395:H115N	H	+	1	0	CFHR3	195015639	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-3.797000	0.00364	-1.259000	0.02468	-0.491000	0.04670	CAT		0.428	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		11	40	1	0	0.00829132	0.008291	0.00946874	11	40				
F13B	2165	broad.mit.edu	37	1	197025021	197025021	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:197025021T>C	ENST00000367412.1	-	8	1221	c.1178A>G	c.(1177-1179)aAt>aGt	p.N393S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	393					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAATTCTCATTATTTTCTAA	0.328																																							uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1177-1179)AAT>AGT		coagulation factor XIII B subunit precursor							45.0	44.0	44.0					1																	197025021		2202	4299	6501	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197025021T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1178A>G	1.37:g.197025021T>C	ENSP00000356382:p.Asn393Ser						p.N393S	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1222	-			393					A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1178A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	2.402	-0.337437	0.05278	.	.	ENSG00000143278	ENST00000367412	T	0.25414	1.8	5.93	-8.95	0.00765	.	1.090940	0.07287	N	0.871688	T	0.08088	0.0202	N	0.16130	0.375	0.09310	N	0.999999	B	0.13145	0.007	B	0.10450	0.005	T	0.32348	-0.9910	10	0.09338	T	0.73	.	0.3465	0.00342	0.382:0.1865:0.2031:0.2284	.	393	P05160	F13B_HUMAN	S	393	ENSP00000356382:N393S	ENSP00000356382:N393S	N	-	2	0	F13B	195291644	0.143000	0.22626	0.113000	0.21522	0.594000	0.36715	-0.814000	0.04486	-1.705000	0.01406	0.533000	0.62120	AAT		0.328	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		9	27	0	0	0	0.004482	0	9	27				
IGFN1	91156	broad.mit.edu	37	1	201196296	201196296	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:201196296G>T	ENST00000335211.4	+	23	11203	c.11073G>T	c.(11071-11073)acG>acT	p.T3691T	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1234						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGAGAACACGCTGGGCCAGG	0.637																																							uc001gwc.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2551-2553)ACG>ACT		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							40.0	25.0	30.0					1																	201196296		2202	4300	6502	SO:0001819	synonymous_variant	91156							g.chr1:201196296G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.11073G>T	1.37:g.201196296G>T						IGFN1_uc001gwb.2_RNA	p.T851T	NM_178275	NP_840059					12	3325	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.2553G>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.237060	0.05944	.	.	ENSG00000163395	ENST00000412892	.	.	.	5.19	-7.18	0.01505	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	.	10.4757	0.44663	0.6093:0.0:0.2997:0.091	.	.	.	.	S	1109	.	.	A	+	1	0	IGFN1	199462919	0.000000	0.05858	0.004000	0.12327	0.505000	0.33919	-3.578000	0.00425	-1.482000	0.01860	0.655000	0.94253	GCT		0.637	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		3	12	1	0	0.004672	0.004672	0.00538583	3	12				
ATP2B4	493	broad.mit.edu	37	1	203680134	203680134	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:203680134G>T	ENST00000357681.5	+	12	3052	c.1929G>T	c.(1927-1929)cgG>cgT	p.R643R	ATP2B4_ENST00000367218.3_Silent_p.R643R|ATP2B4_ENST00000391954.2_Silent_p.R643R|ATP2B4_ENST00000341360.2_Silent_p.R643R|ATP2B4_ENST00000367219.3_Silent_p.R631R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	643					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGCTTACCGGGACTTCGATG	0.532																																							uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(1927-1929)CGG>CGT		plasma membrane calcium ATPase 4 isoform 4b							116.0	98.0	104.0					1																	203680134		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680134G>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1929G>T	1.37:g.203680134G>T						ATP2B4_uc001gzv.2_Silent_p.R643R|ATP2B4_uc009xaq.2_Silent_p.R643R	p.R643R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	2813	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		643			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.1929G>T	CCDS1440.1																																																																																				0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		6	40	1	0	1.6384e-10	0.001984	2.6415e-10	6	40				
PIK3C2B	5287	broad.mit.edu	37	1	204438211	204438211	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204438211C>G	ENST00000367187.3	-	3	1276	c.720G>C	c.(718-720)ttG>ttC	p.L240F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L240F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	240	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGTCGATTTCAAGTTGAGCC	0.567																																							uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(718-720)TTG>TTC		phosphoinositide-3-kinase, class 2 beta							207.0	233.0	224.0					1																	204438211		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438211C>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.720G>C	1.37:g.204438211C>G	ENSP00000356155:p.Leu240Phe					PIK3C2B_uc010pqv.1_Missense_Mutation_p.L240F|PIK3C2B_uc001hax.1_Missense_Mutation_p.L240F|PIK3C2B_uc009xbd.1_RNA	p.L240F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1199	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		240			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.720G>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805462	0.31961	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64618	0.01;-0.11	5.35	2.29	0.28610	.	0.103675	0.36444	N	0.002598	T	0.67896	0.2942	L	0.27053	0.805	0.33319	D	0.56708	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75434	-0.3319	10	0.48119	T	0.1	.	16.4127	0.83723	0.0:0.3831:0.6169:0.0	.	240;240	F5GWN5;O00750	.;P3C2B_HUMAN	F	240	ENSP00000356155:L240F;ENSP00000400561:L240F	ENSP00000356155:L240F	L	-	3	2	PIK3C2B	202704834	0.524000	0.26282	0.973000	0.42090	0.164000	0.22412	-0.550000	0.06034	0.184000	0.20083	0.462000	0.41574	TTG		0.567	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		31	262	0	0	0	0.002445	0	31	262				
LRRN2	10446	broad.mit.edu	37	1	204589036	204589036	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204589036A>T	ENST00000367175.1	-	1	2297	c.85T>A	c.(85-87)Tgc>Agc	p.C29S	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Missense_Mutation_p.C29S|LRRN2_ENST00000367177.3_Missense_Mutation_p.C29S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	29	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGAGGGGGGCAGGGAACATGC	0.652																																							uc001hbe.1		NA																	0				central_nervous_system(2)	2						c.(85-87)TGC>AGC		leucine rich repeat neuronal 2 precursor							24.0	27.0	26.0					1																	204589036		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589036A>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.85T>A	1.37:g.204589036A>T	ENSP00000356143:p.Cys29Ser					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.C29S|LRRN2_uc009xbf.1_Missense_Mutation_p.C29S|MDM4_uc001hbc.2_Intron	p.C29S	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	473	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		29			Extracellular (Potential).|LRRNT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.85T>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714677	0.48622	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.25414	1.8;1.8;1.8	5.53	5.53	0.82687	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.46758	D	0.000268	T	0.50599	0.1625	M	0.81802	2.56	0.49798	D	0.999826	D	0.69078	0.997	P	0.60789	0.879	T	0.57464	-0.7807	10	0.87932	D	0	.	15.365	0.74513	1.0:0.0:0.0:0.0	.	29	O75325	LRRN2_HUMAN	S	29	ENSP00000356144:C29S;ENSP00000356145:C29S;ENSP00000356143:C29S	ENSP00000356143:C29S	C	-	1	0	LRRN2	202855659	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.337000	0.96545	2.099000	0.63709	0.529000	0.55759	TGC		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		9	26	0	0	0	0.008291	0	9	26				
NFASC	23114	broad.mit.edu	37	1	204943892	204943892	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204943892C>A	ENST00000401399.1	+	13	1698	c.1499C>A	c.(1498-1500)aCc>aAc	p.T500N	NFASC_ENST00000338586.6_Missense_Mutation_p.T500N|NFASC_ENST00000404076.1_Missense_Mutation_p.T494N|NFASC_ENST00000367171.4_Missense_Mutation_p.T500N|NFASC_ENST00000367172.4_Missense_Mutation_p.T500N|NFASC_ENST00000539706.1_Missense_Mutation_p.T511N|NFASC_ENST00000367170.4_Missense_Mutation_p.T500N|NFASC_ENST00000403080.1_Missense_Mutation_p.T500N|NFASC_ENST00000360049.4_Missense_Mutation_p.T511N|NFASC_ENST00000404907.1_Missense_Mutation_p.T511N|NFASC_ENST00000367169.4_Missense_Mutation_p.T500N|NFASC_ENST00000339876.6_Missense_Mutation_p.T500N|NFASC_ENST00000513543.1_Missense_Mutation_p.T511N|NFASC_ENST00000338515.6_Missense_Mutation_p.T500N			O94856	NFASC_HUMAN	neurofascin	500	Ig-like C2-type 5.				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)			GGCATCTACACCTGTGTCGCC	0.522																																							uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1498-1500)ACC>AAC		neurofascin isoform 1 precursor							144.0	133.0	136.0					1																	204943892		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.chr1:204943892C>A	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.1499C>A	1.37:g.204943892C>A	ENSP00000385637:p.Thr500Asn					NFASC_uc001hbh.2_Missense_Mutation_p.T500N|NFASC_uc010pqz.1_Missense_Mutation_p.T494N|NFASC_uc010pra.1_Missense_Mutation_p.T511N|NFASC_uc001hbi.2_Missense_Mutation_p.T511N|NFASC_uc010prb.1_Missense_Mutation_p.T511N|NFASC_uc010prc.1_Missense_Mutation_p.T67N|NFASC_uc001hbk.1_Missense_Mutation_p.T321N	p.T500N	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)		14	1827	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		500			Extracellular (Potential).|Ig-like C2-type 5.		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.1499C>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.589285|4.589285	0.86851|0.86851	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.36520	.|1.25;1.39;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.39;1.39;1.25;1.25;1.25;1.25	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.229113	.|0.30285	.|N	.|0.009970	T|T	0.62744|0.62744	0.2453|0.2453	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;P;B;P;P;P;P	.|0.53745	.|0.962;0.525;0.187;0.953;0.635;0.68;0.518	.|P;P;B;P;B;P;B	.|0.54629	.|0.757;0.508;0.082;0.577;0.187;0.5;0.339	T|T	0.68652|0.68652	-0.5352|-0.5352	5|10	.|0.62326	.|D	.|0.03	.|.	19.7118|19.7118	0.96099|0.96099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|500;511;511;500;500;511;500	.|O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	.|NFASC_HUMAN;.;.;.;.;.;.	T|N	470|500;500;500;500;500;500;511;511;511;500;500;494;500;511;511;487	.|ENSP00000356140:T500N;ENSP00000356139:T500N;ENSP00000356138:T500N;ENSP00000342128:T500N;ENSP00000344786:T500N;ENSP00000343509:T500N;ENSP00000438614:T511N;ENSP00000353154:T511N;ENSP00000356137:T500N;ENSP00000384875:T500N;ENSP00000385676:T494N;ENSP00000385637:T500N;ENSP00000384061:T511N;ENSP00000425908:T511N;ENSP00000415031:T487N	.|ENSP00000295776:T511N	P|T	+|+	1|2	0|0	NFASC|NFASC	203210515|203210515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.764000|2.764000	0.94973|0.94973	0.485000|0.485000	0.47835|0.47835	CCT|ACC		0.522	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		13	75	1	0	1.5842e-08	0.001855	2.38251e-08	13	75				
RCOR3	55758	broad.mit.edu	37	1	211487016	211487016	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:211487016G>T	ENST00000367005.4	+	11	1535	c.1394G>T	c.(1393-1395)cGt>cTt	p.R465L	RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.R523L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	465	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGCCACCCCGTCTAAACCCA	0.522																																							uc001hig.2		NA																	0				ovary(1)	1						c.(1393-1395)CGT>CTT		REST corepressor 3 isoform d							68.0	65.0	66.0					1																	211487016		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211487016G>T	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1394G>T	1.37:g.211487016G>T	ENSP00000355972:p.Arg465Leu					RCOR3_uc010psw.1_Missense_Mutation_p.R523L|RCOR3_uc001hif.2_3'UTR|RCOR3_uc009xcz.2_RNA	p.R465L	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	11	1563	+			465			Pro-rich.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.1394G>T	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240539	0.58995	.	.	ENSG00000117625	ENST00000419091;ENST00000367005	T;T	0.33654	1.4;1.44	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.44542	1.39	0.49483	D	0.99979	D;P	0.63046	0.992;0.491	D;B	0.72982	0.979;0.091	T	0.35375	-0.9791	10	0.21014	T	0.42	-8.1628	18.7762	0.91912	0.0:0.0:1.0:0.0	.	523;465	Q9P2K3-3;Q9P2K3	.;RCOR3_HUMAN	L	523;465	ENSP00000413929:R523L;ENSP00000355972:R465L	ENSP00000355972:R465L	R	+	2	0	RCOR3	209553639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.493000	0.90474	2.436000	0.82500	0.650000	0.86243	CGT		0.522	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		5	68	1	0	0.000602214	0.000602	0.000715729	5	68				
TATDN3	128387	broad.mit.edu	37	1	212988354	212988354	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:212988354G>T	ENST00000366974.4	+	10	775		c.e10-1		TATDN3_ENST00000525569.1_Splice_Site|TATDN3_ENST00000532324.1_Splice_Site|TATDN3_ENST00000526641.1_Splice_Site|TATDN3_ENST00000526997.1_Splice_Site|TATDN3_ENST00000366973.4_Splice_Site|TATDN3_ENST00000531963.1_Intron	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TCTTGTTTCAGGTACGGAATG	0.413																																							uc001hjo.2		NA																	0					0						c.e10-1		TatD DNase domain containing 3 isoform 1							142.0	142.0	142.0					1																	212988354		2203	4300	6503	SO:0001630	splice_region_variant	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212988354G>T	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.682-1G>T	1.37:g.212988354G>T						TATDN3_uc010ptj.1_Intron|TATDN3_uc010ptk.1_Splice_Site_p.V235_splice|TATDN3_uc001hjp.2_Splice_Site_p.V227_splice|TATDN3_uc010ptl.1_Splice_Site_p.V207_splice|TATDN3_uc010ptm.1_Splice_Site_p.V175_splice	p.V228_splice	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	10	776	+								A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Splice_Site	SNP	ENST00000366974.4	37	c.682_splice	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006152	0.74932	.	.	ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000366973;ENST00000526997;ENST00000527693	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8331	0.88688	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TATDN3	211054977	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.131000	0.89601	2.499000	0.84300	0.591000	0.81541	.		0.413	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838	Intron	38	110	1	0	1.07637e-12	0.004878	1.84618e-12	38	110				
PROX1	5629	broad.mit.edu	37	1	214184904	214184904	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:214184904G>T	ENST00000366958.4	+	4	2482	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	PROX1_ENST00000261454.4_Missense_Mutation_p.S625I|PROX1_ENST00000435016.1_Missense_Mutation_p.S625I|PROX1_ENST00000498508.2_Missense_Mutation_p.S625I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	625					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)		AAGTGGTTTAGCAATTTCCGT	0.378																																							uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1873-1875)AGC>ATC		prospero homeobox 1							146.0	128.0	134.0					1																	214184904		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.chr1:214184904G>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.1874G>T	1.37:g.214184904G>T	ENSP00000355925:p.Ser625Ile						p.S625I	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)	4	2146	+			625			Prospero-type homeobox.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1874G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139491	0.94560	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.63	5.63	0.86233	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80020	-0.1557	10	0.87932	D	0	-5.158	20.0401	0.97581	0.0:0.0:1.0:0.0	.	625	Q92786	PROX1_HUMAN	I	197;625;625;625;625	ENSP00000420283:S625I;ENSP00000355925:S625I;ENSP00000400694:S625I;ENSP00000261454:S625I	ENSP00000261454:S625I	S	+	2	0	PROX1	212251527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.805000	0.96524	0.655000	0.94253	AGC		0.378	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		9	69	1	0	3.09899e-07	0.004482	4.40883e-07	9	69				
USH2A	7399	broad.mit.edu	37	1	216243601	216243601	+	Missense_Mutation	SNP	C	C	A	rs149465057	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:216243601C>A	ENST00000307340.3	-	30	6277	c.5891G>T	c.(5890-5892)cGc>cTc	p.R1964L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1964L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1964	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAAGCTGCGGACTCTTGA	0.443										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5890-5892)CGC>CTC		usherin isoform B							108.0	96.0	100.0					1																	216243601		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243601C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5891G>T	1.37:g.216243601C>A	ENSP00000305941:p.Arg1964Leu	HNSCC(13;0.011)					p.R1964L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6278	-			1964			Extracellular (Potential).|Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5891G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499031	0.26861	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	5.57	-0.233	0.13078	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.396685	0.18743	N	0.132417	T	0.33556	0.0867	L	0.37630	1.12	0.20403	N	0.999908	B	0.28760	0.221	B	0.29663	0.105	T	0.14587	-1.0467	10	0.18710	T	0.47	.	4.8292	0.13432	0.1608:0.2715:0.0:0.5677	.	1964	O75445	USH2A_HUMAN	L	1964	ENSP00000305941:R1964L;ENSP00000355910:R1964L	ENSP00000305941:R1964L	R	-	2	0	USH2A	214310224	0.978000	0.34361	0.568000	0.28447	0.983000	0.72400	0.047000	0.14056	0.104000	0.17725	-0.143000	0.13931	CGC		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	44	1	0	3.32936e-07	0.006122	4.72157e-07	19	44				
USH2A	7399	broad.mit.edu	37	1	216405433	216405433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:216405433G>T	ENST00000307340.3	-	14	3241	c.2855C>A	c.(2854-2856)tCa>tAa	p.S952*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S952*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.S952*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	952	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTATGGCATGAGCATGGCAG	0.393										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2854-2856)TCA>TAA		usherin isoform B							109.0	98.0	102.0					1																	216405433		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216405433G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2855C>A	1.37:g.216405433G>T	ENSP00000305941:p.Ser952*	HNSCC(13;0.011)				USH2A_uc001hkv.2_Nonsense_Mutation_p.S952*	p.S952*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3242	-			952			Extracellular (Potential).|Laminin EGF-like 9.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.2855C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	40	8.195268	0.98699	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.93	4.04	0.47022	.	0.533866	0.14363	N	0.324317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3754	0.38278	0.2698:0.0:0.7302:0.0	.	.	.	.	X	952	.	ENSP00000305941:S952X	S	-	2	0	USH2A	214472056	0.414000	0.25408	0.010000	0.14722	0.179000	0.23085	0.721000	0.25911	0.825000	0.34637	0.650000	0.86243	TCA		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	63	1	0	6.49762e-13	0.006122	1.1159e-12	18	63				
EPRS	2058	broad.mit.edu	37	1	220153525	220153525	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:220153525C>A	ENST00000366923.3	-	26	3882	c.3613G>T	c.(3613-3615)Gtt>Ttt	p.V1205F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1205	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CCTTTAACAACAGGAATTGCC	0.358																																							uc001hly.1		NA																	0				ovary(1)|skin(1)	2						c.(3613-3615)GTT>TTT		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						147.0	138.0	141.0					1																	220153525		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220153525C>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3613G>T	1.37:g.220153525C>A	ENSP00000355890:p.Val1205Phe						p.V1205F	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	26	3883	-			1205			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3613G>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703034	0.88924	.	.	ENSG00000136628	ENST00000366923	T	0.66638	-0.22	5.96	5.05	0.67936	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.053221	0.85682	D	0.000000	D	0.85852	0.5793	M	0.93241	3.395	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.89800	0.3974	10	0.87932	D	0	-24.2925	15.4801	0.75517	0.0:0.9336:0.0:0.0664	.	1205	P07814	SYEP_HUMAN	F	1205	ENSP00000355890:V1205F	ENSP00000355890:V1205F	V	-	1	0	EPRS	218220148	1.000000	0.71417	0.964000	0.40570	0.933000	0.57130	4.919000	0.63383	1.533000	0.49186	0.655000	0.94253	GTT		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		24	62	1	0	2.98393e-07	0.00278	4.26775e-07	24	62				
EPRS	2058	broad.mit.edu	37	1	220160553	220160553	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:220160553G>C	ENST00000366923.3	-	20	3238	c.2969C>G	c.(2968-2970)tCt>tGt	p.S990C	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	990	Charged.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGGTTTTTAGAAGGGTCTTT	0.423																																							uc001hly.1		NA																	0				ovary(1)|skin(1)	2						c.(2968-2970)TCT>TGT		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						110.0	105.0	107.0					1																	220160553		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220160553G>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2969C>G	1.37:g.220160553G>C	ENSP00000355890:p.Ser990Cys					EPRS_uc010puf.1_Missense_Mutation_p.S741C|EPRS_uc001hlz.1_Missense_Mutation_p.S997C	p.S990C	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	20	3239	-			990			Charged.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2969C>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544384	0.45280	.	.	ENSG00000136628	ENST00000366923	T	0.07327	3.2	5.79	1.16	0.20824	.	1.337450	0.04386	N	0.361620	T	0.12987	0.0315	L	0.47716	1.5	0.09310	N	1	B	0.28933	0.228	B	0.40285	0.325	T	0.43766	-0.9371	10	0.59425	D	0.04	-0.3229	4.5651	0.12180	0.3158:0.0:0.4543:0.2299	.	990	P07814	SYEP_HUMAN	C	990	ENSP00000355890:S990C	ENSP00000355890:S990C	S	-	2	0	EPRS	218227176	0.009000	0.17119	0.000000	0.03702	0.990000	0.78478	1.462000	0.35266	-0.046000	0.13446	0.563000	0.77884	TCT		0.423	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		12	96	0	0	0	0.000978	0	12	96				
GALNT2	2590	broad.mit.edu	37	1	230372467	230372467	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:230372467A>T	ENST00000366672.4	+	6	675	c.603A>T	c.(601-603)cgA>cgT	p.R201R	GALNT2_ENST00000541865.1_Silent_p.R111R|GALNT2_ENST00000543760.1_Silent_p.R163R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGATCGACGAGAAGGTAAGA	0.398																																							uc010pwa.1		NA																	0				ovary(2)	2						c.(601-603)CGA>CGT		polypeptide N-acetylgalactosaminyltransferase 2							93.0	94.0	93.0					1																	230372467		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230372467A>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.603A>T	1.37:g.230372467A>T						GALNT2_uc010pvy.1_Silent_p.R163R|GALNT2_uc010pvz.1_RNA	p.R201R	NM_004481	NP_004472	Q10471	GALT2_HUMAN			6	675	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	201			Lumenal (Potential).|Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.603A>T	CCDS1582.1																																																																																				0.398	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		6	33	0	0	0	0.001984	0	6	33				
RYR2	6262	broad.mit.edu	37	1	237540734	237540734	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237540734T>A	ENST00000366574.2	+	8	892	c.575T>A	c.(574-576)tTg>tAg	p.L192*	RYR2_ENST00000542537.1_Splice_Site_p.L176*|RYR2_ENST00000360064.6_Splice_Site_p.L190*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	192	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAAGGTACTTGGTAAGTGTG	0.383																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(574-576)TTG>TAG		cardiac muscle ryanodine receptor							111.0	108.0	109.0					1																	237540734		1962	4141	6103	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540734T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.576+1T>A	1.37:g.237540734T>A							p.L192*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	695	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	192			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.575T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	38	6.866617	0.97897	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.17	5.17	0.71159	.	0.000000	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2946	0.66302	0.0:0.0:0.0:1.0	.	.	.	.	X	192;190;176	.	ENSP00000353174:L190X	L	+	2	0	RYR2	235607357	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.701000	0.84566	2.083000	0.62718	0.455000	0.32223	TTG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Nonsense_Mutation	5	24	0	0	0	0.001168	0	5	24				
RYR2	6262	broad.mit.edu	37	1	237753237	237753238	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237753237_237753238CC>AA	ENST00000366574.2	+	30	4060_4061	c.3743_3744CC>AA	c.(3742-3744)aCC>aAA	p.T1248K	RYR2_ENST00000542537.1_Missense_Mutation_p.T1232K|RYR2_ENST00000360064.6_Missense_Mutation_p.T1246K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1248	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGATATTACCATGTGGCTGA	0.386																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3742-3744)ACC>AAA		cardiac muscle ryanodine receptor																																				SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753237_237753238CC>AA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237753237_237753238delinsAA	ENSP00000355533:p.Thr1248Lys						p.T1248K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3863_3864	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1248			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	DNP	ENST00000366574.2	37	c.3743_3744CC>AA	CCDS55691.1																																																																																				0.386	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	33	0	0	0	0.004672	0	6	33				
RYR2	6262	broad.mit.edu	37	1	237791243	237791243	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237791243C>A	ENST00000366574.2	+	41	6620	c.6303C>A	c.(6301-6303)gcC>gcA	p.A2101A	RYR2_ENST00000542537.1_Silent_p.A2085A|RYR2_ENST00000360064.6_Silent_p.A2099A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2101	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTTCGGGCCCTGCCAAAGA	0.562																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6301-6303)GCC>GCA		cardiac muscle ryanodine receptor							83.0	84.0	84.0					1																	237791243		1983	4144	6127	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791243C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6303C>A	1.37:g.237791243C>A							p.A2101A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6423	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2101			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6303C>A	CCDS55691.1																																																																																				0.562	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	27	1	0	2.74318e-10	0.006214	4.40681e-10	9	27				
RYR2	6262	broad.mit.edu	37	1	237794803	237794803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237794803G>T	ENST00000366574.2	+	42	6834	c.6517G>T	c.(6517-6519)Gag>Tag	p.E2173*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E2157*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E2171*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACTGTGATGGAGGTCATGGT	0.438																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6517-6519)GAG>TAG		cardiac muscle ryanodine receptor							110.0	116.0	114.0					1																	237794803		2039	4228	6267	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794803G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6517G>T	1.37:g.237794803G>T	ENSP00000355533:p.Glu2173*						p.E2173*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6637	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2173			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.6517G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	48	14.718048	0.99807	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-17.9264	19.1044	0.93287	0.0:0.0:1.0:0.0	.	.	.	.	X	2173;2171;2157	.	ENSP00000353174:E2171X	E	+	1	0	RYR2	235861426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.587000	0.87381	0.650000	0.86243	GAG		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	23	1	0	1.23904e-05	0.000602	1.62503e-05	5	23				
ZP4	57829	broad.mit.edu	37	1	238048716	238048716	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:238048716G>A	ENST00000366570.4	-	8	1293	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	379	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCCACTGTGGCTGACTCAGG	0.537																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(1135-1137)CCA>TCA		zona pellucida glycoprotein 4 preproprotein							67.0	70.0	69.0					1																	238048716		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048716G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1135C>T	1.37:g.238048716G>A	ENSP00000355529:p.Pro379Ser					LOC100130331_uc010pyc.1_Intron	p.P379S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1135	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	379			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1135C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826430	0.50739	.	.	ENSG00000116996	ENST00000366570	D	0.82619	-1.63	5.1	3.0	0.34707	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.122405	0.56097	N	0.000034	D	0.84911	0.5577	M	0.76170	2.325	0.09310	N	1	P	0.40534	0.72	P	0.48524	0.58	T	0.77140	-0.2697	10	0.54805	T	0.06	-5.4957	9.3714	0.38256	0.0877:0.0:0.7593:0.153	.	379	Q12836	ZP4_HUMAN	S	379	ENSP00000355529:P379S	ENSP00000355529:P379S	P	-	1	0	ZP4	236115339	0.641000	0.27251	0.006000	0.13384	0.963000	0.63663	4.152000	0.58111	1.149000	0.42402	0.655000	0.94253	CCA		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			11	55	0	0	0	0.000978	0	11	55				
CHRM3	1131	broad.mit.edu	37	1	240072433	240072433	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:240072433G>T	ENST00000255380.4	+	5	2461	c.1682G>T	c.(1681-1683)tGc>tTc	p.C561F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	561					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)	CTGCTGCTGTGCCAGTGTGAC	0.517																																							uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(1681-1683)TGC>TTC		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)						53.0	52.0	53.0					1																	240072433		2203	4300	6503	SO:0001583	missense	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.chr1:240072433G>T	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.1682G>T	1.37:g.240072433G>T	ENSP00000255380:p.Cys561Phe						p.C561F	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2461	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	561			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1682G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767171	0.69878	.	.	ENSG00000133019	ENST00000255380	T	0.41758	0.99	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73817	-0.3863	10	0.87932	D	0	-21.4576	19.5758	0.95444	0.0:0.0:1.0:0.0	.	561	P20309	ACM3_HUMAN	F	561	ENSP00000255380:C561F	ENSP00000255380:C561F	C	+	2	0	CHRM3	238139056	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.869000	0.99810	2.632000	0.89209	0.655000	0.94253	TGC		0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		14	38	1	0	0.00185496	0.001855	0.00218336	14	38				
FMN2	56776	broad.mit.edu	37	1	240256545	240256545	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:240256545G>A	ENST00000319653.9	+	1	1366	c.1136G>A	c.(1135-1137)gGg>gAg	p.G379E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	379					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGGCTGGGGGAAGAGCCG	0.726																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1135-1137)GGG>GAG		formin 2							9.0	13.0	12.0					1																	240256545		2153	4220	6373	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256545G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1136G>A	1.37:g.240256545G>A	ENSP00000318884:p.Gly379Glu					FMN2_uc010pye.1_Missense_Mutation_p.G379E	p.G379E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1361	+	Ovarian(103;0.127)	all_cancers(173;0.013)	379					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1136G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	0.282	-0.985778	0.02180	.	.	ENSG00000155816	ENST00000319653	T	0.20881	2.04	4.15	-8.3	0.01005	.	1.143470	0.06598	N	0.753210	T	0.05547	0.0146	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	10	0.02654	T	1	.	7.2008	0.25879	0.3952:0.0:0.4249:0.1799	.	379	Q9NZ56	FMN2_HUMAN	E	379	ENSP00000318884:G379E	ENSP00000318884:G379E	G	+	2	0	FMN2	238323168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.145000	0.03194	-2.392000	0.00585	-2.867000	0.00100	GGG		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	9	0	0	0	0.000248	0	4	9				
MAP1LC3C	440738	broad.mit.edu	37	1	242161836	242161836	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:242161836G>A	ENST00000357246.3	-	3	265	c.201C>T	c.(199-201)acC>acT	p.T67T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	67					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.T67T(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGAGGAACTGGGTCATGGTCA	0.622											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hzk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(199-201)ACC>ACT		microtubule-associated protein 1 light chain 3							66.0	66.0	66.0					1																	242161836		2203	4300	6503	SO:0001819	synonymous_variant	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242161836G>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.201C>T	1.37:g.242161836G>A			OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2432		p.T67T	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		3	276	-			67					A0PJY8|A2RUP0	Silent	SNP	ENST00000357246.3	37	c.201C>T	CCDS31074.1																																																																																				0.622	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		8	44	0	0	0	0.004482	0	8	44				
NLRP3	114548	broad.mit.edu	37	1	247587966	247587966	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:247587966C>A	ENST00000336119.3	+	3	1967	c.1221C>A	c.(1219-1221)acC>acA	p.T407T	NLRP3_ENST00000348069.2_Silent_p.T407T|NLRP3_ENST00000391828.3_Silent_p.T407T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.T407T|NLRP3_ENST00000366496.2_Silent_p.T407T|NLRP3_ENST00000366497.2_Silent_p.T407T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	407	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		T -> P (in CINCA). {ECO:0000269|PubMed:14630794}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCTTCACCATGTGCTTCA	0.547																																							uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1219-1221)ACC>ACA		NLR family, pyrin domain containing 3 isoform a							105.0	81.0	89.0					1																	247587966		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587966C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1221C>A	1.37:g.247587966C>A						NLRP3_uc001ics.2_Silent_p.T407T|NLRP3_uc001icu.2_Silent_p.T407T|NLRP3_uc001icw.2_Silent_p.T407T|NLRP3_uc001icv.2_Silent_p.T407T|NLRP3_uc010pyw.1_Silent_p.T405T|NLRP3_uc001ict.1_Silent_p.T405T	p.T407T	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1359	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	407		T -> P (in CINCA).	NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.1221C>A	CCDS1632.1																																																																																				0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		10	42	1	0	7.48243e-07	0.006214	1.04676e-06	10	42				
NLRP3	114548	broad.mit.edu	37	1	247587984	247587984	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:247587984G>T	ENST00000336119.3	+	3	1985	c.1239G>T	c.(1237-1239)ctG>ctT	p.L413L	NLRP3_ENST00000348069.2_Silent_p.L413L|NLRP3_ENST00000391828.3_Silent_p.L413L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.L413L|NLRP3_ENST00000366496.2_Silent_p.L413L|NLRP3_ENST00000366497.2_Silent_p.L413L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	413	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATCCCCCTGGTCTGCTGGA	0.547																																							uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1237-1239)CTG>CTT		NLR family, pyrin domain containing 3 isoform a							102.0	80.0	87.0					1																	247587984		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587984G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1239G>T	1.37:g.247587984G>T						NLRP3_uc001ics.2_Silent_p.L413L|NLRP3_uc001icu.2_Silent_p.L413L|NLRP3_uc001icw.2_Silent_p.L413L|NLRP3_uc001icv.2_Silent_p.L413L|NLRP3_uc010pyw.1_Silent_p.L411L|NLRP3_uc001ict.1_Silent_p.L411L	p.L413L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1377	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	413			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.1239G>T	CCDS1632.1																																																																																				0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		10	37	1	0	1.76689e-08	0.006214	2.64247e-08	10	37				
OR2T12	127064	broad.mit.edu	37	1	248458172	248458172	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248458172C>A	ENST00000317996.1	-	1	708	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			GAGCAGGTGGCAAAGGCCTTC	0.517																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(709-711)GCC>TCC		olfactory receptor, family 2, subfamily T,							84.0	83.0	83.0					1																	248458172		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458172C>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.709G>T	1.37:g.248458172C>A	ENSP00000324583:p.Ala237Ser						p.A237S	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	709	-	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)		237			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.709G>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.284090	0.40394	.	.	ENSG00000177201	ENST00000317996	T	0.00013	9.28	1.55	0.087	0.14448	GPCR, rhodopsin-like superfamily (1);	0.795910	0.10223	N	0.700685	T	0.00039	0.0001	N	0.01152	-0.98	0.24765	N	0.992908	B	0.30889	0.299	B	0.34824	0.19	T	0.00098	-1.2070	10	0.37606	T	0.19	.	6.0941	0.20010	0.6556:0.3443:0.0:0.0	.	237	Q8NG77	O2T12_HUMAN	S	237	ENSP00000324583:A237S	ENSP00000324583:A237S	A	-	1	0	OR2T12	246524795	0.000000	0.05858	0.739000	0.30968	0.743000	0.42351	-0.896000	0.04114	0.645000	0.30675	0.175000	0.17021	GCC		0.517	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		16	80	1	0	3.41278e-10	0.00499	5.4499e-10	16	80				
OR2T2	401992	broad.mit.edu	37	1	248616358	248616358	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248616358T>A	ENST00000342927.3	+	1	282	c.260T>A	c.(259-261)cTg>cAg	p.L87Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	87						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(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CAGGACCTCCTGTCCAAGGAC	0.537																																							uc001iek.1		NA																	0				skin(1)	1						c.(259-261)CTG>CAG		olfactory receptor, family 2, subfamily T,							159.0	191.0	180.0					1																	248616358		2203	4298	6501	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616358T>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.260T>A	1.37:g.248616358T>A	ENSP00000343062:p.Leu87Gln						p.L87Q	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	260	+	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)		87			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.260T>A	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	t	14.88	2.666482	0.47677	.	.	ENSG00000196240	ENST00000342927	T	0.00542	6.69	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	N	0.002245	T	0.01320	0.0043	M	0.68317	2.08	0.09310	N	1	D	0.62365	0.991	P	0.57502	0.822	T	0.38972	-0.9636	10	0.87932	D	0	.	11.1251	0.48312	0.0:0.0:0.0:1.0	.	87	Q6IF00	OR2T2_HUMAN	Q	87	ENSP00000343062:L87Q	ENSP00000343062:L87Q	L	+	2	0	OR2T2	246682981	0.810000	0.29049	0.291000	0.24904	0.879000	0.50718	6.473000	0.73572	1.449000	0.47699	0.248000	0.18094	CTG		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		9	204	0	0	0	0.004007	0	9	204				
OR2T27	403239	broad.mit.edu	37	1	248813817	248813817	+	Nonsense_Mutation	SNP	G	G	T	rs571728403		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248813817G>T	ENST00000344889.3	-	1	368	c.369C>A	c.(367-369)taC>taA	p.Y123*		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	123						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(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGGCTACGTAGCGATCAT	0.542																																							uc010pzo.1		NA																	0				skin(1)	1						c.(367-369)TAC>TAA		olfactory receptor, family 2, subfamily T,							102.0	46.0	65.0					1																	248813817		2202	4276	6478	SO:0001587	stop_gained	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813817G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.369C>A	1.37:g.248813817G>T	ENSP00000342008:p.Tyr123*						p.Y123*	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	369	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	123			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000344889.3	37	c.369C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	7.826	0.718912	0.15372	.	.	ENSG00000187701	ENST00000344889	.	.	.	3.3	-3.64	0.04515	.	0.000000	0.36034	N	0.002838	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5913	0.45310	0.4193:0.0:0.5807:0.0	.	.	.	.	X	123	.	ENSP00000342008:Y123X	Y	-	3	2	OR2T27	246880440	0.000000	0.05858	0.012000	0.15200	0.103000	0.19146	-1.768000	0.01794	-0.596000	0.05821	0.194000	0.17425	TAC		0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		20	47	1	0	3.99206e-14	0.007413	7.06368e-14	20	47				
FAM208B	54906	broad.mit.edu	37	10	5791571	5791571	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:5791571C>G	ENST00000328090.5	+	15	6812	c.6187C>G	c.(6187-6189)Ctg>Gtg	p.L2063V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2063																	AGCCAGCAGTCTGGACAGCTC	0.493																																							uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(6187-6189)CTG>GTG		hypothetical protein LOC54906							57.0	61.0	60.0					10																	5791571		1975	4173	6148	SO:0001583	missense	54906							g.chr10:5791571C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6187C>G	10.37:g.5791571C>G	ENSP00000328426:p.Leu2063Val					C10orf18_uc001iik.2_Missense_Mutation_p.L907V	p.L2063V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	6812	+			2063					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.6187C>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	3.211	-0.161551	0.06502	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04603	3.59	5.92	-1.57	0.08506	.	1.857050	0.02450	N	0.085502	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.22276	0.067	B	0.20184	0.028	T	0.39057	-0.9632	10	0.12103	T	0.63	.	3.419	0.07386	0.1165:0.3422:0.3746:0.1667	.	2063	Q5VWN6	F208B_HUMAN	V	2063;1258	ENSP00000328426:L2063V	ENSP00000328426:L2063V	L	+	1	2	C10orf18	5831577	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.985000	0.03751	-0.246000	0.09611	0.555000	0.69702	CTG		0.493	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		10	71	0	0	0	0.006214	0	10	71				
SFMBT2	57713	broad.mit.edu	37	10	7214086	7214086	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7214086T>C	ENST00000361972.4	-	19	2276	c.2186A>G	c.(2185-2187)gAt>gGt	p.D729G	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D729G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	729					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGCGGTGTCATCGTCCATGGC	0.692																																							uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2185-2187)GAT>GGT		Scm-like with four mbt domains 2							28.0	33.0	31.0					10																	7214086		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214086T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2186A>G	10.37:g.7214086T>C	ENSP00000355109:p.Asp729Gly					SFMBT2_uc001ijn.1_Missense_Mutation_p.D729G|SFMBT2_uc010qay.1_Missense_Mutation_p.D564G	p.D729G	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			19	2277	-			729					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2186A>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327849	0.41197	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.15256	2.44;2.44	4.58	4.58	0.56647	.	0.813455	0.11647	N	0.543220	T	0.21468	0.0517	M	0.61703	1.905	0.80722	D	1	B	0.29531	0.247	B	0.27262	0.078	T	0.02844	-1.1103	10	0.34782	T	0.22	.	14.2395	0.65948	0.0:0.0:0.0:1.0	.	729	Q5VUG0	SMBT2_HUMAN	G	729	ENSP00000355109:D729G;ENSP00000380353:D729G	ENSP00000355109:D729G	D	-	2	0	SFMBT2	7254092	1.000000	0.71417	0.997000	0.53966	0.263000	0.26337	4.980000	0.63812	1.821000	0.53095	0.459000	0.35465	GAT		0.692	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		3	14	0	0	0	0.004672	0	3	14				
ITIH2	3698	broad.mit.edu	37	10	7755193	7755193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7755193G>T	ENST00000358415.4	+	5	578	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.G127C	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	138	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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						GAAAACTGTGGGCCGAGCTCT	0.483																																							uc001ijs.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(412-414)GGC>TGC		inter-alpha globulin inhibitor H2 polypeptide							70.0	72.0	71.0					10																	7755193		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7755193G>T	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.412G>T	10.37:g.7755193G>T	ENSP00000351190:p.Gly138Cys						p.G138C	NM_002216	NP_002207	P19823	ITIH2_HUMAN			5	574	+			138			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.412G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653442	0.88056	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22743	1.94;1.94;1.94	5.44	5.44	0.79542	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.050951	0.85682	D	0.000000	T	0.42607	0.1210	L	0.51422	1.61	0.49582	D	0.999807	D	0.69078	0.997	D	0.67900	0.954	T	0.24728	-1.0152	10	0.87932	D	0	-23.1918	19.2798	0.94048	0.0:0.0:1.0:0.0	.	138	P19823	ITIH2_HUMAN	C	138;113;127	ENSP00000351190:G138C;ENSP00000388826:G113C;ENSP00000368906:G127C	ENSP00000351190:G138C	G	+	1	0	ITIH2	7795199	1.000000	0.71417	0.918000	0.36340	0.795000	0.44927	9.452000	0.97615	2.549000	0.85964	0.563000	0.77884	GGC		0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		11	74	1	0	0.00185496	0.001855	0.00218336	11	74				
ITIH2	3698	broad.mit.edu	37	10	7771952	7771952	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7771952G>T	ENST00000358415.4	+	12	1483	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K428N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	439	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						AAAACGTTAAGGAGAACATCC	0.358																																							uc001ijs.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1315-1317)AAG>AAT		inter-alpha globulin inhibitor H2 polypeptide							119.0	110.0	113.0					10																	7771952		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7771952G>T	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.1317G>T	10.37:g.7771952G>T	ENSP00000351190:p.Lys439Asn						p.K439N	NM_002216	NP_002207	P19823	ITIH2_HUMAN			12	1479	+			439			VWFA.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1317G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811444	0.50527	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	D;D	0.83914	-1.78;-1.78	5.26	4.35	0.52113	von Willebrand factor, type A (3);	0.048158	0.85682	D	0.000000	D	0.90662	0.7071	M	0.80183	2.485	0.50313	D	0.999869	D	0.76494	0.999	D	0.81914	0.995	D	0.91712	0.5382	10	0.87932	D	0	-18.2173	13.7513	0.62910	0.0739:0.0:0.9261:0.0	.	439	P19823	ITIH2_HUMAN	N	439;428	ENSP00000351190:K439N;ENSP00000368906:K428N	ENSP00000351190:K439N	K	+	3	2	ITIH2	7811958	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	3.724000	0.54962	1.220000	0.43490	0.643000	0.83706	AAG		0.358	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		15	25	1	0	0.000422831	0.004007	0.000509294	15	25				
TAF3	83860	broad.mit.edu	37	10	7866463	7866463	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7866463G>T	ENST00000344293.5	+	2	555	c.349G>T	c.(349-351)Gca>Tca	p.A117S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	117					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGTAAAGATGCAGAGGAAAG	0.388																																							uc010qbd.1		NA																	0				ovary(1)	1						c.(349-351)GCA>TCA		RNA polymerase II transcription factor TAFII140							222.0	198.0	206.0					10																	7866463		1889	4126	6015	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7866463G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.349G>T	10.37:g.7866463G>T	ENSP00000340271:p.Ala117Ser						p.A117S	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	349	+			117					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.349G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954104	0.92726	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.19250	2.16	5.43	5.43	0.79202	.	0.000000	0.49916	D	0.000125	T	0.38134	0.1029	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.05099	-1.0906	10	0.08837	T	0.75	-15.937	19.2581	0.93955	0.0:0.0:1.0:0.0	.	117	Q5VWG9	TAF3_HUMAN	S	117	ENSP00000340271:A117S	ENSP00000340271:A117S	A	+	1	0	TAF3	7906469	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.790000	0.99075	2.547000	0.85894	0.655000	0.94253	GCA		0.388	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		28	55	1	0	0.000117367	0.005443	0.000145008	28	55				
DHTKD1	55526	broad.mit.edu	37	10	12159749	12159749	+	Silent	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:12159749A>C	ENST00000263035.4	+	14	2459	c.2397A>C	c.(2395-2397)ccA>ccC	p.P799P	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	799					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGTGGATCCAAAAAAGTAAG	0.413																																							uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2395-2397)CCA>CCC		dehydrogenase E1 and transketolase domain							134.0	117.0	123.0					10																	12159749		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12159749A>C	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2397A>C	10.37:g.12159749A>C							p.P799P	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2496	+		Renal(717;0.228)	799					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2397A>C	CCDS7087.1																																																																																				0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		6	80	0	0	0	0.001168	0	6	80				
PRPF18	8559	broad.mit.edu	37	10	13672285	13672285	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:13672285G>A	ENST00000378572.3	+	10	1134	c.974G>A	c.(973-975)tGc>tAc	p.C325Y	RP11-295P9.3_ENST00000596044.1_Missense_Mutation_p.C1Y	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	325					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						ATGACCATTTGCCAGAAACAC	0.378																																							uc001imp.2		NA																	0				central_nervous_system(1)	1						c.(973-975)TGC>TAC		PRP18 pre-mRNA processing factor 18 homolog							202.0	178.0	187.0					10																	13672285		2203	4300	6503	SO:0001583	missense	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13672285G>A	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.974G>A	10.37:g.13672285G>A	ENSP00000367835:p.Cys325Tyr					PRPF18_uc001imq.2_Intron	p.C325Y	NM_003675	NP_003666	Q99633	PRP18_HUMAN			10	1122	+			325					Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	c.974G>A	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461993	0.84425	.	.	ENSG00000165630	ENST00000378572	.	.	.	5.66	5.66	0.87406	Prp18 (3);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.86028	2.79	0.80722	D	1	P	0.46912	0.886	P	0.62435	0.902	T	0.83218	-0.0070	9	0.45353	T	0.12	-10.9777	19.7452	0.96250	0.0:0.0:1.0:0.0	.	325	Q99633	PRP18_HUMAN	Y	325	.	ENSP00000367835:C325Y	C	+	2	0	PRPF18	13712291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.499000	0.90494	2.672000	0.90937	0.591000	0.81541	TGC		0.378	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			12	68	0	0	0	0.003163	0	12	68				
FAM171A1	221061	broad.mit.edu	37	10	15256342	15256342	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15256342G>C	ENST00000378116.4	-	8	1251	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	415						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGGAGAGCTTGAGCATGGGGG	0.582																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1243-1245)CTC>CTG		hypothetical protein LOC221061 precursor							59.0	64.0	62.0					10																	15256342		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256342G>C	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1245C>G	10.37:g.15256342G>C							p.L415L	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	1252	-			415			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1245C>G	CCDS31154.1																																																																																				0.582	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		3	75	0	0	0	0.004672	0	3	75				
FAM171A1	221061	broad.mit.edu	37	10	15263042	15263042	+	Missense_Mutation	SNP	C	C	A	rs146109085		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15263042C>A	ENST00000378116.4	-	6	778	c.772G>T	c.(772-774)Ggt>Tgt	p.G258C	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	258						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGACCCAGACCGCTCTTCAGC	0.537																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(772-774)GGT>TGT		hypothetical protein LOC221061 precursor							85.0	73.0	77.0					10																	15263042		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15263042C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.772G>T	10.37:g.15263042C>A	ENSP00000367356:p.Gly258Cys						p.G258C	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			6	779	-			258			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.772G>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116756	0.37339	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.47528	0.84	5.79	5.79	0.91817	.	0.155509	0.56097	D	0.000040	T	0.60702	0.2289	M	0.71206	2.165	0.36071	D	0.842108	D	0.59767	0.986	P	0.60789	0.879	T	0.71293	-0.4636	10	0.87932	D	0	-22.6846	7.586	0.27993	0.0:0.8055:0.0:0.1945	.	258	Q5VUB5	F1711_HUMAN	C	258;259	ENSP00000367356:G258C	ENSP00000367356:G258C	G	-	1	0	FAM171A1	15303048	1.000000	0.71417	0.300000	0.25030	0.084000	0.17831	4.671000	0.61590	2.718000	0.92993	0.655000	0.94253	GGT		0.537	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		5	59	1	0	1.23904e-05	0.000602	1.62503e-05	5	59				
ITGA8	8516	broad.mit.edu	37	10	15760795	15760795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15760795G>A	ENST00000378076.3	-	2	666	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	105					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCCTGCACTGCGCAGACCCC	0.597																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(313-315)CAG>TAG		integrin, alpha 8 precursor							131.0	115.0	121.0					10																	15760795		2203	4300	6503	SO:0001587	stop_gained	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760795G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.313C>T	10.37:g.15760795G>A	ENSP00000367316:p.Gln105*					ITGA8_uc010qcb.1_Nonsense_Mutation_p.Q105*	p.Q105*	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	313	-			105			Extracellular (Potential).|FG-GAP 1.		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.313C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	40	8.242541	0.98722	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	4.79	4.79	0.61399	.	0.971212	0.08556	N	0.928325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.3208	0.60432	0.0:0.2872:0.7128:0.0	.	.	.	.	X	105	.	ENSP00000367316:Q105X	Q	-	1	0	ITGA8	15800801	0.085000	0.21516	0.764000	0.31436	0.994000	0.84299	2.686000	0.46968	2.492000	0.84095	0.561000	0.74099	CAG		0.597	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	78	0	0	0	0.00308	0	7	78				
MRC1	4360	broad.mit.edu	37	10	17949705	17949705	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:17949705A>G	ENST00000331429.2	+	28	4172	c.4069A>G	c.(4069-4071)Aga>Gga	p.R1357G																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTTGTAAAAGACCAAAAAG	0.363																																						GBM(115;1153 1594 28187 28781 35884)	uc001ipk.2		NA																	0					0						c.(4069-4071)AGA>GGA		mannose receptor C type 1 precursor							153.0	166.0	162.0					10																	17949705		2183	4285	6468	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949705A>G																												ENST00000331429.2:c.4069A>G	10.37:g.17949705A>G	ENSP00000332124:p.Arg1357Gly						p.R1357G	NM_002438	NP_002429	P22897	MRC1_HUMAN			28	4172	+			1357			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000331429.2	37	c.4069A>G		.	.	.	.	.	.	.	.	.	.	.	12.62	1.992778	0.35131	.	.	ENSG00000183748	ENST00000331429	T	0.18502	2.21	4.04	4.04	0.47022	.	1.053440	0.07510	U	0.908805	T	0.15435	0.0372	.	.	.	0.24849	N	0.992418	P	0.37594	0.601	B	0.34038	0.174	T	0.13072	-1.0523	8	0.35671	T	0.21	-11.8523	13.1776	0.59637	1.0:0.0:0.0:0.0	.	1357	B9EJA8	.	G	1357	ENSP00000332124:R1357G	ENSP00000332124:R1357G	R	+	1	2	AL928580.1	17989711	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.794000	0.55492	1.693000	0.51124	0.416000	0.27883	AGA		0.363	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			49	111	0	0	0	0.00361	0	49	111				
MLLT10	8028	broad.mit.edu	37	10	22002777	22002777	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:22002777C>T	ENST00000307729.7	+	14	1954	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	MLLT10_ENST00000446906.2_Silent_p.S592S|MLLT10_ENST00000377059.3_Silent_p.S592S|MLLT10_ENST00000377072.3_Silent_p.S608S			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	592	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCCTGTCTCCAGCTCTCACT	0.453			T	"""MLL, PICALM, CDK6"""	AL																																		uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(1822-1824)TCC>TCT		myeloid/lymphoid or mixed-lineage leukemia							126.0	120.0	122.0					10																	22002777		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002777C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1776C>T	10.37:g.22002777C>T						MLLT10_uc001iqt.2_Silent_p.S592S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.S592S|MLLT10_uc001ira.2_Silent_p.S49S|MLLT10_uc001irb.2_RNA	p.S608S	NM_004641	NP_004632	P55197	AF10_HUMAN			15	2172	+			608			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.1824C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318210	0.23994	.	.	ENSG00000078403	ENST00000420525	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	T	0.56321	0.1977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54873	-0.8228	4	.	.	.	.	6.5841	0.22610	0.1327:0.6693:0.1283:0.0697	.	.	.	.	L	155	.	.	P	+	2	0	MLLT10	22042783	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.024000	0.30077	1.412000	0.46977	0.563000	0.77884	CCA		0.453	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			13	65	0	0	0	0.004007	0	13	65				
GPR158	57512	broad.mit.edu	37	10	25883274	25883274	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:25883274C>A	ENST00000376351.3	+	9	2305	c.1946C>A	c.(1945-1947)gCa>gAa	p.A649E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	649					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGTATTTTGCACATACTCAT	0.318																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1945-1947)GCA>GAA		G protein-coupled receptor 158 precursor							211.0	193.0	199.0					10																	25883274		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25883274C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1946C>A	10.37:g.25883274C>A	ENSP00000365529:p.Ala649Glu					GPR158_uc001isk.2_Missense_Mutation_p.A24E	p.A649E	NM_020752	NP_065803	Q5T848	GP158_HUMAN			9	2006	+			649			Helical; Name=7; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1946C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337561	0.81911	.	.	ENSG00000151025	ENST00000376351	D	0.88431	-2.38	5.62	5.62	0.85841	GPCR, family 3, C-terminal (2);	0.080498	0.52532	D	0.000070	D	0.89993	0.6876	L	0.29908	0.895	0.50632	D	0.999886	D	0.63880	0.993	D	0.67900	0.954	D	0.89966	0.4090	10	0.52906	T	0.07	.	12.94	0.58337	0.0:0.9259:0.0:0.0741	.	649	Q5T848	GP158_HUMAN	E	649	ENSP00000365529:A649E	ENSP00000365529:A649E	A	+	2	0	GPR158	25923280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.356000	0.59430	2.628000	0.89032	0.650000	0.86243	GCA		0.318	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		23	59	1	0	1.55469e-16	0.00333	2.86413e-16	23	59				
ARMC4	55130	broad.mit.edu	37	10	28149741	28149741	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:28149741G>C	ENST00000305242.5	-	19	2926	c.2834C>G	c.(2833-2835)gCt>gGt	p.A945G	ARMC4_ENST00000545014.1_Missense_Mutation_p.A470G|ARMC4_ENST00000537576.1_Missense_Mutation_p.A637G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	945					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGTGAAATAGCTTCTGCTAG	0.433																																							uc009xky.2		NA																	0				ovary(4)|skin(2)	6						c.(2833-2835)GCT>GGT		armadillo repeat containing 4							145.0	117.0	127.0					10																	28149741		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28149741G>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2834C>G	10.37:g.28149741G>C	ENSP00000306410:p.Ala945Gly					ARMC4_uc010qds.1_Missense_Mutation_p.A470G|ARMC4_uc010qdt.1_Missense_Mutation_p.A637G|ARMC4_uc001itz.2_Missense_Mutation_p.A945G	p.A945G	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			19	2932	-			945			ARM 8.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2834C>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289741	0.59976	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93859	-3.3;-3.3;-0.24	5.45	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.266794	0.41823	D	0.000801	D	0.97028	0.9029	M	0.90145	3.09	0.80722	D	1	D;P	0.89917	1.0;0.894	D;P	0.74674	0.984;0.85	D	0.97760	1.0220	10	0.87932	D	0	-11.7534	14.4367	0.67287	0.0714:0.0:0.9286:0.0	.	470;945	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	G	637;945;470	ENSP00000443208:A637G;ENSP00000306410:A945G;ENSP00000441076:A470G	ENSP00000306410:A945G	A	-	2	0	ARMC4	28189747	1.000000	0.71417	0.830000	0.32933	0.255000	0.26057	7.604000	0.82830	1.423000	0.47198	0.655000	0.94253	GCT		0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		10	48	0	0	0	0.006214	0	10	48				
KIAA1462	57608	broad.mit.edu	37	10	30336711	30336711	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:30336711G>T	ENST00000375377.1	-	2	132	c.31C>A	c.(31-33)Cat>Aat	p.H11N		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	11					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGTATCCATGAGAGATCAGG	0.592																																							uc001iux.2		NA																	0				ovary(4)	4						c.(31-33)CAT>AAT		hypothetical protein LOC57608							81.0	86.0	84.0					10																	30336711		2071	4197	6268	SO:0001583	missense	57608							g.chr10:30336711G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.31C>A	10.37:g.30336711G>T	ENSP00000364526:p.His11Asn					KIAA1462_uc001iuy.2_Missense_Mutation_p.H11N|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.H11N	p.H11N	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	90	-			11					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.31C>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549506	0.86127	.	.	ENSG00000165757	ENST00000375377	T	0.28255	1.62	5.3	5.3	0.74995	.	0.121562	0.52532	D	0.000079	T	0.55893	0.1949	M	0.69823	2.125	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.58411	-0.7641	10	0.87932	D	0	-24.7119	16.2304	0.82332	0.0:0.0:1.0:0.0	.	11	Q9P266	K1462_HUMAN	N	11	ENSP00000364526:H11N	ENSP00000364526:H11N	H	-	1	0	KIAA1462	30376717	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.288000	0.78691	2.645000	0.89757	0.467000	0.42956	CAT		0.592	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		13	89	1	0	0.000151284	0.001855	0.00018657	13	89				
FAM21C	253725	broad.mit.edu	37	10	46264993	46264993	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:46264993G>T	ENST00000336378.4	+	20	2078	c.1960G>T	c.(1960-1962)Gcc>Tcc	p.A654S	FAM21C_ENST00000374362.2_Missense_Mutation_p.A656S|FAM21C_ENST00000359860.4_Missense_Mutation_p.A598S|FAM21C_ENST00000540872.1_Missense_Mutation_p.A656S|FAM21C_ENST00000537517.1_Missense_Mutation_p.A632S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	654					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGCCAGGAGGCCAAGGCTGT	0.493																																							uc001jcu.2		NA																	0				ovary(1)	1						c.(1966-1968)GCC>TCC		hypothetical protein LOC253725							116.0	111.0	113.0					10																	46264993		1830	4083	5913	SO:0001583	missense	253725							g.chr10:46264993G>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1960G>T	10.37:g.46264993G>T	ENSP00000337541:p.Ala654Ser					FAM21C_uc001jcs.1_Missense_Mutation_p.A599S|FAM21C_uc001jct.2_Missense_Mutation_p.A654S|FAM21C_uc010qfi.1_Missense_Mutation_p.A632S|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	p.A656S	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			20	2065	+			656					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1966G>T		.	.	.	.	.	.	.	.	.	.	G	12.03	1.815905	0.32145	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.2	2.28	0.28536	.	0.516121	0.20573	N	0.089690	T	0.33265	0.0857	L	0.53249	1.67	0.09310	N	1	P;P;P;P	0.44044	0.787;0.726;0.726;0.825	P;B;B;P	0.46718	0.521;0.371;0.425;0.525	T	0.11203	-1.0597	9	0.14252	T	0.57	-1.6716	6.5884	0.22634	0.1399:0.0:0.8601:0.0	.	632;656;654;599	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	S	654;656;632;656;656;598;568	.	ENSP00000337541:A654S	A	+	1	0	FAM21C	45584999	0.009000	0.17119	0.025000	0.17156	0.969000	0.65631	1.471000	0.35365	0.674000	0.31244	0.478000	0.44815	GCC		0.493	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				41	100	1	0	1.57019e-19	0.007835	2.99541e-19	41	100				
CSTF2T	23283	broad.mit.edu	37	10	53458533	53458533	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:53458533C>G	ENST00000331173.4	-	1	822	c.777G>C	c.(775-777)caG>caC	p.Q259H	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	259					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GAATTCCACCCTGGATAGGAG	0.547																																							uc001jjp.2		NA																	0				ovary(1)	1						c.(775-777)CAG>CAC		cleavage stimulation factor, 3' pre-RNA, subunit							42.0	46.0	45.0					10																	53458533		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458533C>G	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.777G>C	10.37:g.53458533C>G	ENSP00000332444:p.Gln259His					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.Q259H	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	823	-			259					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.777G>C	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376901	0.42105	.	.	ENSG00000177613	ENST00000331173	T	0.24723	1.84	4.8	-0.167	0.13347	.	0.411788	0.26297	N	0.025189	T	0.31420	0.0796	L	0.43152	1.355	0.47994	D	0.999564	D	0.69078	0.997	D	0.65010	0.931	T	0.09552	-1.0669	10	0.16896	T	0.51	-4.0E-4	8.8332	0.35096	0.0:0.5753:0.0:0.4247	.	259	Q9H0L4	CSTFT_HUMAN	H	259	ENSP00000332444:Q259H	ENSP00000332444:Q259H	Q	-	3	2	CSTF2T	53128539	0.925000	0.31364	0.994000	0.49952	0.994000	0.84299	0.118000	0.15605	0.077000	0.16863	-0.136000	0.14681	CAG		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		4	34	0	0	0	0.000248	0	4	34				
PCDH15	65217	broad.mit.edu	37	10	55566610	55566610	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:55566610A>T	ENST00000373965.2	-	36	5178	c.4784T>A	c.(4783-4785)cTg>cAg	p.L1595Q	PCDH15_ENST00000414778.1_Missense_Mutation_p.L1592Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATGTGTTCAGAGGTACATT	0.468										HNSCC(58;0.16)																													uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4777-4779)CTG>CAG		protocadherin 15 isoform CD3-1 precursor							260.0	241.0	247.0					10																	55566610		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566610A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4784T>A	10.37:g.55566610A>T	ENSP00000363076:p.Leu1595Gln	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.L1588Q	p.L1593Q	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5173	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4778T>A		.	.	.	.	.	.	.	.	.	.	A	14.63	2.591645	0.46214	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.66815	-0.23;-0.2	5.71	5.71	0.89125	.	.	.	.	.	T	0.78947	0.4364	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.81217	-0.1033	9	0.87932	D	0	.	15.6507	0.77091	1.0:0.0:0.0:0.0	.	1586;1592	C6ZEF7;C9J4F3	.;.	Q	1595;1592;1588	ENSP00000363076:L1595Q;ENSP00000410304:L1592Q	ENSP00000363076:L1595Q	L	-	2	0	PCDH15	55236616	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.959000	0.70339	2.180000	0.69256	0.533000	0.62120	CTG		0.468	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		12	235	0	0	0	0.001855	0	12	235				
FAM13C	220965	broad.mit.edu	37	10	61083748	61083748	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:61083748C>A	ENST00000373868.2	-	4	530	c.443G>T	c.(442-444)aGa>aTa	p.R148I	FAM13C_ENST00000373867.3_Splice_Site_p.R65I|FAM13C_ENST00000435852.2_Splice_Site_p.R148I|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000422313.2_Splice_Site_p.R148I|FAM13C_ENST00000277705.6_Splice_Site_p.R148I|FAM13C_ENST00000442566.3_Splice_Site_p.R148I|FAM13C_ENST00000468840.2_Splice_Site_p.R65I|FAM13C_ENST00000419214.2_Splice_Site_p.R148I	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	148										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAGGGCCCACCTTGGTTGAAG	0.498																																							uc001jkn.2		NA																	0				ovary(2)	2						c.(442-444)AGA>ATA		hypothetical protein LOC220965 isoform 1							300.0	256.0	271.0					10																	61083748		2203	4300	6503	SO:0001630	splice_region_variant	220965							g.chr10:61083748C>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.443+1G>T	10.37:g.61083748C>A						FAM13C_uc001jko.2_Missense_Mutation_p.R148I|FAM13C_uc010qid.1_Missense_Mutation_p.R65I|FAM13C_uc010qie.1_Missense_Mutation_p.R65I|FAM13C_uc010qif.1_Missense_Mutation_p.R170I|FAM13C_uc001jkp.2_Missense_Mutation_p.R65I	p.R148I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			5	577	-			148					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.443G>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707720	0.89018	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.79454	0.54;-1.27;-1.27;0.47;0.54;0.54	5.96	5.96	0.96718	.	0.091536	0.45126	D	0.000388	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999998	D;D;D;P;D	0.67145	0.989;0.963;0.996;0.835;0.979	P;P;P;P;P	0.58873	0.847;0.696;0.847;0.607;0.79	T	0.82360	-0.0496	9	.	.	.	-8.0076	15.9193	0.79547	0.0:1.0:0.0:0.0	.	148;65;148;148;148	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	I	65;148;148;148;148;65;148;148	ENSP00000362975:R148I;ENSP00000395661:R148I;ENSP00000277705:R148I;ENSP00000391993:R148I;ENSP00000392302:R148I;ENSP00000400241:R148I	.	R	-	2	0	FAM13C	60753754	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.963000	0.56773	2.831000	0.97527	0.650000	0.86243	AGA		0.498	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		Missense_Mutation	9	134	1	0	2.17888e-05	0.006214	2.81911e-05	9	134				
HKDC1	80201	broad.mit.edu	37	10	71000429	71000429	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:71000429G>T	ENST00000354624.5	+	6	746	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	HKDC1_ENST00000395086.2_Missense_Mutation_p.A205S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	205	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGACATCCTGGCCCTGGTCAA	0.572																																							uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(613-615)GCC>TCC		hexokinase domain containing 1							187.0	132.0	151.0					10																	71000429		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71000429G>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.613G>T	10.37:g.71000429G>T	ENSP00000346643:p.Ala205Ser					HKDC1_uc010qje.1_Missense_Mutation_p.A68S	p.A205S	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			6	746	+			205					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.613G>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594931	0.86953	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99113	-5.44;-5.44	4.49	3.58	0.41010	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	M	0.93150	3.385	0.80722	D	1	B	0.18310	0.027	B	0.40165	0.321	D	0.99955	1.1620	10	0.87932	D	0	-20.7874	12.9783	0.58549	0.079:0.0:0.921:0.0	.	205	Q2TB90	HKDC1_HUMAN	S	205	ENSP00000346643:A205S;ENSP00000378521:A205S	ENSP00000346643:A205S	A	+	1	0	HKDC1	70670435	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.552000	0.67281	1.238000	0.43771	0.491000	0.48974	GCC		0.572	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		18	34	1	0	1.9806e-07	0.002299	2.84182e-07	18	34				
COL13A1	1305	broad.mit.edu	37	10	71678040	71678040	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:71678040G>T	ENST00000398978.3	+	19	1488		c.e19-1		COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398969.3_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000398972.3_Splice_Site|COL13A1_ENST00000398968.3_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398973.3_Splice_Site|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000356340.3_Splice_Site	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTCTCTGCCAGGGGGCGCCCG	0.602																																							uc001jpr.1		NA																	0				ovary(1)	1						c.e18-1		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						40.0	42.0	42.0					10																	71678040		1864	4097	5961	SO:0001630	splice_region_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71678040G>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.997-1G>T	10.37:g.71678040G>T						COL13A1_uc001jqj.1_Splice_Site_p.G333_splice|COL13A1_uc001jps.1_Splice_Site_p.G304_splice|COL13A1_uc001jpt.1_Splice_Site_p.G292_splice|COL13A1_uc001jpu.1_Splice_Site_p.G314_splice|COL13A1_uc001jpv.1_Splice_Site_p.G333_splice|COL13A1_uc001jpx.1_Splice_Site_p.G311_splice|COL13A1_uc001jpw.1_Splice_Site_p.G280_splice|COL13A1_uc001jpy.1_Splice_Site_p.G271_splice|COL13A1_uc001jpz.1_Splice_Site_p.G276_splice|COL13A1_uc001jqa.1_Splice_Site_p.G273_splice|COL13A1_uc001jqc.1_Splice_Site_p.G333_splice|COL13A1_uc001jqb.1_Splice_Site_p.G282_splice|COL13A1_uc001jql.2_Splice_Site_p.G333_splice|COL13A1_uc001jqd.1_Splice_Site_p.G321_splice|COL13A1_uc001jqe.1_Splice_Site_p.G316_splice|COL13A1_uc001jqf.1_Splice_Site_p.G314_splice|COL13A1_uc001jqg.1_Splice_Site_p.G311_splice|COL13A1_uc001jqh.1_Splice_Site_p.G333_splice|COL13A1_uc001jqi.1_Splice_Site_p.G333_splice|COL13A1_uc010qjf.1_Splice_Site_p.G123_splice|COL13A1_uc001jqk.1_Splice_Site_p.G171_splice	p.G333_splice	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			18	1533	+									Splice_Site	SNP	ENST00000398978.3	37	c.997_splice	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797388	0.31777	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3354	0.83059	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL13A1	71348046	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	5.572000	0.67411	2.613000	0.88420	0.655000	0.94253	.		0.602	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	Intron	13	30	1	0	7.03913e-09	0.001368	1.07427e-08	13	30				
CDHR1	92211	broad.mit.edu	37	10	85974034	85974034	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:85974034C>G	ENST00000372117.3	+	17	2340	c.2237C>G	c.(2236-2238)cCt>cGt	p.P746R	CDHR1_ENST00000440770.2_Missense_Mutation_p.P450R|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	746					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CGGCCCAGCCCTGCGCCCCGC	0.582																																							uc001kcv.2		NA																	0				ovary(1)	1						c.(2236-2238)CCT>CGT		protocadherin 21 precursor							49.0	49.0	49.0					10																	85974034		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974034C>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2237C>G	10.37:g.85974034C>G	ENSP00000361189:p.Pro746Arg					CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.P450R|CDHR1_uc001kcx.2_Missense_Mutation_p.P60R	p.P746R	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2237	+			746			Cytoplasmic (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2237C>G	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	8.815	0.936097	0.18206	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56611	0.6;0.45	5.53	5.53	0.82687	.	0.481200	0.24828	N	0.035272	T	0.54111	0.1838	M	0.65975	2.015	0.32511	N	0.537544	P;P	0.50272	0.933;0.722	P;B	0.48030	0.564;0.215	T	0.59392	-0.7463	10	0.13108	T	0.6	-12.7194	11.8414	0.52357	0.2806:0.7194:0.0:0.0	.	450;746	E7EN47;Q96JP9	.;CDHR1_HUMAN	R	746;450	ENSP00000361189:P746R;ENSP00000415980:P450R	ENSP00000361189:P746R	P	+	2	0	CDHR1	85964014	0.909000	0.30893	0.166000	0.22797	0.009000	0.06853	2.491000	0.45303	2.596000	0.87737	0.561000	0.74099	CCT		0.582	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		20	34	0	0	0	0.001216	0	20	34				
LIPF	8513	broad.mit.edu	37	10	90427435	90427435	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:90427435G>T	ENST00000238983.4	+	3	261	c.215G>T	c.(214-216)gGg>gTg	p.G72V	LIPF_ENST00000394375.3_Missense_Mutation_p.G82V|LIPF_ENST00000355843.2_Missense_Mutation_p.G82V|LIPF_ENST00000608620.1_Missense_Mutation_p.G72V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	72					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AAAAATTCAGGGAATACAGGT	0.348																																							uc001kfg.1		NA																	0					0						c.(214-216)GGG>GTG		lipase, gastric precursor							73.0	88.0	83.0					10																	90427435		2203	4295	6498	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90427435G>T	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.215G>T	10.37:g.90427435G>T	ENSP00000238983:p.Gly72Val					LIPF_uc009xtk.2_Missense_Mutation_p.G72V|LIPF_uc001kfh.1_Missense_Mutation_p.G82V|LIPF_uc010qmt.1_Missense_Mutation_p.G82V|LIPF_uc010qmu.1_Missense_Mutation_p.G72V	p.G72V	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	3	381	+		Colorectal(252;0.0161)	72					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.215G>T	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	6.089	0.384766	0.11524	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;T	0.85702	-2.02;-2.02;-0.58	4.37	-5.94	0.02247	Partial AB-hydrolase lipase domain (1);	0.587596	0.15523	N	0.257913	T	0.71151	0.3306	N	0.21324	0.655	0.18873	N	0.999981	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001	B;B;B;B;B	0.15484	0.013;0.003;0.008;0.013;0.003	T	0.52726	-0.8537	10	0.31617	T	0.26	0.0159	13.5926	0.61969	0.4154:0.0:0.5846:0.0	.	72;82;82;82;72	Q5VXI8;F5H1P4;B7Z723;Q658L8;P07098	.;.;.;.;LIPG_HUMAN	V	82;72;72	ENSP00000377900:G82V;ENSP00000238983:G72V;ENSP00000348101:G72V	ENSP00000238983:G72V	G	+	2	0	LIPF	90417415	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.473000	0.06615	-0.883000	0.03982	-1.223000	0.01593	GGG		0.348	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			25	87	1	0	1.17739e-12	0.005443	2.00665e-12	25	87				
SLC16A12	387700	broad.mit.edu	37	10	91198926	91198926	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:91198926G>C	ENST00000341233.4	-	6	763	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L155V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GAGTAACAAAGTGCAAATCCA	0.418																																							uc001kgm.2		NA																	0				skin(1)	1						c.(373-375)CTT>GTT		solute carrier family 16 (monocarboxylic acid							59.0	60.0	60.0					10																	91198926		2201	4298	6499	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198926G>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.373C>G	10.37:g.91198926G>C	ENSP00000343022:p.Leu125Val					SLC16A12_uc001kgl.2_5'Flank	p.L125V	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN			6	764	-			125			Helical; (Potential).		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.373C>G		.	.	.	.	.	.	.	.	.	.	G	25.5	4.646027	0.87958	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.37915	1.17;1.17	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72551	-0.4259	10	0.72032	D	0.01	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	125	Q6ZSM3	MOT12_HUMAN	V	125;155	ENSP00000343022:L125V;ENSP00000360855:L155V	ENSP00000343022:L125V	L	-	1	0	SLC16A12	91188906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	CTT		0.418	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		3	58	0	0	0	0.004672	0	3	58				
IDE	3416	broad.mit.edu	37	10	94228661	94228661	+	Silent	SNP	C	C	A	rs373755533		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:94228661C>A	ENST00000265986.6	-	19	2351	c.2295G>T	c.(2293-2295)cgG>cgT	p.R765R	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Silent_p.R210R	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	765					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CTTCTCTATACCGAACCAGCT	0.428																																							uc001kia.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2293-2295)CGG>CGT		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	,	0,4406		0,0,2203	112.0	100.0	104.0		630,2295	-3.1	1.0	10		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IDE	NM_001165946.1,NM_004969.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	210/465,765/1020	94228661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94228661C>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2295G>T	10.37:g.94228661C>A						IDE_uc010qnp.1_Silent_p.R210R|IDE_uc001khz.2_Silent_p.R210R	p.R765R	NM_004969	NP_004960	P14735	IDE_HUMAN			19	2371	-			765					B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	c.2295G>T	CCDS7421.1																																																																																				0.428	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		3	33	1	0	2.56e-06	0.000248	3.49044e-06	3	33				
ABCC2	1244	broad.mit.edu	37	10	101560265	101560265	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:101560265G>T	ENST00000370449.4	+	9	1267	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	385	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCCAACTGTGCTTCAAGCTG	0.433																																							uc001kqf.2		NA																	0				ovary(1)	1						c.(1153-1155)TGC>TTC		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						269.0	235.0	246.0					10																	101560265		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560265G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1154G>T	10.37:g.101560265G>T	ENSP00000359478:p.Cys385Phe						p.C385F	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1293	+		Colorectal(252;0.234)	385			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1154G>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308069	0.60305	.	.	ENSG00000023839	ENST00000370449	D	0.88975	-2.45	5.8	5.8	0.92144	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.95451	0.8534	10	0.72032	D	0.01	-15.367	20.042	0.97594	0.0:0.0:1.0:0.0	.	385	Q92887	MRP2_HUMAN	F	385	ENSP00000359478:C385F	ENSP00000359478:C385F	C	+	2	0	ABCC2	101550255	1.000000	0.71417	0.972000	0.41901	0.016000	0.09150	9.844000	0.99494	2.741000	0.93983	0.561000	0.74099	TGC		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		9	146	1	0	3.09899e-07	0.004482	4.40883e-07	9	146				
SORCS1	114815	broad.mit.edu	37	10	108923926	108923926	+	Missense_Mutation	SNP	C	C	A	rs370680841		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:108923926C>A	ENST00000263054.6	-	1	366	c.359G>T	c.(358-360)cGg>cTg	p.R120L	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120					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)		GCCCTCTCCCCGTTCTGCCTT	0.701																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(358-360)CGG>CTG		SORCS receptor 1 isoform a							38.0	38.0	38.0					10																	108923926		2203	4299	6502	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923926C>A	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.359G>T	10.37:g.108923926C>A	ENSP00000263054:p.Arg120Leu					SORCS1_uc001kyl.2_Missense_Mutation_p.R120L|SORCS1_uc009xxs.2_Missense_Mutation_p.R120L|SORCS1_uc001kyn.1_Missense_Mutation_p.R120L|SORCS1_uc001kyo.2_Missense_Mutation_p.R120L	p.R120L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	367	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	120			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.359G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	0.178	-1.065081	0.01934	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.18338	2.22;2.23	4.43	-6.23	0.02052	.	1.058870	0.07503	N	0.907533	T	0.04182	0.0116	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.34875	-0.9811	9	.	.	.	2.9447	1.1067	0.01695	0.2145:0.2311:0.3314:0.223	.	120;120;120;120;120	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	120	ENSP00000263054:R120L;ENSP00000345964:R120L	.	R	-	2	0	SORCS1	108913916	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.010000	0.13242	-1.825000	0.01207	-2.068000	0.00393	CGG		0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	28	1	0	0.000157383	0.00308	0.000191976	8	28				
NRAP	4892	broad.mit.edu	37	10	115364431	115364431	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:115364431G>T	ENST00000359988.3	-	35	4408	c.4164C>A	c.(4162-4164)ttC>ttA	p.F1388L	NRAP_ENST00000360478.3_Missense_Mutation_p.F1353L|NRAP_ENST00000369358.4_Missense_Mutation_p.F1396L|NRAP_ENST00000369360.3_Missense_Mutation_p.F1361L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCAGTGCTGTGAACTTGTGAT	0.597																																							uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4162-4164)TTC>TTA		nebulin-related anchoring protein isoform S							128.0	120.0	123.0					10																	115364431		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364431G>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4164C>A	10.37:g.115364431G>T	ENSP00000353078:p.Phe1388Leu					NRAP_uc009xyb.2_Missense_Mutation_p.F177L|NRAP_uc001lak.2_Missense_Mutation_p.F1353L|NRAP_uc001lal.3_Missense_Mutation_p.F1388L	p.F1388L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4328	-		Colorectal(252;0.0233)|Breast(234;0.188)	1388			Nebulin 36.			Missense_Mutation	SNP	ENST00000359988.3	37	c.4164C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720696	0.30503	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.54	4.45	0.53987	.	0.054750	0.85682	D	0.000000	T	0.45478	0.1344	L	0.51422	1.61	0.36820	D	0.886327	P;P;P;P	0.42161	0.772;0.74;0.548;0.603	P;P;P;P	0.48738	0.542;0.588;0.452;0.588	T	0.54549	-0.8277	10	0.66056	D	0.02	.	9.9539	0.41655	0.1547:0.0:0.8453:0.0	.	546;1388;1353;1388	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	1396;1361;1388;1353;546	ENSP00000358365:F1396L;ENSP00000358367:F1361L;ENSP00000353078:F1388L;ENSP00000353666:F1353L	ENSP00000353078:F1388L	F	-	3	2	NRAP	115354421	1.000000	0.71417	0.996000	0.52242	0.115000	0.19883	4.299000	0.59073	2.622000	0.88805	0.555000	0.69702	TTC		0.597	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		15	41	1	0	1.49906e-05	0.00245	1.9584e-05	15	41				
ATRNL1	26033	broad.mit.edu	37	10	117024743	117024743	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:117024743A>G	ENST00000355044.3	+	11	1887	c.1761A>G	c.(1759-1761)gtA>gtG	p.V587V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	587					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)		ACTCTGCAGTAGTCATTAACG	0.318																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1759-1761)GTA>GTG		attractin-like 1 precursor							110.0	115.0	114.0					10																	117024743		2203	4298	6501	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117024743A>G	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.1761A>G	10.37:g.117024743A>G							p.V587V	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)	11	2147	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	587			Kelch 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.1761A>G	CCDS7592.1																																																																																				0.318	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	125	0	0	0	0.001984	0	7	125				
CACUL1	143384	broad.mit.edu	37	10	120450853	120450853	+	Missense_Mutation	SNP	C	C	A	rs377310953		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:120450853C>A	ENST00000369151.3	-	7	1432	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	317					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TCAGATTCCACCGCCGGAGGG	0.358																																							uc001lds.1		NA																	0					0						c.(949-951)GTG>TTG		chromosome 10 open reading frame 46							142.0	146.0	145.0					10																	120450853		1806	4075	5881	SO:0001583	missense	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120450853C>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.949G>T	10.37:g.120450853C>A	ENSP00000358147:p.Val317Leu					C10orf46_uc010qst.1_RNA	p.V317L	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	7	1433	-		Lung NSC(174;0.142)|all_lung(145;0.175)	317					Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	c.949G>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861222	0.32884	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	T	0.69175	-0.38	5.97	0.948	0.19561	.	0.346122	0.30118	N	0.010369	T	0.36441	0.0967	N	0.11560	0.145	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31724	-0.9933	10	0.02654	T	1	-17.6643	7.4275	0.27107	0.0:0.6459:0.1101:0.244	.	317	Q86Y37	CJ046_HUMAN	L	128;194;317	ENSP00000358147:V317L	ENSP00000358147:V317L	V	-	1	0	C10orf46	120440843	0.038000	0.19896	0.529000	0.27951	0.950000	0.60333	0.355000	0.20163	0.133000	0.18654	-0.225000	0.12378	GTG		0.358	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		46	132	1	0	1.47857e-17	0.00361	2.75795e-17	46	132				
MKI67	4288	broad.mit.edu	37	10	129904768	129904768	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:129904768C>A	ENST00000368654.3	-	13	5711	c.5336G>T	c.(5335-5337)gGc>gTc	p.G1779V	MKI67_ENST00000368653.3_Missense_Mutation_p.G1419V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1779	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)				CATGGCTTTGCCTGCTGATGG	0.473																																							uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5335-5337)GGC>GTC		antigen identified by monoclonal antibody Ki-67							198.0	183.0	188.0					10																	129904768		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904768C>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.5336G>T	10.37:g.129904768C>A	ENSP00000357643:p.Gly1779Val					MKI67_uc001lkf.2_Missense_Mutation_p.G1419V|MKI67_uc009yav.1_Missense_Mutation_p.G1354V|MKI67_uc009yaw.1_Missense_Mutation_p.G929V	p.G1779V	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5531	-		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)	1779			7.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5336G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.234	0.411384	0.11812	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04275	3.66;3.66	3.12	-2.62	0.06152	.	1.071590	0.07306	N	0.874991	T	0.11239	0.0274	L	0.59436	1.845	0.09310	N	0.999996	B;D;D	0.69078	0.116;0.996;0.997	B;D;D	0.70016	0.051;0.923;0.967	T	0.19976	-1.0289	10	0.27785	T	0.31	.	1.8235	0.03116	0.1324:0.341:0.1306:0.3961	.	1778;1419;1779	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	1779;1419;1778	ENSP00000357643:G1779V;ENSP00000357642:G1419V	ENSP00000357642:G1419V	G	-	2	0	MKI67	129794758	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.684000	0.05173	-0.884000	0.03976	-1.119000	0.02030	GGC		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		50	96	1	0	1.30916e-28	0.00361	2.59706e-28	50	96				
BNIP3	664	broad.mit.edu	37	10	133786581	133786581	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:133786581G>C	ENST00000368636.4	-	3	363	c.239C>G	c.(238-240)tCt>tGt	p.S80C	BNIP3_ENST00000540159.1_Missense_Mutation_p.S80C	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	80					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCTGTTTCAGAAGCTCTGTT	0.423																																							uc001lkv.1		NA																	0				lung(1)|skin(1)	2						c.(238-240)TCT>TGT		BCL2/adenovirus E1B 19kD-interacting protein 3							230.0	215.0	220.0					10																	133786581		2203	4300	6503	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133786581G>C	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.239C>G	10.37:g.133786581G>C	ENSP00000357625:p.Ser80Cys					BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.S80C	p.S80C	NM_004052	NP_004043	Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	3	365	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	80					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.239C>G	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	G	9.222	1.033687	0.19590	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.19	3.28	0.37604	.	0.302307	0.33515	N	0.004821	T	0.37865	0.1019	L	0.35341	1.055	0.19945	N	0.999948	D	0.59767	0.986	P	0.59948	0.866	T	0.08066	-1.0740	9	0.36615	T	0.2	-2.2087	6.0097	0.19569	0.1902:0.1596:0.6502:0.0	.	80	Q12983	BNIP3_HUMAN	C	80	.	ENSP00000357625:S80C	S	-	2	0	BNIP3	133636571	0.374000	0.25081	0.047000	0.18901	0.261000	0.26267	2.522000	0.45572	1.073000	0.40885	0.655000	0.94253	TCT		0.423	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			6	171	0	0	0	0.001984	0	6	171				
MTG1	92170	broad.mit.edu	37	10	135213068	135213068	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:135213068C>G	ENST00000317502.6	+	6	506	c.456C>G	c.(454-456)ccC>ccG	p.P152P	RP11-108K14.8_ENST00000468317.2_Silent_p.P157P|MTG1_ENST00000477902.2_Silent_p.P111P	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	152	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TTGGGGTCCCCAACGTGGGCA	0.622																																							uc001lnd.2		NA																	0				skin(1)	1						c.(454-456)CCC>CCG		GTP_binding protein precursor							129.0	114.0	119.0					10																	135213068		2203	4300	6503	SO:0001819	synonymous_variant	92170					mitochondrion	GTP binding|protein binding	g.chr10:135213068C>G		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.456C>G	10.37:g.135213068C>G						MTG1_uc010qve.1_Intron	p.P152P	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	6	560	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	152					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	c.456C>G	CCDS31320.1																																																																																				0.622	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		15	50	0	0	0	0.003163	0	15	50				
MUC2	4583	broad.mit.edu	37	11	1087978	1087978	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:1087978C>T	ENST00000441003.2	+	25	3480	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	MUC2_ENST00000359061.5_Silent_p.I1151I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1151					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCAACGGCATCCACTCCAACA	0.627																																							uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(3451-3453)ATC>ATT		mucin 2 precursor	Pranlukast(DB01411)						53.0	58.0	56.0					11																	1087978		2135	4239	6374	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087978C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3453C>T	11.37:g.1087978C>T							p.I1151I	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3480	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1151					Q14878	Silent	SNP	ENST00000441003.2	37	c.3453C>T																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	12	0	0	0	0.000248	0	3	12				
MUC5B	727897	broad.mit.edu	37	11	1272524	1272524	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:1272524C>G	ENST00000529681.1	+	31	14472	c.14414C>G	c.(14413-14415)tCc>tGc	p.S4805C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4808C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4805	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)		GCCACCAATTCCACGGCCACA	0.602																																							uc009ycr.1		NA																	0					0						c.(15379-15381)TCC>TGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							126.0	162.0	150.0					11																	1272524		2178	4259	6437	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272524C>G	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.14414C>G	11.37:g.1272524C>G	ENSP00000436812:p.Ser4805Cys					MUC5B_uc001ltb.2_Missense_Mutation_p.S4808C	p.S5127C	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)	52	15506	+		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)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15380C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.845	-0.239609	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.34	2.07	-0.667	0.11395	.	.	.	.	.	T	0.26484	0.0647	M	0.75264	2.295	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.46389	0.515;0.515	T	0.16070	-1.0415	9	0.87932	D	0	.	6.7692	0.23585	0.1976:0.6097:0.1927:0.0	.	5127;4808	A7Y9J9;E9PBJ0	.;.	C	4805;4808;4749;4504	ENSP00000436812:S4805C;ENSP00000415793:S4808C	ENSP00000343037:S4749C	S	+	2	0	MUC5B	1229100	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.335000	0.19806	-0.360000	0.08138	0.194000	0.17425	TCC		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	92	0	0	0	0.000978	0	10	92				
TSPAN32	10077	broad.mit.edu	37	11	2337814	2337814	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:2337814C>T	ENST00000182290.4	+	8	773	c.636C>T	c.(634-636)gcC>gcT	p.A212A	TSPAN32_ENST00000451520.2_Silent_p.A201A|TSPAN32_ENST00000381121.3_Silent_p.A212A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	212					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGTGTCCGCCTTGCTCTTCA	0.677																																							uc001lvy.1		NA																	0				central_nervous_system(1)	1						c.(634-636)GCC>GCT		tumor-suppressing subtransferable candidate 6							119.0	92.0	101.0					11																	2337814		2202	4299	6501	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2337814C>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.636C>T	11.37:g.2337814C>T						TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_Intron|TSPAN32_uc001lvz.1_Silent_p.A182A|TSPAN32_uc001lwb.1_Silent_p.A182A|TSPAN32_uc001lwc.1_Silent_p.A157A|TSPAN32_uc001lwd.1_Silent_p.A144A	p.A212A	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	773	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	212			Helical; (Potential).		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.636C>T	CCDS7733.1																																																																																				0.677	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		12	37	0	0	0	0.000978	0	12	37				
RHOG	391	broad.mit.edu	37	11	3849149	3849149	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:3849149G>C	ENST00000351018.4	-	2	377	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	RHOG_ENST00000396978.1_Missense_Mutation_p.Q74E|RHOG_ENST00000533217.1_Missense_Mutation_p.Q74E|RHOG_ENST00000396979.1_Missense_Mutation_p.Q74E	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	74					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACGTTGGTCTGAGGGTAGGAG	0.602																																							uc001lyu.2		NA																	0					0						c.(220-222)CAG>GAG		ras homolog gene family, member G precursor							87.0	71.0	77.0					11																	3849149		2201	4298	6499	SO:0001583	missense	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849149G>C	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.220C>G	11.37:g.3849149G>C	ENSP00000339467:p.Gln74Glu						p.Q74E	NM_001665	NP_001656	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	378	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	74					P35238|Q8NI04	Missense_Mutation	SNP	ENST00000351018.4	37	c.220C>G	CCDS7748.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786404	0.70337	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	L	0.52823	1.66	0.58432	D	0.999997	P	0.40875	0.731	P	0.55455	0.776	T	0.82857	-0.0250	10	0.87932	D	0	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	74	P84095	RHOG_HUMAN	E	74	ENSP00000339467:Q74E;ENSP00000380176:Q74E;ENSP00000380175:Q74E;ENSP00000436932:Q74E	ENSP00000339467:Q74E	Q	-	1	0	RHOG	3805725	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.876000	0.87215	2.724000	0.93272	0.563000	0.77884	CAG		0.602	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		4	59	0	0	0	0.001984	0	4	59				
OR51G1	79324	broad.mit.edu	37	11	4945465	4945465	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:4945465G>A	ENST00000321961.2	-	1	172	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	35						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(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGGTAGATGAAGCAGAAGG	0.478																																							uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(103-105)TTC>TTT		olfactory receptor, family 51, subfamily G,							97.0	78.0	85.0					11																	4945465		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945465G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.105C>T	11.37:g.4945465G>A							p.F35F	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	105	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	35			Helical; Name=1; (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.105C>T	CCDS31366.1																																																																																				0.478	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		4	53	0	0	0	0.000602	0	4	53				
OR51L1	119682	broad.mit.edu	37	11	5020306	5020306	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5020306C>A	ENST00000321543.1	+	1	94	c.94C>A	c.(94-96)Ctc>Atc	p.L32I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	32						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTCCATCCTCTTCTGTCT	0.428																																							uc010qyu.1		NA																	0				skin(1)	1						c.(94-96)CTC>ATC		olfactory receptor, family 51, subfamily L,							247.0	224.0	232.0					11																	5020306		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020306C>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.94C>A	11.37:g.5020306C>A	ENSP00000322156:p.Leu32Ile						p.L32I	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	94	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	32			Helical; Name=1; (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.94C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588646	0.28357	.	.	ENSG00000176798	ENST00000321543	T	0.16457	2.34	5.58	5.58	0.84498	.	0.331008	0.21912	N	0.067288	T	0.17577	0.0422	L	0.33792	1.035	0.30879	N	0.731615	B	0.31153	0.31	B	0.31686	0.134	T	0.05616	-1.0874	10	0.62326	D	0.03	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	32	Q8NGJ5	O51L1_HUMAN	I	32	ENSP00000322156:L32I	ENSP00000322156:L32I	L	+	1	0	OR51L1	4976882	0.008000	0.16893	0.665000	0.29768	0.020000	0.10135	2.005000	0.40864	2.906000	0.99361	0.655000	0.94253	CTC		0.428	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		51	137	1	0	1.33152e-38	0.00361	2.68101e-38	51	137				
OR52A4	390053	broad.mit.edu	37	11	5142343	5142343	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5142343G>T	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							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(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAATGGCAGGCCGCAATGTC	0.463																																							uc001lzz.1		NA																	0				ovary(2)	2						c.(466-468)CCT>ACT		olfactory receptor, family 52, subfamily A,							76.0	69.0	71.0					11																	5142343		2201	4298	6499			390053							g.chr11:5142343G>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142343G>T							p.P156T	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	466	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.466C>A		.	.	.	.	.	.	.	.	.	.	G	4.087	0.014104	0.07959	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24699	0.0599	.	.	.	0.23743	N	0.996963	B	0.18166	0.026	B	0.25987	0.065	T	0.32134	-0.9918	6	0.46703	T	0.11	.	1.5911	0.02654	0.1619:0.2372:0.3597:0.2411	.	156	A6NMU1	O52A4_HUMAN	T	156	.	ENSP00000369727:P156T	P	-	1	0	OR52A4	5098919	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-1.310000	0.02725	-0.458000	0.07023	0.650000	0.86243	CCT		0.463	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		15	50	1	0	1.37285e-15	0.004007	2.4715e-15	15	50				
OR52A5	390054	broad.mit.edu	37	11	5152990	5152990	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5152990A>G	ENST00000307388.1	-	1	882	c.883T>C	c.(883-885)Tat>Cat	p.Y295H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	295					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCACTCCATAGACAATAGGG	0.373																																							uc010qyx.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(883-885)TAT>CAT		olfactory receptor, family 52, subfamily A,							131.0	126.0	128.0					11																	5152990		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5152990A>G	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.883T>C	11.37:g.5152990A>G	ENSP00000303469:p.Tyr295His						p.Y295H	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	883	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	295			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.883T>C	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415578	0.62511	.	.	ENSG00000171944	ENST00000307388	T	0.61859	0.07	4.85	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000980	D	0.83936	0.5362	H	0.99565	4.63	0.41829	D	0.990067	D	0.89917	1.0	D	0.91635	0.999	D	0.85623	0.1265	10	0.87932	D	0	.	8.6262	0.33890	0.8353:0.0:0.1647:0.0	.	295	Q9H2C5	O52A5_HUMAN	H	295	ENSP00000303469:Y295H	ENSP00000303469:Y295H	Y	-	1	0	OR52A5	5109566	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	5.620000	0.67736	0.862000	0.35528	0.533000	0.62120	TAT		0.373	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		15	40	0	0	0	0.004007	0	15	40				
OR51I1	390063	broad.mit.edu	37	11	5462541	5462541	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5462541G>T	ENST00000380211.1	-	1	203	c.204C>A	c.(202-204)ctC>ctA	p.L68L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	68					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)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGAGAGCGAGCATAGAGA	0.468																																							uc010qze.1		NA																	0				ovary(1)	1						c.(202-204)CTC>CTA		olfactory receptor, family 51, subfamily I,							137.0	128.0	131.0					11																	5462541		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462541G>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.204C>A	11.37:g.5462541G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L68L	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	204	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	68			Helical; Name=2; (Potential).		B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.204C>A	CCDS31382.1																																																																																				0.468	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		11	53	1	0	1.58986e-06	0.008291	2.20122e-06	11	53				
OR56A3	390083	broad.mit.edu	37	11	5969313	5969313	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5969313G>T	ENST00000329564.6	+	1	744	c.737G>T	c.(736-738)gGc>gTc	p.G246V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACATGTGGCTCCCACTTC	0.517																																							uc010qzt.1		NA																	0					0						c.(736-738)GGC>GTC		olfactory receptor, family 56, subfamily A,							241.0	231.0	234.0					11																	5969313		2192	4295	6487	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969313G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.737G>T	11.37:g.5969313G>T	ENSP00000331572:p.Gly246Val						p.G246V	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	737	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	246			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.737G>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441779	0.25900	.	.	ENSG00000184478	ENST00000329564	T	0.35421	1.31	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.40145	0.1105	L	0.53617	1.68	0.51233	D	0.999916	B	0.26041	0.14	B	0.39771	0.309	T	0.35699	-0.9778	10	0.49607	T	0.09	-27.5897	8.8462	0.35172	0.0:0.1607:0.6728:0.1665	.	246	Q8NH54	O56A3_HUMAN	V	246	ENSP00000331572:G246V	ENSP00000331572:G246V	G	+	2	0	OR56A3	5925889	0.000000	0.05858	1.000000	0.80357	0.811000	0.45836	-0.038000	0.12144	2.687000	0.91594	0.650000	0.86243	GGC		0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		49	148	1	0	6.14515e-18	0.00361	1.15587e-17	49	148				
Unknown	0	broad.mit.edu	37	11	5989001	5989001	+	IGR	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5989001C>A								OR56A3 (19410 upstream) : OR52L1 (18120 downstream)																							CCACAAGTACCTAGAGCTTTG	0.473																																							uc010qzu.1		NA																	0					0						c.(724-726)GGT>TGT		olfactory receptor, family 56, subfamily A,							189.0	175.0	179.0					11																	5989001		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989001C>A																													11.37:g.5989001C>A							p.G242C	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	724	-			242			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.724G>T																																																																																				0	0.473									7	17	1	0	0.00198382	0.001984	0.00231877	7	17				
OR56B4	196335	broad.mit.edu	37	11	6129206	6129206	+	Nonsense_Mutation	SNP	C	C	A	rs368988213		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6129206C>A	ENST00000316529.3	+	1	293	c.198C>A	c.(196-198)taC>taA	p.Y66*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	66						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(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCCATGTACCATTTGCTGG	0.517																																							uc010qzx.1		NA																	0				central_nervous_system(1)	1						c.(196-198)TAC>TAA		olfactory receptor, family 56, subfamily B,		C	stop/TYR	0,4402		0,0,2201	100.0	86.0	91.0		198	-5.8	0.0	11		91	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained	OR56B4	NM_001005181.1		0,1,6496	AA,AC,CC		0.0116,0.0,0.0077		66/320	6129206	1,12993	2201	4296	6497	SO:0001587	stop_gained	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129206C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.198C>A	11.37:g.6129206C>A	ENSP00000321196:p.Tyr66*						p.Y66*	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	198	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	66			Helical; Name=2; (Potential).		Q6IFD7	Nonsense_Mutation	SNP	ENST00000316529.3	37	c.198C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	8.250	0.808840	0.16467	0.0	1.16E-4	ENSG00000180919	ENST00000316529	.	.	.	4.2	-5.78	0.02362	.	0.568973	0.13192	U	0.406681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7737	0.51972	0.0:0.4443:0.0:0.5557	.	.	.	.	X	66	.	ENSP00000321196:Y66X	Y	+	3	2	OR56B4	6085782	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-1.146000	0.03191	-1.474000	0.01879	-0.739000	0.03532	TAC		0.517	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		18	29	1	0	3.52763e-06	0.00499	4.77101e-06	18	29				
OR56B4	196335	broad.mit.edu	37	11	6129645	6129645	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6129645G>C	ENST00000316529.3	+	1	732	c.637G>C	c.(637-639)Gtt>Ctt	p.V213L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	213						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(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGTCTTGGTTGGGAGTGA	0.478																																							uc010qzx.1		NA																	0				central_nervous_system(1)	1						c.(637-639)GTT>CTT		olfactory receptor, family 56, subfamily B,							253.0	249.0	250.0					11																	6129645		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129645G>C	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.637G>C	11.37:g.6129645G>C	ENSP00000321196:p.Val213Leu						p.V213L	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	637	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	213			Helical; Name=5; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.637G>C	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.821468	0.00589	.	.	ENSG00000180919	ENST00000316529	T	0.36157	1.27	4.06	-6.69	0.01772	GPCR, rhodopsin-like superfamily (1);	0.974806	0.08313	U	0.965100	T	0.07458	0.0188	N	0.00666	-1.275	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27571	-1.0070	10	0.12103	T	0.63	.	3.4512	0.07499	0.5066:0.1957:0.199:0.0987	.	213	Q8NH76	O56B4_HUMAN	L	213	ENSP00000321196:V213L	ENSP00000321196:V213L	V	+	1	0	OR56B4	6086221	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.279000	0.00529	-1.331000	0.02252	-0.265000	0.10407	GTT		0.478	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		40	151	0	0	0	0.006999	0	40	151				
CCKBR	887	broad.mit.edu	37	11	6292011	6292011	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6292011C>A	ENST00000334619.2	+	4	982	c.789C>A	c.(787-789)gtC>gtA	p.V263V	CCKBR_ENST00000532715.1_Silent_p.V179V|CCKBR_ENST00000525462.1_Silent_p.V263V|CCKBR_ENST00000532396.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	263					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|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)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAAGCAGGGTCCGAAACCAAG	0.642																																							uc001mcp.2		NA																	0				lung(5)|ovary(2)|breast(1)	8						c.(787-789)GTC>GTA		cholecystokinin B receptor	Pentagastrin(DB00183)						59.0	53.0	55.0					11																	6292011		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292011C>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.789C>A	11.37:g.6292011C>A						CCKBR_uc001mcq.2_Silent_p.V191V|CCKBR_uc001mcr.2_Silent_p.V263V|CCKBR_uc001mcs.2_Silent_p.V263V|CCKBR_uc001mct.1_RNA	p.V263V	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	982	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	263			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.789C>A	CCDS7761.1																																																																																				0.642	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		17	35	1	0	6.94344e-10	0.006122	1.10095e-09	17	35				
DCHS1	8642	broad.mit.edu	37	11	6648657	6648657	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6648657C>A	ENST00000299441.3	-	14	6024	c.5613G>T	c.(5611-5613)ggG>ggT	p.G1871G		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1871	Cadherin 18. {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)		GCAGCAGGGTCCCTGCAGGCA	0.607																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5611-5613)GGG>GGT		dachsous 1 precursor							37.0	31.0	33.0					11																	6648657		2201	4295	6496	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648657C>A	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.5613G>T	11.37:g.6648657C>A							p.G1871G	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6023	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1871			Cadherin 18.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.5613G>T	CCDS7771.1																																																																																				0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	8	1	0	6.4e-05	0.004672	8.03467e-05	3	8				
OR10A6	390093	broad.mit.edu	37	11	7950041	7950041	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:7950041C>A	ENST00000309838.2	-	1	168	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACATGGGAACGTGGAGGCTC	0.468																																							uc010rbh.1		NA																	0				ovary(1)|skin(1)	2						c.(169-171)GTT>TTT		olfactory receptor, family 10, subfamily A,							117.0	112.0	114.0					11																	7950041		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950041C>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.169G>T	11.37:g.7950041C>A	ENSP00000312470:p.Val57Phe						p.V57F	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	169	-			57			Helical; Name=2; (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.169G>T	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286226	0.23478	.	.	ENSG00000175393	ENST00000309838	T	0.00406	7.55	4.14	-0.441	0.12257	GPCR, rhodopsin-like superfamily (1);	0.798993	0.10484	N	0.669247	T	0.00300	0.0009	N	0.17474	0.49	0.09310	N	1	D	0.54772	0.968	P	0.47402	0.546	T	0.56974	-0.7890	10	0.87932	D	0	.	7.6218	0.28189	0.0:0.3157:0.0:0.6843	.	57	Q8NH74	O10A6_HUMAN	F	57	ENSP00000312470:V57F	ENSP00000312470:V57F	V	-	1	0	OR10A6	7906617	0.000000	0.05858	0.057000	0.19452	0.185000	0.23345	0.553000	0.23391	0.046000	0.15833	-0.136000	0.14681	GTT		0.468	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		37	82	1	0	6.5261e-18	0.00874	1.22581e-17	37	82				
TUB	7275	broad.mit.edu	37	11	8123070	8123070	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:8123070G>T	ENST00000299506.2	+	12	1574	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D	TUB_ENST00000534099.1_Missense_Mutation_p.E481D|TUB_ENST00000305253.4_Missense_Mutation_p.E530D	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	475					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGTAGCAGAGGATGTGTTCA	0.572																																							uc001mga.2		NA																	0				ovary(1)	1						c.(1423-1425)GAG>GAT		tubby isoform b							199.0	151.0	168.0					11																	8123070		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8123070G>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1425G>T	11.37:g.8123070G>T	ENSP00000299506:p.Glu475Asp					TUB_uc010rbk.1_Missense_Mutation_p.E481D|TUB_uc001mfy.2_Missense_Mutation_p.E530D	p.E475D	NM_177972	NP_813977	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	12	1574	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	475					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1425G>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166977	0.38217	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.84589	-1.87;-1.87;-1.87	4.92	4.0	0.46444	Tubby, C-terminal (4);	0.047712	0.85682	N	0.000000	T	0.73489	0.3593	N	0.16368	0.405	0.58432	D	0.999999	B;B;B	0.14438	0.003;0.003;0.01	B;B;B	0.25405	0.005;0.06;0.035	T	0.64854	-0.6309	10	0.12766	T	0.61	-21.823	13.1813	0.59655	0.0781:0.0:0.9219:0.0	.	481;475;530	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	D	481;530;475	ENSP00000434400:E481D;ENSP00000305426:E530D;ENSP00000299506:E475D	ENSP00000299506:E475D	E	+	3	2	TUB	8079646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	1.195000	0.43115	0.591000	0.81541	GAG		0.572	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		24	90	1	0	4.72057e-08	0.003954	6.96674e-08	24	90				
NRIP3	56675	broad.mit.edu	37	11	9009769	9009769	+	Missense_Mutation	SNP	C	C	G	rs368304763		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:9009769C>G	ENST00000309166.3	-	2	348	c.235G>C	c.(235-237)Ggt>Cgt	p.G79R	NRIP3_ENST00000531090.1_Missense_Mutation_p.G79R	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	79							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACACGGGGACCGCTTCGGAGC	0.493																																							uc001mhg.2		NA																	0					0						c.(235-237)GGT>CGT		nuclear receptor interacting protein 3							141.0	131.0	135.0					11																	9009769		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009769C>G	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.235G>C	11.37:g.9009769C>G	ENSP00000310205:p.Gly79Arg					NRIP3_uc010rbu.1_Missense_Mutation_p.G79R	p.G79R	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	349	-			79					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.235G>C	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795814	0.31777	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.43294	0.95	5.52	3.11	0.35812	.	0.381500	0.33610	N	0.004729	T	0.19805	0.0476	N	0.08118	0	0.23823	N	0.996742	B	0.32040	0.353	B	0.30782	0.12	T	0.13980	-1.0489	10	0.25751	T	0.34	-24.5222	7.9829	0.30194	0.0:0.2387:0.0:0.7612	.	79	Q9NQ35	NRIP3_HUMAN	R	79;79;72	ENSP00000310205:G79R	ENSP00000310205:G79R	G	-	1	0	NRIP3	8966345	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	1.317000	0.33631	0.532000	0.28657	-0.300000	0.09419	GGT		0.493	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		18	58	0	0	0	0.006122	0	18	58				
USH1C	10083	broad.mit.edu	37	11	17544392	17544392	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:17544392G>T	ENST00000318024.4	-	12	1066	c.958C>A	c.(958-960)Cag>Aag	p.Q320K	USH1C_ENST00000005226.7_Missense_Mutation_p.Q320K|USH1C_ENST00000527720.1_Missense_Mutation_p.Q289K|USH1C_ENST00000527020.1_Missense_Mutation_p.Q301K	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	320					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCCGCTTCTGCATGAGAAGC	0.657																																							uc001mnf.2		NA																	0				ovary(1)	1						c.(958-960)CAG>AAG		harmonin isoform a							17.0	20.0	19.0					11																	17544392		2193	4267	6460	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17544392G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.958C>A	11.37:g.17544392G>T	ENSP00000317018:p.Gln320Lys					USH1C_uc001mne.2_Missense_Mutation_p.Q320K|USH1C_uc009yhb.2_Missense_Mutation_p.Q301K|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.Q284K	p.Q320K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			12	1067	-			320			Potential.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.958C>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187448	0.78789	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.62364	1.64;1.62;1.98;0.03	5.04	5.04	0.67666	.	0.128535	0.56097	D	0.000037	T	0.68613	0.3020	L	0.32530	0.975	0.53688	D	0.999971	D;D;D	0.69078	0.996;0.993;0.997	D;D;D	0.72982	0.979;0.952;0.977	T	0.65565	-0.6137	10	0.29301	T	0.29	.	15.3039	0.73976	0.0:0.0:1.0:0.0	.	301;320;320	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	K	320;289;301;320	ENSP00000317018:Q320K;ENSP00000432944:Q289K;ENSP00000436934:Q301K;ENSP00000005226:Q320K	ENSP00000005226:Q320K	Q	-	1	0	USH1C	17500968	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	8.418000	0.90250	2.351000	0.79841	0.462000	0.41574	CAG		0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		3	15	1	0	0.004672	0.004672	0.00538583	3	15				
IGSF22	283284	broad.mit.edu	37	11	18738369	18738369	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:18738369G>T	ENST00000513874.1	-	10	1291	c.1152C>A	c.(1150-1152)caC>caA	p.H384Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	384										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCTTAAGCGTGTGCGTCAGAC	0.517																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(1150-1152)CAC>CAA		immunoglobulin superfamily, member 22							225.0	218.0	220.0					11																	18738369		2061	4187	6248	SO:0001583	missense	283284							g.chr11:18738369G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1152C>A	11.37:g.18738369G>T	ENSP00000421191:p.His384Gln					IGSF22_uc001mpa.2_RNA	p.H384Q	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			10	1342	-			384					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1152C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687163	0.48097	.	.	ENSG00000179057	ENST00000513874	T	0.42131	0.98	5.09	-1.98	0.07480	.	0.218894	0.22871	U	0.054631	T	0.51890	0.1701	M	0.69463	2.115	0.25443	N	0.988077	D	0.60160	0.987	D	0.75020	0.985	T	0.47433	-0.9118	10	0.28530	T	0.3	.	7.5199	0.27622	0.2825:0.1106:0.6069:0.0	.	384	D6RGV7	.	Q	384	ENSP00000421191:H384Q	ENSP00000322422:H384Q	H	-	3	2	IGSF22	18694945	0.998000	0.40836	0.023000	0.16930	0.698000	0.40448	0.807000	0.27140	-0.793000	0.04475	-2.035000	0.00420	CAC		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		43	129	1	0	2.35958e-20	0.002222	4.55305e-20	43	129				
NAV2	89797	broad.mit.edu	37	11	20119157	20119157	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20119157T>C	ENST00000396087.3	+	34	6323	c.6224T>C	c.(6223-6225)cTa>cCa	p.L2075P	NAV2_ENST00000527559.2_Missense_Mutation_p.L2004P|NAV2_ENST00000540292.1_Missense_Mutation_p.L2006P|NAV2_ENST00000396085.1_Missense_Mutation_p.L2019P|NAV2_ENST00000311043.8_Missense_Mutation_p.L1080P|NAV2_ENST00000533917.1_Missense_Mutation_p.L1080P|NAV2_ENST00000349880.4_Missense_Mutation_p.L2016P|NAV2_ENST00000360655.4_Missense_Mutation_p.L1952P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2075				L -> V (in Ref. 7; BAB85038). {ECO:0000305}.	glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGAGTCAGCTAGGGCTGAAT	0.448																																							uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(6055-6057)CTA>CCA		neuron navigator 2 isoform 1							95.0	92.0	93.0					11																	20119157		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20119157T>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6224T>C	11.37:g.20119157T>C	ENSP00000379396:p.Leu2075Pro					NAV2_uc001mpp.2_Missense_Mutation_p.L1952P|NAV2_uc009yhx.2_Missense_Mutation_p.L1080P|NAV2_uc009yhz.2_Missense_Mutation_p.L661P|NAV2_uc001mpu.2_Missense_Mutation_p.L454P	p.L2019P	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			31	6417	+			2075	L -> V (in Ref. 7; BAB85038).				A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6056T>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750123	0.89753	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.60920	0.15;0.26;0.24;0.38;0.28;0.28;1.85;1.85	5.87	5.87	0.94306	.	0.000000	0.51477	D	0.000094	T	0.78910	0.4358	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.81278	-0.1005	9	.	.	.	.	16.2377	0.82389	0.0:0.0:0.0:1.0	.	2019;1080;2016;1952	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	P	1952;2019;2016;2075;2004;2006;1080;1080	ENSP00000353871:L1952P;ENSP00000379394:L2019P;ENSP00000309577:L2016P;ENSP00000379396:L2075P;ENSP00000435395:L2004P;ENSP00000443489:L2006P;ENSP00000437316:L1080P;ENSP00000312169:L1080P	.	L	+	2	0	NAV2	20075733	1.000000	0.71417	0.968000	0.41197	0.973000	0.67179	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	CTA		0.448	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		20	55	0	0	0	0.001216	0	20	55				
DBX1	120237	broad.mit.edu	37	11	20178115	20178115	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20178115T>C	ENST00000524983.2	-	4	965	c.677A>G	c.(676-678)aAa>aGa	p.K226R	DBX1_ENST00000227256.3_Missense_Mutation_p.K265R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	226					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAACCAGATTTTCACCTGGAA	0.647																																							uc001mpw.1		NA																	0				ovary(1)	1						c.(793-795)AAA>AGA		developing brain homeobox 1							40.0	46.0	44.0					11																	20178115		2203	4300	6503	SO:0001583	missense	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178115T>C			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.677A>G	11.37:g.20178115T>C	ENSP00000436881:p.Lys226Arg						p.K265R	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	794	-			226			Homeobox.			Missense_Mutation	SNP	ENST00000524983.2	37	c.794A>G		.	.	.	.	.	.	.	.	.	.	T	29.3	4.996712	0.93167	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;D	0.96685	-4.09;-3.82	4.87	4.87	0.63330	.	0.047647	0.85682	N	0.000000	D	0.95379	0.8500	M	0.80746	2.51	0.80722	D	1	B	0.33448	0.412	B	0.29598	0.104	D	0.95122	0.8247	10	0.62326	D	0.03	-3.9781	14.1562	0.65419	0.0:0.0:0.0:1.0	.	265	F8W811	.	R	226;265	ENSP00000436881:K226R;ENSP00000227256:K265R	ENSP00000227256:K265R	K	-	2	0	DBX1	20134691	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.001000	0.88508	1.806000	0.52798	0.528000	0.53228	AAA		0.647	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		8	72	0	0	0	0.00308	0	8	72				
PRMT3	10196	broad.mit.edu	37	11	20429456	20429456	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20429456G>T	ENST00000331079.6	+	9	988		c.e9-1		PRMT3_ENST00000437750.2_Splice_Site	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3						histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AATTACCCTAGGTAGTTTTGG	0.343																																							uc001mqb.2		NA																	0					0						c.e9-1		protein arginine methyltransferase 3 isoform 1							121.0	116.0	118.0					11																	20429456		2203	4300	6503	SO:0001630	splice_region_variant	10196						zinc ion binding	g.chr11:20429456G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.772-1G>T	11.37:g.20429456G>T						PRMT3_uc001mqc.2_Splice_Site_p.V181_splice|PRMT3_uc010rdn.1_Splice_Site_p.V196_splice	p.V258_splice	NM_005788	NP_005779	O60678	ANM3_HUMAN			9	989	+								B4DUC7	Splice_Site	SNP	ENST00000331079.6	37	c.772_splice	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207125	0.79127	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT3	20386032	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.853000	0.92222	2.774000	0.95407	0.585000	0.79938	.		0.343	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	Intron	28	63	1	0	1.04121e-07	0.005443	1.515e-07	28	63				
KIAA1549L	25758	broad.mit.edu	37	11	33572767	33572767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:33572767G>A	ENST00000321505.4	+	4	2972	c.2792G>A	c.(2791-2793)tGg>tAg	p.W931*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.W937*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.W937*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	931						integral component of membrane (GO:0016021)											GCCTCCCCATGGAATCCCCAG	0.527																																							uc001mup.3		NA																	0				ovary(2)	2						c.(2809-2811)TGG>TAG		hypothetical protein LOC25758							80.0	81.0	81.0					11																	33572767		2091	4228	6319	SO:0001587	stop_gained	25758					integral to membrane		g.chr11:33572767G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2792G>A	11.37:g.33572767G>A	ENSP00000315295:p.Trp931*					C11orf41_uc001mun.1_Nonsense_Mutation_p.W937*	p.W937*	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			4	2934	+			931					B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.2810G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.197362|9.197362	0.99098|0.99098	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47210|.	0.1433|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34700|.	-0.9818|.	3|.	.|0.02654	.|T	.|1	-9.4394|-9.4394	18.6524|18.6524	0.91435|0.91435	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	329|931;937;937;770	.|.	.|ENSP00000265654:W937X	G|W	+|+	1|2	0|0	C11orf41|C11orf41	33529343|33529343	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.345000|0.345000	0.29048|0.29048	7.086000|7.086000	0.76885|0.76885	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		4	62	0	0	0	0.000248	0	4	62				
LRRC4C	57689	broad.mit.edu	37	11	40136437	40136437	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:40136437G>A	ENST00000278198.2	-	2	3369	c.1406C>T	c.(1405-1407)gCa>gTa	p.A469V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.A469V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A469V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A469V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	469					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGGTCCGTGCCTCATCCTG	0.522																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1405-1407)GCA>GTA		netrin-G1 ligand precursor							134.0	122.0	126.0					11																	40136437		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136437G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1406C>T	11.37:g.40136437G>A	ENSP00000278198:p.Ala469Val					LRRC4C_uc001mxc.1_Missense_Mutation_p.A465V|LRRC4C_uc001mxd.1_Missense_Mutation_p.A465V|LRRC4C_uc001mxb.1_Missense_Mutation_p.A465V	p.A469V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3370	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	469					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1406C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	7.930	0.740462	0.15642	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.84	5.84	0.93424	.	0.108348	0.64402	D	0.000008	T	0.41903	0.1179	N	0.22421	0.69	0.45747	D	0.998648	B	0.06786	0.001	B	0.12156	0.007	T	0.18840	-1.0324	10	0.20046	T	0.44	.	19.1433	0.93455	0.0:0.0:1.0:0.0	.	469	Q9HCJ2	LRC4C_HUMAN	V	469	ENSP00000278198:A469V;ENSP00000436976:A469V;ENSP00000437132:A469V;ENSP00000434761:A469V	ENSP00000278198:A469V	A	-	2	0	LRRC4C	40093013	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	4.822000	0.62686	2.760000	0.94817	0.655000	0.94253	GCA		0.522	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		19	48	0	0	0	0.001216	0	19	48				
LRRC4C	57689	broad.mit.edu	37	11	40136889	40136889	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:40136889G>T	ENST00000278198.2	-	2	2917	c.954C>A	c.(952-954)gaC>gaA	p.D318E	LRRC4C_ENST00000527150.1_Missense_Mutation_p.D318E|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D318E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D318E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	318	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGGGGCCATGTCTTTTATCC	0.488																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(952-954)GAC>GAA		netrin-G1 ligand precursor							115.0	99.0	104.0					11																	40136889		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136889G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.954C>A	11.37:g.40136889G>T	ENSP00000278198:p.Asp318Glu					LRRC4C_uc001mxc.1_Missense_Mutation_p.D314E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D314E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D314E	p.D318E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2918	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	318			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.954C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.297258	0.01364	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	5.76	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.052715	0.85682	D	0.000000	T	0.01523	0.0049	N	0.01096	-1.015	0.37951	D	0.932646	B	0.02656	0.0	B	0.01281	0.0	T	0.36187	-0.9758	10	0.02654	T	1	.	9.5622	0.39376	0.0745:0.1417:0.7838:0.0	.	318	Q9HCJ2	LRC4C_HUMAN	E	318	ENSP00000278198:D318E;ENSP00000436976:D318E;ENSP00000437132:D318E;ENSP00000434761:D318E	ENSP00000278198:D318E	D	-	3	2	LRRC4C	40093465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.888000	0.63164	1.453000	0.47775	0.655000	0.94253	GAC		0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		16	33	1	0	0.000308642	0.003163	0.000372422	16	33				
OR4X2	119764	broad.mit.edu	37	11	48267425	48267425	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:48267425T>C	ENST00000302329.3	+	1	818	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTACCACTCTGCCCATAGAC	0.522																																							uc001ngs.1		NA																	0					0						c.(769-771)CTG>CCG		olfactory receptor, family 4, subfamily X,							78.0	68.0	71.0					11																	48267425		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267425T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.770T>C	11.37:g.48267425T>C	ENSP00000307751:p.Leu257Pro						p.L257P	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	770	+			257			Extracellular (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.770T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330889	0.41297	.	.	ENSG00000172208	ENST00000302329	T	0.00115	8.71	5.37	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.161173	0.29106	N	0.013122	T	0.00241	0.0007	L	0.28608	0.87	0.19300	N	0.99997	D	0.64830	0.994	D	0.71656	0.974	T	0.58482	-0.7629	10	0.87932	D	0	.	8.3605	0.32357	0.3014:0.0:0.0:0.6985	.	257	Q8NGF9	OR4X2_HUMAN	P	257	ENSP00000307751:L257P	ENSP00000307751:L257P	L	+	2	0	OR4X2	48224001	0.000000	0.05858	0.012000	0.15200	0.658000	0.38924	0.552000	0.23376	2.020000	0.59435	0.528000	0.53228	CTG		0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		8	37	0	0	0	0.004482	0	8	37				
OR4C3	256144	broad.mit.edu	37	11	48347249	48347249	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:48347249C>A	ENST00000319856.4	+	1	778	c.757C>A	c.(757-759)Cac>Aac	p.H253N		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	226						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTTGAGGTCCCACAGTGCAGA	0.498																																							uc010rhv.1		NA																	0				skin(1)	1						c.(757-759)CAC>AAC		olfactory receptor, family 4, subfamily C,							257.0	194.0	215.0					11																	48347249		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347249C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.757C>A	11.37:g.48347249C>A	ENSP00000321419:p.His253Asn						p.H253N	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	757	+			226			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.757C>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.766027	0.31228	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.36699	1.24	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.41766	0.1173	L	0.49571	1.57	0.09310	N	1	B	0.25521	0.128	B	0.34242	0.178	T	0.40794	-0.9544	10	0.62326	D	0.03	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	226	Q8NH37	OR4C3_HUMAN	N	253;116	ENSP00000321419:H253N	ENSP00000321419:H253N	H	+	1	0	OR4C3	48303825	0.000000	0.05858	0.994000	0.49952	0.560000	0.35617	0.573000	0.23699	2.829000	0.97493	0.549000	0.68633	CAC		0.498	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		9	97	1	0	0.00448238	0.004482	0.00518058	9	97				
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:49208318C>A	ENST00000256999.2	-	5	777	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	FOLH1_ENST00000356696.3_Missense_Mutation_p.D173Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.D158Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TACACTAGATCGCCCTGTTGA	0.393																																							uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(517-519)GAT>TAT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						90.0	89.0	89.0					11																	49208318		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208318C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.517G>T	11.37:g.49208318C>A	ENSP00000256999:p.Asp173Tyr					FOLH1_uc001ngz.2_Missense_Mutation_p.D173Y|FOLH1_uc009yly.2_Missense_Mutation_p.D158Y|FOLH1_uc009ylz.2_Missense_Mutation_p.D158Y|FOLH1_uc009yma.2_5'UTR	p.D173Y	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			5	778	-			173			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.517G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041313	0.55003	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.05	3.05	0.35203	Protease-associated domain, PA (1);	0.236753	0.29266	N	0.012650	T	0.27419	0.0673	M	0.81341	2.54	0.80722	D	1	D;D;D;P	0.71674	0.995;0.998;0.997;0.564	D;D;D;B	0.70016	0.967;0.959;0.947;0.213	T	0.06661	-1.0814	10	0.72032	D	0.01	.	11.9601	0.53003	0.0:1.0:0.0:0.0	.	158;158;173;173	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Y	173;173;158;158;173	ENSP00000256999:D173Y;ENSP00000349129:D173Y;ENSP00000344131:D158Y;ENSP00000431463:D158Y	ENSP00000256999:D173Y	D	-	1	0	FOLH1	49164894	1.000000	0.71417	0.990000	0.47175	0.636000	0.38137	6.933000	0.75874	1.746000	0.51805	0.430000	0.28490	GAT		0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		16	71	1	0	4.7546e-09	0.004007	7.32274e-09	16	71				
OR4A16	81327	broad.mit.edu	37	11	55111564	55111564	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55111564G>T	ENST00000314721.2	+	1	938	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AAAATGCTATGAAAAATCTCT	0.313																																							uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(886-888)ATG>ATT		olfactory receptor, family 4, subfamily A,							41.0	41.0	41.0					11																	55111564		2201	4295	6496	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111564G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.888G>T	11.37:g.55111564G>T	ENSP00000325128:p.Met296Ile						p.M296I	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	888	+			296			Cytoplasmic (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.888G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.740228	0.00675	.	.	ENSG00000181961	ENST00000314721	T	0.35048	1.33	3.02	2.06	0.26882	.	.	.	.	.	T	0.18593	0.0446	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.25257	-1.0137	9	0.27785	T	0.31	.	6.0068	0.19551	0.1201:0.0:0.6935:0.1864	.	296	Q8NH70	O4A16_HUMAN	I	296	ENSP00000325128:M296I	ENSP00000325128:M296I	M	+	3	0	OR4A16	54868140	0.000000	0.05858	0.460000	0.27093	0.011000	0.07611	0.180000	0.16860	0.145000	0.18977	-1.481000	0.00988	ATG		0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		16	42	1	0	8.60227e-14	0.004007	1.51018e-13	16	42				
OR4A15	81328	broad.mit.edu	37	11	55135452	55135452	+	Missense_Mutation	SNP	G	G	T	rs149233751		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55135452G>T	ENST00000314706.3	+	1	93	c.93G>T	c.(91-93)atG>atT	p.M31I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M31I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGAACACATGAAAAATAAGA	0.388																																							uc010rif.1		NA																	1	Substitution - Missense(1)	p.M31I(1)	skin(1)	ovary(1)|skin(1)	2						c.(91-93)ATG>ATT		olfactory receptor, family 4, subfamily A,							64.0	61.0	62.0					11																	55135452		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135452G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.93G>T	11.37:g.55135452G>T	ENSP00000325065:p.Met31Ile						p.M31I	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	93	+			31			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.93G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.175634	0.38413	.	.	ENSG00000181958	ENST00000314706	T	0.01203	5.18	3.48	3.48	0.39840	.	0.000000	0.46145	U	0.000310	T	0.02119	0.0066	M	0.64080	1.96	0.27474	N	0.952775	P	0.41524	0.753	B	0.42214	0.38	T	0.24905	-1.0147	10	0.87932	D	0	.	10.3795	0.44104	0.0:0.0:1.0:0.0	.	31	Q8NGL6	O4A15_HUMAN	I	31	ENSP00000325065:M31I	ENSP00000325065:M31I	M	+	3	0	OR4A15	54892028	0.991000	0.36638	0.169000	0.22859	0.025000	0.11179	2.965000	0.49200	1.785000	0.52413	0.492000	0.49549	ATG		0.388	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		8	35	1	0	0.00307968	0.00308	0.00357786	8	35				
OR5D13	390142	broad.mit.edu	37	11	55541121	55541121	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55541121T>A	ENST00000361760.1	+	1	208	c.208T>A	c.(208-210)Ttg>Atg	p.L70M		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	70						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCACTTGTCCTTGACAGACTT	0.398																																							uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(208-210)TTG>ATG		olfactory receptor, family 5, subfamily D,							176.0	162.0	167.0					11																	55541121		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541121T>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.208T>A	11.37:g.55541121T>A	ENSP00000354800:p.Leu70Met						p.L70M	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	208	+		all_epithelial(135;0.196)	70			Helical; Name=2; (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.208T>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	9.956	1.221611	0.22457	.	.	ENSG00000198877	ENST00000361760	T	0.00557	6.62	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.232546	0.21970	U	0.066468	T	0.00754	0.0025	L	0.48986	1.54	0.09310	N	1	P	0.44877	0.845	P	0.47206	0.541	T	0.50466	-0.8825	10	0.87932	D	0	-11.9076	6.57	0.22533	0.0:0.1143:0.0:0.8857	.	70	Q8NGL4	OR5DD_HUMAN	M	70	ENSP00000354800:L70M	ENSP00000354800:L70M	L	+	1	2	OR5D13	55297697	0.001000	0.12720	0.069000	0.20011	0.031000	0.12232	0.177000	0.16801	1.626000	0.50381	0.398000	0.26397	TTG		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		18	88	0	0	0	0.007413	0	18	88				
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55579578G>C	ENST00000333973.2	+	1	725	c.636G>C	c.(634-636)atG>atC	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502																																							uc001nhw.1		NA																	1	Substitution - Missense(1)		kidney(1)	skin(3)|ovary(2)	5						c.(634-636)ATG>ATC		olfactory receptor, family 5, subfamily L,							246.0	197.0	214.0					11																	55579578		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579578G>C	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.636G>C	11.37:g.55579578G>C	ENSP00000335529:p.Met212Ile						p.M212I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	636	+		all_epithelial(135;0.208)	212			Helical; Name=5; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.636G>C	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	10.66	1.411629	0.25465	.	.	ENSG00000186117	ENST00000333973	T	0.32988	1.43	4.12	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.509250	0.03868	N	0.275104	T	0.08714	0.0216	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31166	-0.9953	10	0.49607	T	0.09	0.007	4.7613	0.13110	0.0721:0.209:0.189:0.5299	.	212	Q8NGL2	OR5L1_HUMAN	I	212	ENSP00000335529:M212I	ENSP00000335529:M212I	M	+	3	0	OR5L1	55336154	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.057000	0.01395	-1.428000	0.01989	0.428000	0.28381	ATG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		30	108	0	0	0	0.007291	0	30	108				
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:56114262C>A	ENST00000279783.2	+	1	842	c.748C>A	c.(748-750)Cat>Aat	p.H250N		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408										HNSCC(65;0.19)																													uc010rjg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(748-750)CAT>AAT		olfactory receptor, family 8, subfamily K,							122.0	106.0	111.0					11																	56114262		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114262C>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.748C>A	11.37:g.56114262C>A	ENSP00000279783:p.His250Asn	HNSCC(65;0.19)					p.H250N	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	748	+	Esophageal squamous(21;0.00448)		250			Helical; Name=6; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.748C>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478593	0.84747	.	.	ENSG00000150261	ENST00000279783	T	0.00314	8.14	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.01489	0.0048	H	0.98577	4.27	0.51482	D	0.999923	D	0.89917	1.0	D	0.77004	0.989	T	0.31916	-0.9926	10	0.87932	D	0	-13.7143	18.2972	0.90150	0.0:1.0:0.0:0.0	.	250	Q8NGG5	OR8K1_HUMAN	N	250	ENSP00000279783:H250N	ENSP00000279783:H250N	H	+	1	0	OR8K1	55870838	1.000000	0.71417	0.526000	0.27913	0.987000	0.75469	5.598000	0.67585	2.297000	0.77311	0.549000	0.68633	CAT		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		16	48	1	0	6.31663e-08	0.003163	9.24099e-08	16	48				
OR5M3	219482	broad.mit.edu	37	11	56237537	56237537	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:56237537G>T	ENST00000312240.2	-	1	477	c.437C>A	c.(436-438)cCt>cAt	p.P146H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	146						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)					ATAAATGTAAGGGAAAGTAAT	0.413																																							uc010rjk.1		NA																	0				ovary(2)	2						c.(436-438)CCT>CAT		olfactory receptor, family 5, subfamily M,							109.0	100.0	103.0					11																	56237537		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237537G>T	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.437C>A	11.37:g.56237537G>T	ENSP00000312208:p.Pro146His						p.P146H	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146			Helical; Name=4; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.437C>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408165	0.42715	.	.	ENSG00000174937	ENST00000312240	T	0.37411	1.2	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.61887	0.2383	M	0.84948	2.725	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.57596	-0.7784	10	0.87932	D	0	-13.5292	12.1217	0.53895	0.0:0.0:0.8278:0.1722	.	146	Q8NGP4	OR5M3_HUMAN	H	146	ENSP00000312208:P146H	ENSP00000312208:P146H	P	-	2	0	OR5M3	55994113	0.004000	0.15560	0.997000	0.53966	0.455000	0.32408	1.414000	0.34736	2.381000	0.81170	0.478000	0.44815	CCT		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		26	91	1	0	3.08376e-08	0.00333	4.57624e-08	26	91				
OR9G1	390174	broad.mit.edu	37	11	56468604	56468604	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:56468604C>G	ENST00000312153.1	+	1	741	c.741C>G	c.(739-741)gtC>gtG	p.V247V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGACCTCTGTCACTTTATACT	0.453																																							uc010rjn.1		NA																	0					0						c.(739-741)GTC>GTG		olfactory receptor, family 9, subfamily G,							237.0	244.0	242.0					11																	56468604		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468604C>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.741C>G	11.37:g.56468604C>G							p.V247V	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	741	+			247			Helical; Name=6; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.741C>G	CCDS31536.1																																																																																				0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		21	271	0	0	0	0.001523	0	21	271				
CTNND1	1500	broad.mit.edu	37	11	57569438	57569438	+	Missense_Mutation	SNP	A	A	G	rs367896892		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:57569438A>G	ENST00000399050.4	+	7	1726	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	CTNND1_ENST00000415361.2_Missense_Mutation_p.N296S|CTNND1_ENST00000361332.4_Missense_Mutation_p.N397S|CTNND1_ENST00000428599.2_Missense_Mutation_p.N397S|CTNND1_ENST00000529526.1_Missense_Mutation_p.N343S|CTNND1_ENST00000529919.1_Missense_Mutation_p.N397S|CTNND1_ENST00000360682.6_Missense_Mutation_p.N397S|CTNND1_ENST00000525902.1_Missense_Mutation_p.N74S|CTNND1_ENST00000526357.1_Missense_Mutation_p.N343S|CTNND1_ENST00000532463.1_Missense_Mutation_p.N296S|CTNND1_ENST00000533667.1_Missense_Mutation_p.N74S|CTNND1_ENST00000526938.1_Missense_Mutation_p.N397S|CTNND1_ENST00000361796.4_Missense_Mutation_p.N397S|CTNND1_ENST00000527467.1_Missense_Mutation_p.N74S|CTNND1_ENST00000399039.4_Missense_Mutation_p.N397S|CTNND1_ENST00000361391.6_Missense_Mutation_p.N397S|CTNND1_ENST00000528232.1_Missense_Mutation_p.N296S|CTNND1_ENST00000529873.1_Missense_Mutation_p.N343S|CTNND1_ENST00000531014.1_Missense_Mutation_p.N74S|CTNND1_ENST00000530748.1_Missense_Mutation_p.N343S|CTNND1_ENST00000532649.1_Missense_Mutation_p.N343S|CTNND1_ENST00000532787.1_Missense_Mutation_p.N296S|CTNND1_ENST00000524630.1_Missense_Mutation_p.N397S|CTNND1_ENST00000534579.1_Missense_Mutation_p.N343S|CTNND1_ENST00000426142.2_Missense_Mutation_p.N296S|CTNND1_ENST00000532245.1_Missense_Mutation_p.N296S|CTNND1_ENST00000532844.1_Missense_Mutation_p.N343S|CTNND1_ENST00000358694.6_Missense_Mutation_p.N397S|CTNND1_ENST00000528621.1_Missense_Mutation_p.N343S|CTNND1_ENST00000529986.1_Missense_Mutation_p.N296S|CTNND1_ENST00000526772.1_Missense_Mutation_p.N74S|CTNND1_ENST00000530094.1_Missense_Mutation_p.N296S	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	397					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGCTACCGCAATGACAAGGTG	0.532																																							uc001nmc.3		NA																	0				breast(4)|ovary(1)|kidney(1)	6						c.(1189-1191)AAT>AGT		catenin, delta 1 isoform 1ABC		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4066		0,0,2033	122.0	122.0	122.0		1190,1190,1190,1190,1190,887,887,887,887,887,887,887,1028,1028,1190,1028,1028,1028,1028,887,1028,1190	5.6	1.0	11		122	1,8397		0,1,4198	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CTNND1	NM_001085458.1,NM_001085459.1,NM_001085460.1,NM_001085461.1,NM_001085462.1,NM_001085463.1,NM_001085464.1,NM_001085465.1,NM_001085466.1,NM_001085467.1,NM_001085468.1,NM_001085469.1,NM_001206883.1,NM_001206884.1,NM_001206885.1,NM_001206886.1,NM_001206887.1,NM_001206888.1,NM_001206889.1,NM_001206890.1,NM_001206891.1,NM_001331.2	46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46,46	0,1,6231	GG,GA,AA		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	397/969,397/963,397/934,397/934,397/934,296/868,296/862,296/841,296/839,296/833,296/833,296/833,343/915,343/886,397/940,343/909,343/888,343/880,343/880,296/833,343/880,397/942	57569438	1,12463	2033	4199	6232	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569438A>G	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1190A>G	11.37:g.57569438A>G	ENSP00000382004:p.Asn397Ser					CTNND1_uc001nlh.1_Missense_Mutation_p.N397S|CTNND1_uc001nlu.3_Missense_Mutation_p.N296S|CTNND1_uc001nlt.3_Missense_Mutation_p.N296S|CTNND1_uc001nls.3_Missense_Mutation_p.N296S|CTNND1_uc001nlw.3_Missense_Mutation_p.N296S|CTNND1_uc001nmf.3_Missense_Mutation_p.N397S|CTNND1_uc001nmd.3_Missense_Mutation_p.N343S|CTNND1_uc001nlk.3_Missense_Mutation_p.N343S|CTNND1_uc001nme.3_Missense_Mutation_p.N397S|CTNND1_uc001nll.3_Missense_Mutation_p.N343S|CTNND1_uc001nmg.3_Missense_Mutation_p.N343S|CTNND1_uc001nlj.3_Missense_Mutation_p.N343S|CTNND1_uc001nlr.3_Missense_Mutation_p.N343S|CTNND1_uc001nlp.3_Missense_Mutation_p.N343S|CTNND1_uc001nlx.3_Missense_Mutation_p.N74S|CTNND1_uc001nlz.3_Missense_Mutation_p.N74S|CTNND1_uc009ymn.2_Missense_Mutation_p.N74S|CTNND1_uc001nlm.3_Missense_Mutation_p.N397S|CTNND1_uc001nly.3_Missense_Mutation_p.N74S|CTNND1_uc001nmb.3_Missense_Mutation_p.N74S|CTNND1_uc001nma.3_Missense_Mutation_p.N74S|CTNND1_uc001nmi.3_Missense_Mutation_p.N296S|CTNND1_uc001nmh.3_Missense_Mutation_p.N397S|CTNND1_uc001nlq.3_Missense_Mutation_p.N296S|CTNND1_uc001nln.3_Missense_Mutation_p.N397S|CTNND1_uc001nli.3_Missense_Mutation_p.N397S|CTNND1_uc001nlo.3_Missense_Mutation_p.N296S|CTNND1_uc001nlv.3_Missense_Mutation_p.N296S	p.N397S	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1761	+		all_epithelial(135;0.155)	397					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1190A>G	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460696	0.84317	0.0	1.19E-4	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.74;0.74;0.74;0.68;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.998;0.998;0.998;0.985;0.998;0.999	D;D;D;D;D;D;P;D;D	0.83275	0.994;0.994;0.996;0.994;0.994;0.994;0.881;0.994;0.996	T	0.71813	-0.4479	10	0.72032	D	0.01	-0.3902	15.4319	0.75105	1.0:0.0:0.0:0.0	.	397;397;397;296;343;343;397;397;397	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	S	397;397;397;74;397;397;343;296;397;397;397;296;296;397;296;74;343;343;343;397;74;296;74;74;343;74;343;343;296;296;296;343;397	ENSP00000436543:N397S;ENSP00000434808:N397S;ENSP00000381996:N397S;ENSP00000435242:N74S;ENSP00000353902:N397S;ENSP00000354907:N397S;ENSP00000436323:N343S;ENSP00000409930:N296S;ENSP00000382004:N397S;ENSP00000354785:N397S;ENSP00000354823:N397S;ENSP00000432075:N296S;ENSP00000437156:N296S;ENSP00000351527:N397S;ENSP00000434949:N296S;ENSP00000437051:N74S;ENSP00000435379:N343S;ENSP00000432243:N343S;ENSP00000436744:N343S;ENSP00000413586:N397S;ENSP00000434900:N74S;ENSP00000435266:N296S;ENSP00000432623:N74S;ENSP00000433158:N74S;ENSP00000435494:N343S;ENSP00000434672:N74S;ENSP00000433276:N343S;ENSP00000433334:N343S;ENSP00000437327:N296S;ENSP00000403518:N296S;ENSP00000434017:N296S;ENSP00000435789:N343S;ENSP00000432041:N397S	ENSP00000351527:N397S	N	+	2	0	CTNND1	57326014	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.798000	0.91888	2.116000	0.64780	0.455000	0.32223	AAT		0.532	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		4	78	0	0	0	0.000248	0	4	78				
OR5B12	390191	broad.mit.edu	37	11	58206793	58206793	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:58206793T>C	ENST00000302572.2	-	1	853	c.832A>G	c.(832-834)Ata>Gta	p.I278V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAATGACTATGGCATAGAAC	0.438																																							uc010rkh.1		NA																	0					0						c.(832-834)ATA>GTA		olfactory receptor, family 5, subfamily B,							85.0	80.0	82.0					11																	58206793		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206793T>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.832A>G	11.37:g.58206793T>C	ENSP00000306657:p.Ile278Val						p.I278V	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	832	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	278			Helical; Name=7; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.832A>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	T	2.547	-0.305038	0.05495	.	.	ENSG00000172362	ENST00000302572	T	0.00014	9.22	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.360939	0.23636	N	0.046065	T	0.00039	0.0001	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.02625	-1.1132	10	0.09590	T	0.72	-10.3815	5.5462	0.17065	0.0:0.1962:0.0:0.8038	.	278	Q96R08	OR5BC_HUMAN	V	278	ENSP00000306657:I278V	ENSP00000306657:I278V	I	-	1	0	OR5B12	57963369	0.000000	0.05858	0.041000	0.18516	0.984000	0.73092	-0.480000	0.06559	1.925000	0.55765	0.374000	0.22700	ATA		0.438	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		10	31	0	0	0	0.006214	0	10	31				
OR4D6	219983	broad.mit.edu	37	11	59225153	59225153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:59225153C>A	ENST00000300127.2	+	1	743	c.720C>A	c.(718-720)tgC>tgA	p.C240*		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	240						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTCCACGTGCACGTCCCACA	0.572																																							uc010rku.1		NA																	0				ovary(1)	1						c.(718-720)TGC>TGA		olfactory receptor, family 4, subfamily D,							119.0	107.0	111.0					11																	59225153		2201	4295	6496	SO:0001587	stop_gained	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225153C>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.720C>A	11.37:g.59225153C>A	ENSP00000300127:p.Cys240*						p.C240*	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	720	+			240			Helical; Name=6; (Potential).		B2RNP7|Q6IFF5|Q96R74	Nonsense_Mutation	SNP	ENST00000300127.2	37	c.720C>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402972	0.42613	.	.	ENSG00000166884	ENST00000300127	.	.	.	5.87	0.251	0.15540	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0697	7.9577	0.30053	0.0:0.3558:0.0:0.6442	.	.	.	.	X	240	.	ENSP00000300127:C240X	C	+	3	2	OR4D6	58981729	0.001000	0.12720	0.987000	0.45799	0.230000	0.25150	-0.045000	0.12003	0.120000	0.18254	0.655000	0.94253	TGC		0.572	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		17	66	1	0	5.3912e-06	0.006122	7.26217e-06	17	66				
FADS2	9415	broad.mit.edu	37	11	61608140	61608140	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:61608140C>G	ENST00000278840.4	+	4	1191	c.561C>G	c.(559-561)gtC>gtG	p.V187V	FADS2_ENST00000522056.1_Silent_p.V156V|FADS2_ENST00000257261.6_Silent_p.V165V|FADS2_ENST00000521849.1_Silent_p.V187V	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	187					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGTCTGTCTACAGAAAAC	0.547																																							uc001nsl.1		NA																	0				ovary(1)|pancreas(1)	2						c.(559-561)GTC>GTG		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						206.0	187.0	194.0					11																	61608140		2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61608140C>G	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.561C>G	11.37:g.61608140C>G						FADS2_uc001nsj.2_Silent_p.V165V|FADS2_uc010rlo.1_Silent_p.V156V|FADS2_uc001nsk.2_Silent_p.V187V	p.V187V	NM_004265	NP_004256	O95864	FADS2_HUMAN			4	711	+			187			Cytoplasmic (Potential).		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.561C>G	CCDS8012.1																																																																																				0.547	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		4	116	0	0	0	0.001168	0	4	116				
AHNAK	79026	broad.mit.edu	37	11	62293116	62293116	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:62293116C>A	ENST00000378024.4	-	5	9047	c.8773G>T	c.(8773-8775)Gtc>Ttc	p.V2925F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2925					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTGAGACATCAACGTCA	0.507																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8773-8775)GTC>TTC		AHNAK nucleoprotein isoform 1							186.0	190.0	189.0					11																	62293116		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293116C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8773G>T	11.37:g.62293116C>A	ENSP00000367263:p.Val2925Phe					AHNAK_uc001ntk.1_Intron	p.V2925F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9073	-		Melanoma(852;0.155)	2925					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8773G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.22	1.872408	0.33069	.	.	ENSG00000124942	ENST00000378024	T	0.01215	5.16	3.44	-0.525	0.11917	.	0.203180	0.24343	N	0.039345	T	0.03136	0.0092	M	0.92077	3.27	0.09310	N	1	P	0.44429	0.835	B	0.44224	0.444	T	0.28459	-1.0043	10	0.29301	T	0.29	-8.31	8.8381	0.35123	0.0:0.5654:0.0:0.4346	.	2925	Q09666	AHNK_HUMAN	F	2925	ENSP00000367263:V2925F	ENSP00000367263:V2925F	V	-	1	0	AHNAK	62049692	.	.	0.002000	0.10522	0.647000	0.38526	.	.	0.064000	0.16427	0.394000	0.25966	GTC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		79	242	1	0	3.54697e-40	0.00361	7.16328e-40	79	242				
TUT1	64852	broad.mit.edu	37	11	62356644	62356644	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:62356644T>C	ENST00000476907.1	-	2	823	c.132A>G	c.(130-132)gtA>gtG	p.V44V	TUT1_ENST00000308436.7_Silent_p.V82V|MIR3654_ENST00000496634.2_Silent_p.V44V			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	44					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCGTAGTTCTACCAGGTGCC	0.532																																							uc001nto.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(244-246)GTA>GTG		terminal uridylyl transferase 1, U6							92.0	79.0	83.0					11																	62356644		2202	4299	6501	SO:0001819	synonymous_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62356644T>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.132A>G	11.37:g.62356644T>C							p.V82V	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			2	284	-			44					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.246A>G																																																																																					0.532	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		4	25	0	0	0	0.001168	0	4	25				
MARK2	2011	broad.mit.edu	37	11	63671564	63671564	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:63671564A>T	ENST00000509502.2	+	15	1982	c.1519A>T	c.(1519-1521)Aac>Tac	p.N507Y	MARK2_ENST00000350490.7_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.N541Y|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000513765.2_Missense_Mutation_p.N508Y|MARK2_ENST00000502399.3_Missense_Mutation_p.N540Y|MARK2_ENST00000402010.2_Missense_Mutation_p.N541Y|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000377809.4_Missense_Mutation_p.N541Y	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CGTGCACCCCAACAAGGCCTC	0.697																																							uc001nxw.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1621-1623)AAC>TAC		MAP/microtubule affinity-regulating kinase 2							16.0	18.0	17.0					11																	63671564		1840	4076	5916	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63671564A>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1519A>T	11.37:g.63671564A>T	ENSP00000423974:p.Asn507Tyr					MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron|MARK2_uc001nxz.3_Missense_Mutation_p.N507Y|MARK2_uc009yoy.2_Intron	p.N541Y	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			15	2200	+			541						Missense_Mutation	SNP	ENST00000509502.2	37	c.1621A>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.793866	0.31777	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000502399;ENST00000509502;ENST00000513765	T;T;T;T;T	0.71461	-0.55;-0.57;-0.57;-0.57;-0.56	4.31	4.31	0.51392	.	0.327233	0.28971	N	0.013554	T	0.48768	0.1518	N	0.24115	0.695	0.80722	D	1	B;B	0.31241	0.315;0.022	B;B	0.20184	0.028;0.007	T	0.53450	-0.8437	10	0.62326	D	0.03	.	3.8393	0.08908	0.7126:0.0:0.0991:0.1883	.	507;541	Q7KZI7-14;Q7KZI7	.;MARK2_HUMAN	Y	541;541;541;540;507;508	ENSP00000385751:N541Y;ENSP00000326632:N541Y;ENSP00000367040:N541Y;ENSP00000423974:N507Y;ENSP00000421075:N508Y	ENSP00000326632:N541Y	N	+	1	0	MARK2	63428140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.750000	0.47500	1.934000	0.56057	0.449000	0.29647	AAC		0.697	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	15	0	0	0	0.000248	0	4	15				
PYGM	5837	broad.mit.edu	37	11	64521742	64521742	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:64521742G>T	ENST00000164139.3	-	9	1473	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.R271R	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	359					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTCCATCCGTTCCAGGTCC	0.632																																							uc001oax.3		NA																	0				ovary(2)	2						c.(1075-1077)CGG>AGG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						82.0	80.0	81.0					11																	64521742		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521742G>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1075C>A	11.37:g.64521742G>T						PYGM_uc001oay.3_Silent_p.R271R	p.R359R	NM_005609	NP_005600	P11217	PYGM_HUMAN			9	1892	-			359					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1075C>A	CCDS8079.1																																																																																				0.632	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		16	65	1	0	2.23348e-06	0.004007	3.05455e-06	16	65				
SF3B2	10992	broad.mit.edu	37	11	65824815	65824815	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:65824815C>T	ENST00000322535.6	+	7	795	c.746C>T	c.(745-747)cCc>cTc	p.P249L	SF3B2_ENST00000528302.1_Missense_Mutation_p.P232L	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	249	Poly-Pro.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTCGTGGTCCCCCACCGCCC	0.527																																							uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(745-747)CCC>CTC		splicing factor 3B subunit 2							56.0	68.0	64.0					11																	65824815		2199	4293	6492	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65824815C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.746C>T	11.37:g.65824815C>T	ENSP00000318861:p.Pro249Leu						p.P249L	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			7	786	+			249			Poly-Pro.		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.746C>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995917	0.74703	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.31	5.31	0.75309	.	0.239796	0.43747	D	0.000529	T	0.54498	0.1862	N	0.14661	0.345	0.45108	D	0.998122	D	0.89917	1.0	D	0.80764	0.994	T	0.59096	-0.7518	9	0.62326	D	0.03	-17.1358	11.8619	0.52471	0.1746:0.8254:0.0:0.0	.	249	Q13435	SF3B2_HUMAN	L	232;249;247;248;243	.	ENSP00000318861:P249L	P	+	2	0	SF3B2	65581391	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.884000	0.48562	2.643000	0.89663	0.650000	0.86243	CCC		0.527	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			8	139	0	0	0	0.00308	0	8	139				
CTSF	8722	broad.mit.edu	37	11	66335045	66335045	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:66335045G>A	ENST00000310325.5	-	3	510	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	134					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCTCCCCAGCACCTGGAAC	0.557																																							uc001oip.2		NA																	0					0						c.(400-402)GCT>GTT		cathepsin F precursor							107.0	109.0	108.0					11																	66335045		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335045G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.401C>T	11.37:g.66335045G>A	ENSP00000310832:p.Ala134Val						p.A134V	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	491	-			134					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.401C>T	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750856	0.49257	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.72167	-0.63;0.79	3.61	3.61	0.41365	.	.	.	.	.	T	0.69333	0.3099	N	0.14661	0.345	0.27383	N	0.955355	D	0.76494	0.999	D	0.75484	0.986	T	0.58842	-0.7565	9	0.29301	T	0.29	.	11.0744	0.48023	0.0:0.0:1.0:0.0	.	134	Q9UBX1	CATF_HUMAN	V	134;42	ENSP00000310832:A134V;ENSP00000435822:A42V	ENSP00000310832:A134V	A	-	2	0	CTSF	66091621	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.325000	0.43840	2.326000	0.78906	0.462000	0.41574	GCT		0.557	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		21	89	0	0	0	0.002299	0	21	89				
PPP6R3	55291	broad.mit.edu	37	11	68370837	68370837	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:68370837G>C	ENST00000393800.2	+	22	2581	c.2327G>C	c.(2326-2328)aGc>aCc	p.S776T	PPP6R3_ENST00000393801.3_Missense_Mutation_p.S776T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S544T|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S730T|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S776T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S696T|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S741T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S747T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S770T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S696T	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	776					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATGGAAGCCAGCTCTGACGGA	0.537																																							uc001onw.2		NA																	0					0						c.(2326-2328)AGC>ACC		SAPS domain family, member 3 isoform 6							119.0	93.0	102.0					11																	68370837		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68370837G>C	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2327G>C	11.37:g.68370837G>C	ENSP00000377389:p.Ser776Thr					SAPS3_uc001onv.2_Missense_Mutation_p.S776T|SAPS3_uc001ony.3_Missense_Mutation_p.S747T|SAPS3_uc001onx.2_Missense_Mutation_p.S770T|SAPS3_uc009ysh.2_Missense_Mutation_p.S696T|SAPS3_uc001onu.2_Missense_Mutation_p.S696T|SAPS3_uc010rqc.1_Missense_Mutation_p.S544T|SAPS3_uc010rqd.1_Missense_Mutation_p.S459T|SAPS3_uc001onz.2_Missense_Mutation_p.S104T|SAPS3_uc001ooa.2_Missense_Mutation_p.S226T	p.S776T	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		22	2594	+			776					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2327G>C	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080463	0.36662	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.18	4.21	0.49690	.	0.628969	0.18210	N	0.148235	T	0.35595	0.0937	L	0.38175	1.15	0.33804	D	0.627039	B;B;B;B;B;B;B;B	0.11235	0.003;0.0;0.0;0.004;0.002;0.001;0.0;0.0	B;B;B;B;B;B;B;B	0.14578	0.006;0.0;0.008;0.011;0.011;0.007;0.005;0.004	T	0.37337	-0.9710	10	0.14656	T	0.56	.	12.2552	0.54619	0.0:0.1357:0.7408:0.1235	.	459;544;696;747;770;776;776;696	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	T	776;776;544;747;730;770;776;696;696;741;483	ENSP00000377388:S776T;ENSP00000377389:S776T;ENSP00000434429:S544T;ENSP00000431415:S747T;ENSP00000265637:S730T;ENSP00000433058:S770T;ENSP00000377390:S776T;ENSP00000265636:S696T;ENSP00000437329:S696T;ENSP00000433565:S741T;ENSP00000436209:S483T	ENSP00000265636:S696T	S	+	2	0	PPP6R3	68127413	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.341000	0.52151	2.422000	0.82143	0.655000	0.94253	AGC		0.537	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		19	76	0	0	0	0.007413	0	19	76				
MRGPRD	116512	broad.mit.edu	37	11	68748265	68748265	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:68748265T>C	ENST00000309106.3	-	1	190	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	64						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTGAGGATATAGATGCAGAA	0.587																																							uc010rqf.1		NA																	0				pancreas(1)	1						c.(190-192)TAT>TGT		MAS-related GPR, member D							66.0	68.0	67.0					11																	68748265		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748265T>C	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.191A>G	11.37:g.68748265T>C	ENSP00000310631:p.Tyr64Cys						p.Y64C	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	191	-			64			Helical; Name=2; (Potential).		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.191A>G	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221142	0.58560	.	.	ENSG00000172938	ENST00000309106	T	0.75704	-0.96	5.17	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	U	0.000967	D	0.87791	0.6266	M	0.94101	3.495	0.38256	D	0.941753	D	0.89917	1.0	D	0.97110	1.0	D	0.88397	0.3012	10	0.46703	T	0.11	-20.9087	9.287	0.37764	0.0:0.0868:0.0:0.9132	.	64	Q8TDS7	MRGRD_HUMAN	C	64	ENSP00000310631:Y64C	ENSP00000310631:Y64C	Y	-	2	0	MRGPRD	68504841	0.693000	0.27728	0.005000	0.12908	0.045000	0.14185	0.976000	0.29462	0.808000	0.34231	0.383000	0.25322	TAT		0.587	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		9	40	0	0	0	0.008291	0	9	40				
CTTN	2017	broad.mit.edu	37	11	70253623	70253623	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:70253623G>C	ENST00000301843.8	+	4	293		c.e4-1		CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTTCTTTTCAGAATGATGTGA	0.527																																							uc001opv.3		NA																	0				ovary(1)	1						c.e4-1		cortactin isoform a							74.0	82.0	79.0					11																	70253623		2200	4294	6494	SO:0001630	splice_region_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70253623G>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.88-1G>C	11.37:g.70253623G>C						CTTN_uc001opu.2_Splice_Site_p.N30_splice|CTTN_uc001opw.3_Splice_Site_p.N30_splice	p.N30_splice	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	4	294	+								Q8N707|Q96H99	Splice_Site	SNP	ENST00000301843.8	37	c.88_splice	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283215	0.40394	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6887	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69931271	1.000000	0.71417	0.790000	0.31976	0.327000	0.28475	9.115000	0.94336	2.469000	0.83416	0.655000	0.94253	.		0.527	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	Intron	20	89	0	0	0	0.001523	0	20	89				
NADSYN1	55191	broad.mit.edu	37	11	71164426	71164426	+	Splice_Site	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:71164426G>A	ENST00000319023.2	+	1	272	c.84G>A	c.(82-84)aaG>aaA	p.K28K	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	28	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GAATTTTAAAGAGTGAGTCTG	0.662																																					Ovarian(79;763 1781 6490 50276)	Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NA																	0				ovary(2)	2						c.(82-84)AAG>AAA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						33.0	32.0	33.0					11																	71164426		2200	4294	6494	SO:0001630	splice_region_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71164426G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.85+1G>A	11.37:g.71164426G>A						NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'Flank	p.K28K	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			1	210	+			28			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.84G>A	CCDS8201.1																																																																																				0.662	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	Silent	3	10	0	0	0	0.004672	0	3	10				
C2CD3	26005	broad.mit.edu	37	11	73796749	73796749	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:73796749T>C	ENST00000334126.7	-	21	4050	c.3824A>G	c.(3823-3825)cAc>cGc	p.H1275R	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1275R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1275	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCACTACAGTGCTGAGTCAC	0.498																																							uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(3823-3825)CAC>CGC		C2 calcium-dependent domain containing 3							82.0	74.0	77.0					11																	73796749		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73796749T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3824A>G	11.37:g.73796749T>C	ENSP00000334379:p.His1275Arg					C2CD3_uc001out.2_RNA	p.H1275R	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			21	4051	-	Breast(11;4.16e-06)		1275			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3824A>G		.	.	.	.	.	.	.	.	.	.	T	4.024	0.001875	0.07819	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.37752	1.18;1.18;1.18	5.95	2.48	0.30137	.	0.497461	0.22121	N	0.064328	T	0.13628	0.0330	N	0.05124	-0.11	0.28060	N	0.933029	B	0.10296	0.003	B	0.13407	0.009	T	0.30707	-0.9969	10	0.02654	T	1	-2.4955	8.2257	0.31568	0.0:0.326:0.0:0.6739	.	1275	Q4AC94-1	.	R	1275;1275;1275;83	ENSP00000334379:H1275R;ENSP00000323339:H1275R;ENSP00000388750:H83R	ENSP00000323339:H1275R	H	-	2	0	C2CD3	73474397	0.227000	0.23707	0.999000	0.59377	0.997000	0.91878	0.609000	0.24238	1.075000	0.40932	0.533000	0.62120	CAC		0.498	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		11	38	0	0	0	0.000978	0	11	38				
CCDC83	220047	broad.mit.edu	37	11	85630410	85630410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:85630410C>A	ENST00000342404.3	+	11	1315	c.1099C>A	c.(1099-1101)Ccc>Acc	p.P367T	CCDC83_ENST00000280245.4_Missense_Mutation_p.P398T|CCDC83_ENST00000376067.1_Missense_Mutation_p.P267T|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAACTTGGGCCCCCTGGGAGT	0.408																																							uc001pbh.1		NA																	0				skin(1)	1						c.(1099-1101)CCC>ACC		coiled-coil domain containing 83							130.0	126.0	128.0					11																	85630410		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85630410C>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1099C>A	11.37:g.85630410C>A	ENSP00000344512:p.Pro367Thr					CCDC83_uc001pbg.1_Missense_Mutation_p.P398T|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.P267T	p.P367T	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			11	1611	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	367					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.1099C>A		.	.	.	.	.	.	.	.	.	.	C	18.83	3.707669	0.68615	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.45668	0.89;0.89;0.89	5.62	4.7	0.59300	.	0.083447	0.52532	D	0.000066	T	0.62208	0.2409	M	0.81239	2.535	0.38898	D	0.957263	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72982	0.979;0.932;0.951	T	0.65747	-0.6093	9	.	.	.	-11.6947	9.7788	0.40637	0.0:0.9083:0.0:0.0917	.	267;367;398	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	T	398;267;367	ENSP00000280245:P398T;ENSP00000365235:P267T;ENSP00000344512:P367T	.	P	+	1	0	CCDC83	85308058	0.431000	0.25546	1.000000	0.80357	0.861000	0.49209	2.272000	0.43373	2.822000	0.97130	0.650000	0.86243	CCC		0.408	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		25	58	1	0	8.58068e-18	0.007291	1.60723e-17	25	58				
GRM5	2915	broad.mit.edu	37	11	88780897	88780897	+	Silent	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:88780897A>C	ENST00000305447.4	-	1	293	c.144T>G	c.(142-144)acT>acG	p.T48T	GRM5_ENST00000393297.1_Silent_p.T48T|GRM5_ENST00000455756.2_Silent_p.T48T|GRM5_ENST00000418177.2_Silent_p.T48T|GRM5_ENST00000305432.5_Silent_p.T48T|GRM5_ENST00000393294.3_Silent_p.T48T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	48					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTTGTCCACAGTAGGCTGGT	0.527																																							uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(142-144)ACT>ACG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						68.0	62.0	64.0					11																	88780897		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780897A>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.144T>G	11.37:g.88780897A>C						GRM5_uc009yvm.2_Silent_p.T48T|GRM5_uc009yvn.1_Silent_p.T48T	p.T48T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	344	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	48			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.144T>G	CCDS44694.1																																																																																				0.527	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		15	39	0	0	0	0.006122	0	15	39				
FOLH1B	219595	broad.mit.edu	37	11	89409322	89409322	+	RNA	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:89409322A>T	ENST00000532352.1	+	0	1247							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTAATGCTGACTCATCTATA	0.373																																							uc001pda.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(433-435)GAC>GTC		folate hydrolase 1B							97.0	98.0	98.0					11																	89409322		2201	4297	6498			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89409322A>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409322A>T							p.D145V	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			7	960	+			145				Zinc 2 (By similarity).		Missense_Mutation	SNP	ENST00000532352.1	37	c.434A>T																																																																																					0.373	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		15	62	0	0	0	0.00499	0	15	62				
TRIM49C	642612	broad.mit.edu	37	11	89774425	89774425	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:89774425G>T	ENST00000448984.1	+	8	1395	c.1066G>T	c.(1066-1068)Ggt>Tgt	p.G356C	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						TTGGGCTTTTGGTGTCTGTAA	0.433																																							uc010rua.1		NA																	0					NA						c.(1066-1068)GGT>TGT		ring finger protein 18																																				SO:0001583	missense	0							g.chr11:89774425G>T	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1066G>T	11.37:g.89774425G>T	ENSP00000388299:p.Gly356Cys						p.G356C	NM_020358	NP_065091					7	1189	+								A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.1066G>T	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448144	0.26074	.	.	ENSG00000204449	ENST00000448984	D	0.99201	-5.55	0.823	-0.439	0.12264	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.99339	0.9768	H	0.96970	3.915	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96247	0.9180	8	.	.	.	.	4.7329	0.12974	0.0:0.4735:0.5265:0.0	.	356	P0CI26	T49L2_HUMAN	C	356	ENSP00000388299:G356C	.	G	+	1	0	TRIM49L2	89414073	0.114000	0.22134	0.005000	0.12908	0.153000	0.21895	1.010000	0.29898	-0.152000	0.11156	0.305000	0.20034	GGT		0.433	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		18	34	1	0	2.48551e-13	0.00499	4.31828e-13	18	34				
FAT3	120114	broad.mit.edu	37	11	92087375	92087375	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92087375G>A	ENST00000298047.6	+	1	2114	c.2097G>A	c.(2095-2097)aaG>aaA	p.K699K	FAT3_ENST00000541502.1_Silent_p.K699K|FAT3_ENST00000525166.1_Silent_p.K549K|FAT3_ENST00000409404.2_Silent_p.K699K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	699					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)				TACTCATTAAGGCAAAAGCAA	0.383										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(2095-2097)AAG>AAA		FAT tumor suppressor homolog 3							123.0	125.0	124.0					11																	92087375		1843	4099	5942	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087375G>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.2097G>A	11.37:g.92087375G>A		TCGA Ovarian(4;0.039)					p.K699K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2114	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	699			Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.2097G>A																																																																																					0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		41	104	0	0	0	0.005524	0	41	104				
FAT3	120114	broad.mit.edu	37	11	92498135	92498135	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92498135C>G	ENST00000298047.6	+	5	4092	c.4075C>G	c.(4075-4077)Cca>Gca	p.P1359A	FAT3_ENST00000525166.1_Missense_Mutation_p.P1209A|FAT3_ENST00000409404.2_Missense_Mutation_p.P1359A|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1359	Cadherin 12. {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)				TTCACCTATACCATTGACCTT	0.498										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4075-4077)CCA>GCA		FAT tumor suppressor homolog 3							129.0	124.0	125.0					11																	92498135		1896	4105	6001	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498135C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4075C>G	11.37:g.92498135C>G	ENSP00000298047:p.Pro1359Ala	TCGA Ovarian(4;0.039)					p.P1359A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			5	4092	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1359			Cadherin 12.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4075C>G		.	.	.	.	.	.	.	.	.	.	C	20.5	4.005825	0.74932	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.75938	-0.96;-0.98;-0.96	5.97	5.97	0.96955	.	.	.	.	.	D	0.82623	0.5077	L	0.42529	1.33	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.80034	-0.1551	9	0.40728	T	0.16	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1359	Q8TDW7-3	.	A	1359;1359;1209	ENSP00000298047:P1359A;ENSP00000387040:P1359A;ENSP00000432586:P1209A	ENSP00000298047:P1359A	P	+	1	0	FAT3	92137783	0.997000	0.39634	0.201000	0.23476	0.973000	0.67179	3.748000	0.55142	2.836000	0.97738	0.655000	0.94253	CCA		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	51	0	0	0	0.000978	0	11	51				
FAT3	120114	broad.mit.edu	37	11	92613961	92613961	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92613961C>G	ENST00000298047.6	+	22	12209	c.12192C>G	c.(12190-12192)tgC>tgG	p.C4064W	FAT3_ENST00000533797.1_Missense_Mutation_p.C399W|FAT3_ENST00000525166.1_Missense_Mutation_p.C3914W|FAT3_ENST00000409404.2_Missense_Mutation_p.C4064W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4064	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				TTACAGCCTGCTTCCCAAACC	0.502										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12190-12192)TGC>TGG		FAT tumor suppressor homolog 3							182.0	186.0	185.0					11																	92613961		1936	4121	6057	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92613961C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12192C>G	11.37:g.92613961C>G	ENSP00000298047:p.Cys4064Trp	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.C504W	p.C4064W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			22	12209	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4064			EGF-like 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12192C>G		.	.	.	.	.	.	.	.	.	.	C	18.63	3.665711	0.67700	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.99992	-3.96;-3.96;-3.96;-12.4	6.16	5.26	0.73747	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99992	1.4695	9	0.87932	D	0	.	15.5553	0.76187	0.0:0.9344:0.0:0.0656	.	4064;4064	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	W	4064;4064;3914;399	ENSP00000298047:C4064W;ENSP00000387040:C4064W;ENSP00000432586:C3914W;ENSP00000436399:C399W	ENSP00000298047:C4064W	C	+	3	2	FAT3	92253609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.436000	0.34980	1.628000	0.50416	0.650000	0.86243	TGC		0.502	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		54	164	0	0	0	0.00361	0	54	164				
MRE11A	4361	broad.mit.edu	37	11	94212876	94212876	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:94212876C>A	ENST00000323929.3	-	5	588	c.366G>T	c.(364-366)gtG>gtT	p.V122V	MRE11A_ENST00000393241.4_Silent_p.V122V|MRE11A_ENST00000323977.3_Silent_p.V122V|MRE11A_ENST00000407439.3_Silent_p.V125V|MRE11A_ENST00000540013.1_Silent_p.V122V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	122					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GAATACTAAACACTGGAATTG	0.348								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																														uc001peu.2		NA																	0				breast(4)|lung(1)	5						c.(364-366)GTG>GTT	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							108.0	101.0	103.0					11																	94212876		2201	4298	6499	SO:0001819	synonymous_variant	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94212876C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.366G>T	11.37:g.94212876C>A						MRE11A_uc001pev.2_Silent_p.V122V|MRE11A_uc009ywj.2_Silent_p.V125V	p.V122V	NM_005591	NP_005582	P49959	MRE11_HUMAN			5	555	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	122					O43475	Silent	SNP	ENST00000323929.3	37	c.366G>T	CCDS8299.1																																																																																				0.348	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		15	44	1	0	2.94398e-08	0.007413	4.37364e-08	15	44				
MMP20	9313	broad.mit.edu	37	11	102448108	102448108	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:102448108C>G	ENST00000260228.2	-	10	1413	c.1401G>C	c.(1399-1401)gaG>gaC	p.E467D		NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	492					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CATCTTCCTTCTCTGTGTCAT	0.388																																							uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(1399-1401)GAG>GAC		matrix metalloproteinase 20 preproprotein							212.0	197.0	202.0					11																	102448108		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102448108C>G	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1401G>C	11.37:g.102448108C>G	ENSP00000260228:p.Glu467Asp						p.E467D	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	10	1414	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	467			Hemopexin-like 4.		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.1401G>C	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888403	0.17540	.	.	ENSG00000137674	ENST00000260228	T	0.02812	4.15	5.14	-1.19	0.09585	Hemopexin/matrixin (2);	0.463064	0.25192	N	0.032458	T	0.02267	0.0070	L	0.29908	0.895	0.35262	D	0.779717	B	0.21452	0.056	B	0.26094	0.066	T	0.49072	-0.8977	10	0.12766	T	0.61	.	10.7313	0.46098	0.0:0.3725:0.0:0.6275	.	467	O60882	MMP20_HUMAN	D	467	ENSP00000260228:E467D	ENSP00000260228:E467D	E	-	3	2	MMP20	101953318	0.906000	0.30813	0.815000	0.32552	0.993000	0.82548	-0.270000	0.08584	-0.401000	0.07644	0.557000	0.71058	GAG		0.388	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			4	54	0	0	0	0.000248	0	4	54				
CASP5	838	broad.mit.edu	37	11	104874094	104874094	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:104874094C>A	ENST00000260315.3	-	4	449	c.450G>T	c.(448-450)gaG>gaT	p.E150D	CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.E92D|CASP5_ENST00000393141.2_Missense_Mutation_p.E163D|CASP5_ENST00000526056.1_Missense_Mutation_p.E163D|CASP5_ENST00000531367.1_Missense_Mutation_p.E8D|CASP5_ENST00000418434.1_Missense_Mutation_p.E8D			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	150					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGGTCCAGCCTCGATTTGCA	0.403																																							uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(448-450)GAG>GAT		caspase 5 isoform a precursor							113.0	112.0	112.0					11																	104874094		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104874094C>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.450G>T	11.37:g.104874094C>A	ENSP00000260315:p.Glu150Asp					CASP5_uc010ruz.1_Missense_Mutation_p.E163D|CASP5_uc010rvb.1_Missense_Mutation_p.E92D|CASP5_uc010rvc.1_Missense_Mutation_p.E8D|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.E150D	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	4	482	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	150					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.450G>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241735	0.22711	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367;ENST00000456094	T;T;T;T;T;T;T	0.11930	4.63;4.42;4.63;4.5;4.63;4.42;2.73	4.19	1.23	0.21249	.	1.315560	0.05156	N	0.496902	T	0.12732	0.0309	L	0.44542	1.39	0.09310	N	1	P;P;P;P	0.45531	0.799;0.491;0.86;0.632	B;B;B;B	0.41646	0.275;0.19;0.149;0.362	T	0.28490	-1.0042	10	0.23302	T	0.38	.	5.6392	0.17554	0.0:0.643:0.0:0.357	.	8;92;150;163	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	D	163;8;150;92;163;8;134	ENSP00000376849:E163D;ENSP00000398130:E8D;ENSP00000260315:E150D;ENSP00000388365:E92D;ENSP00000436877:E163D;ENSP00000434471:E8D;ENSP00000415241:E134D	ENSP00000260315:E150D	E	-	3	2	CASP5	104379304	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.804000	0.04535	0.358000	0.24211	0.404000	0.27445	GAG		0.403	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		25	104	1	0	2.12542e-12	0.00632	3.595e-12	25	104				
PPP2R1B	5519	broad.mit.edu	37	11	111623033	111623033	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:111623033G>C	ENST00000527614.1	-	10	1253	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I269M|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I351M|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I235M|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I396M|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I332M	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	396					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AATTGGAGATGATATTCAAAC	0.448																																							uc001plx.1		NA																	0					0						c.(1186-1188)ATC>ATG		beta isoform of regulatory subunit A, protein							98.0	89.0	92.0					11																	111623033		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111623033G>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1188C>G	11.37:g.111623033G>C	ENSP00000437193:p.Ile396Met					PPP2R1B_uc001plw.1_Missense_Mutation_p.I396M|PPP2R1B_uc010rwi.1_Missense_Mutation_p.I332M|PPP2R1B_uc010rwj.1_Missense_Mutation_p.I235M|PPP2R1B_uc010rwk.1_Missense_Mutation_p.I351M|PPP2R1B_uc010rwl.1_Missense_Mutation_p.I269M	p.I396M	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	10	1272	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	396			HEAT 10.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1188C>G	CCDS8349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.55|15.55	2.866556|2.866556	0.51588|0.51588	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000531890|ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	.|T;T;T;T;T;T	.|0.34472	.|2.12;2.12;2.12;2.12;1.36;2.12	5.57|5.57	4.62|4.62	0.57501|0.57501	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60209|0.60209	0.2251|0.2251	M|M	0.93016|0.93016	3.37|3.37	0.53688|0.53688	D|D	0.99997|0.99997	.|P;P;P;P;B;P	.|0.51933	.|0.949;0.717;0.473;0.733;0.312;0.743	.|P;B;P;P;B;B	.|0.57324	.|0.814;0.281;0.818;0.7;0.258;0.413	T|T	0.66909|0.66909	-0.5804|-0.5804	5|10	.|0.87932	.|D	.|0	-12.5798|-12.5798	7.8341|7.8341	0.29360|0.29360	0.1975:0.0:0.8025:0.0|0.1975:0.0:0.8025:0.0	.|.	.|269;351;235;332;396;396	.|A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.|.;.;.;.;2AAB_HUMAN;.	D|M	97|396;269;332;396;235;351;269	.|ENSP00000311344:I396M;ENSP00000410671:I332M;ENSP00000437193:I396M;ENSP00000415759:I235M;ENSP00000343317:I351M;ENSP00000376775:I269M	.|ENSP00000311344:I396M	H|I	-|-	1|3	0|3	PPP2R1B|PPP2R1B	111128243|111128243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.799000|3.799000	0.55529|0.55529	1.392000|1.392000	0.46585|0.46585	0.643000|0.643000	0.83706|0.83706	CAT|ATC		0.448	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		3	71	0	0	0	0.000248	0	3	71				
HSPB2	3316	broad.mit.edu	37	11	111784584	111784584	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:111784584G>A	ENST00000304298.3	+	2	1102	c.514G>A	c.(514-516)Gag>Aag	p.E172K	CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000533475.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.E172K|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	172					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TCCTGATCCAGAGGAAGAGGA	0.572																																							uc001pmg.2		NA																	0				ovary(2)|skin(1)	3						c.(514-516)GAG>AAG		heat shock 27kDa protein 2							32.0	32.0	32.0					11																	111784584		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784584G>A	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.514G>A	11.37:g.111784584G>A	ENSP00000302476:p.Glu172Lys					CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	p.E172K	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	608	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	172					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.514G>A	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816067	0.32145	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.89343	-2.5;-2.5	5.37	5.37	0.77165	.	0.338377	0.27654	N	0.018401	T	0.76821	0.4041	N	0.08118	0	0.36914	D	0.891023	B	0.21688	0.059	B	0.10450	0.005	T	0.74182	-0.3748	10	0.12766	T	0.61	-6.1544	14.97	0.71226	0.0:0.0:1.0:0.0	.	172	Q16082	HSPB2_HUMAN	K	172	ENSP00000302476:E172K;ENSP00000445585:E172K	ENSP00000302476:E172K	E	+	1	0	HSPB2	111289794	0.962000	0.33011	0.998000	0.56505	0.996000	0.88848	2.165000	0.42396	2.684000	0.91462	0.650000	0.86243	GAG		0.572	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			6	28	0	0	0	0.001984	0	6	28				
HTR3B	9177	broad.mit.edu	37	11	113813800	113813800	+	Missense_Mutation	SNP	C	C	T	rs138362802	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:113813800C>T	ENST00000260191.2	+	7	1050	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P254S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	265					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CTACCTGCCACCCAACTGCCG	0.582																																							uc001pok.2		NA																	0					0						c.(793-795)CCC>TCC		5-hydroxytryptamine (serotonin) receptor 3B							107.0	84.0	92.0					11																	113813800		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813800C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.793C>T	11.37:g.113813800C>T	ENSP00000260191:p.Pro265Ser					HTR3B_uc001pol.2_Missense_Mutation_p.P254S	p.P265S	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	860	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	265			Cytoplasmic (Potential).		B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.793C>T	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227207	0.58668	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.83837	-1.77;-1.77	5.41	3.48	0.39840	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.260277	0.38837	N	0.001543	D	0.85186	0.5639	M	0.63208	1.945	0.46954	D	0.999262	P;P	0.49090	0.919;0.642	P;B	0.60949	0.881;0.42	T	0.81863	-0.0737	10	0.02654	T	1	-6.3748	12.2527	0.54608	0.1352:0.735:0.1298:0.0	.	254;265	O95264-2;O95264	.;5HT3B_HUMAN	S	265;254	ENSP00000260191:P265S;ENSP00000443118:P254S	ENSP00000260191:P265S	P	+	1	0	HTR3B	113319010	0.994000	0.37717	0.522000	0.27862	0.535000	0.34838	3.148000	0.50647	0.618000	0.30179	0.650000	0.86243	CCC		0.582	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		10	39	0	0	0	0.008291	0	10	39				
RBM7	10179	broad.mit.edu	37	11	114270819	114270819	+	5'UTR	SNP	C	C	A	rs1051890		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:114270819C>A	ENST00000540163.1	+	0	68				RBM7_ENST00000375490.5_5'Flank|RBM7_ENST00000544582.1_5'Flank|RP11-212D19.4_ENST00000544347.1_5'Flank|RBM7_ENST00000541475.1_5'Flank|RBM7_ENST00000545678.1_5'Flank|C11orf71_ENST00000325636.4_Missense_Mutation_p.D79Y			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7						meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CCCCGGCCATCTGGTTCCCTT	0.627																																							uc001pou.3		NA																	0					0						c.(235-237)GAT>TAT		hypothetical protein LOC54494							27.0	31.0	30.0					11																	114270819		1881	4108	5989	SO:0001623	5_prime_UTR_variant	54494							g.chr11:114270819C>A	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.-575C>A	11.37:g.114270819C>A						C11orf71_uc001pot.1_Missense_Mutation_p.D79Y|RBM7_uc001pov.2_5'Flank|RBM7_uc001pow.2_5'Flank|RBM7_uc001pox.2_5'Flank	p.D79Y	NM_019021	NP_061894	Q6IPW1	CK071_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)	1	437	-		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	79					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.235G>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921814	0.52653	.	.	ENSG00000180425	ENST00000325636	.	.	.	4.17	2.11	0.27256	.	0.911957	0.09043	N	0.857064	T	0.37544	0.1007	N	0.24115	0.695	0.19575	N	0.999961	D;D	0.64830	0.983;0.994	P;P	0.59889	0.785;0.865	T	0.20571	-1.0271	9	0.72032	D	0.01	-5.3988	5.0135	0.14324	0.0:0.7199:0.0:0.2801	.	79;79	Q6IPW1;Q6IPW1-2	CK071_HUMAN;.	Y	79	.	ENSP00000325508:D79Y	D	-	1	0	C11orf71	113776029	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.240000	0.18042	0.967000	0.38186	0.609000	0.83330	GAT		0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		15	48	1	0	3.27435e-08	0.00245	4.84835e-08	15	48				
NXPE2	120406	broad.mit.edu	37	11	114569052	114569052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:114569052G>T	ENST00000389586.4	+	3	608	c.418G>T	c.(418-420)Gga>Tga	p.G140*	NXPE2_ENST00000375475.5_Nonsense_Mutation_p.G140*	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	140						integral component of membrane (GO:0016021)											GGACCACTTGGGACACAGGAA	0.552																																							uc009yyy.2		NA																	0				ovary(1)	1						c.(418-420)GGA>TGA		hypothetical protein LOC120406							117.0	102.0	106.0					11																	114569052		692	1591	2283	SO:0001587	stop_gained	120406					integral to membrane		g.chr11:114569052G>T	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.418G>T	11.37:g.114569052G>T	ENSP00000374237:p.Gly140*						p.G140*	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			3	516	+			140					Q2NKI8	Nonsense_Mutation	SNP	ENST00000389586.4	37	c.418G>T	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607656	0.66558	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	.	.	.	4.66	2.73	0.32206	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.2815	0.26314	0.0915:0.0:0.7409:0.1675	.	.	.	.	X	140	.	ENSP00000364624:G140X	G	+	1	0	FAM55B	114074262	1.000000	0.71417	0.102000	0.21198	0.412000	0.31113	5.188000	0.65093	0.373000	0.24621	0.591000	0.81541	GGA		0.552	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		8	22	1	0	0.000157383	0.00308	0.000191976	8	22				
APOA1	335	broad.mit.edu	37	11	116706556	116706556	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:116706556C>G	ENST00000236850.4	-	4	1137	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Missense_Mutation_p.E258Q|APOA1_ENST00000375323.1_Missense_Mutation_p.E258Q|APOA1_ENST00000359492.2_Missense_Mutation_p.E258Q|APOA1_ENST00000375329.2_Missense_Mutation_p.E236Q	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	258	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTGTACTCCTCGAGAGCGCTC	0.622																																							uc001ppu.1		NA																	0					0						c.(772-774)GAG>CAG		apolipoprotein A-I preproprotein							38.0	45.0	43.0					11																	116706556		2191	4278	6469	SO:0001583	missense	335				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding	g.chr11:116706556C>G	X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.772G>C	11.37:g.116706556C>G	ENSP00000236850:p.Glu258Gln					APOA1_uc001ppv.1_Missense_Mutation_p.E258Q	p.E258Q	NM_000039	NP_000030	P02647	APOA1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	4	851	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	258			10.|10 X approximate tandem repeats.		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	c.772G>C	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755748	0.69648	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	4.61	4.61	0.57282	.	0.362584	0.22224	U	0.062905	D	0.82572	0.5066	L	0.58101	1.795	0.09310	N	1	D	0.61080	0.989	P	0.61940	0.896	T	0.73344	-0.4012	10	0.37606	T	0.19	-18.5596	11.2808	0.49192	0.0:0.815:0.185:0.0	.	258	P02647	APOA1_HUMAN	Q	258;258;236;258;258	ENSP00000364469:E258Q;ENSP00000352471:E258Q;ENSP00000364478:E236Q;ENSP00000364472:E258Q;ENSP00000236850:E258Q	ENSP00000236850:E258Q	E	-	1	0	APOA1	116211766	0.991000	0.36638	0.043000	0.18650	0.061000	0.15899	4.992000	0.63889	2.227000	0.72691	0.561000	0.74099	GAG		0.622	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		15	93	0	0	0	0.003163	0	15	93				
CEP164	22897	broad.mit.edu	37	11	117234214	117234214	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:117234214G>C	ENST00000278935.3	+	8	904	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	253					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGGTGACTTTGAGTATGAGGT	0.458																																							uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(757-759)GAG>CAG		centrosomal protein 164kDa							86.0	80.0	82.0					11																	117234214		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117234214G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.757G>C	11.37:g.117234214G>C	ENSP00000278935:p.Glu253Gln					CEP164_uc001prb.2_Missense_Mutation_p.E253Q|CEP164_uc010rxk.1_Intron|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_5'Flank	p.E253Q	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	8	904	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	253					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.757G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177734	0.57692	.	.	ENSG00000110274	ENST00000278935;ENST00000375253	T	0.61040	0.14	5.15	5.15	0.70609	.	0.288241	0.24879	N	0.034865	T	0.72078	0.3416	M	0.69823	2.125	0.37434	D	0.914166	P;D	0.61697	0.878;0.99	P;P	0.59487	0.454;0.858	T	0.77835	-0.2440	10	0.54805	T	0.06	-3.205	16.4181	0.83750	0.0:0.0:1.0:0.0	.	253;253	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	Q	253;180	ENSP00000278935:E253Q	ENSP00000278935:E253Q	E	+	1	0	CEP164	116739424	1.000000	0.71417	0.624000	0.29186	0.613000	0.37349	5.770000	0.68873	2.392000	0.81423	0.655000	0.94253	GAG		0.458	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	46	0	0	0	0.000602	0	5	46				
CEP164	22897	broad.mit.edu	37	11	117265697	117265697	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:117265697G>C	ENST00000278935.3	+	22	2969	c.2822G>C	c.(2821-2823)aGa>aCa	p.R941T	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	941	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTCAAGGCCAGATTGGCTCTG	0.522																																							uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2821-2823)AGA>ACA		centrosomal protein 164kDa							135.0	137.0	136.0					11																	117265697		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117265697G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2822G>C	11.37:g.117265697G>C	ENSP00000278935:p.Arg941Thr					CEP164_uc001prb.2_Missense_Mutation_p.R944T|CEP164_uc010rxk.1_Missense_Mutation_p.R915T|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R374T	p.R941T	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	22	2969	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	941			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.2822G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929017	0.34002	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.40225	1.04	4.63	1.55	0.23275	.	0.473189	0.17673	N	0.165899	T	0.25419	0.0618	L	0.31926	0.97	0.27003	N	0.964871	B;B;B;B	0.19583	0.002;0.017;0.017;0.037	B;B;B;B	0.17433	0.003;0.011;0.011;0.018	T	0.16424	-1.0403	10	0.42905	T	0.14	-0.324	1.8537	0.03174	0.1883:0.1566:0.4939:0.1612	.	915;715;941;944	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	T	941;915;822	ENSP00000278935:R941T	ENSP00000278935:R941T	R	+	2	0	CEP164	116770907	0.997000	0.39634	0.777000	0.31699	0.905000	0.53344	1.112000	0.31172	0.024000	0.15214	0.467000	0.42956	AGA		0.522	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		29	99	0	0	0	0.008361	0	29	99				
VPS11	55823	broad.mit.edu	37	11	118952213	118952213	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:118952213T>C	ENST00000300793.6	+	17	2745	c.2703T>C	c.(2701-2703)ttT>ttC	p.F901F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	902					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGACTACTTTGGCAGAGGTG	0.507																																							uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2704-2706)TTT>TTC		vacuolar protein sorting 11							111.0	116.0	115.0					11																	118952213		1999	4173	6172	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118952213T>C	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2703T>C	11.37:g.118952213T>C						VPS11_uc010ryy.1_Silent_p.F748F	p.F902F	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	17	2748	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	902					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2706T>C																																																																																					0.507	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		39	125	0	0	0	0.002522	0	39	125				
PVRL1	5818	broad.mit.edu	37	11	119548513	119548513	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:119548513C>A	ENST00000264025.3	-	3	1015	c.485G>T	c.(484-486)gGg>gTg	p.G162V	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.G162V|PVRL1_ENST00000341398.2_Missense_Mutation_p.G162V	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	162	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTCATCCTGCCCCTTCTTGGC	0.562																																							uc001pwv.2		NA																	0					0						c.(484-486)GGG>GTG		poliovirus receptor-related 1 isoform 1							113.0	87.0	96.0					11																	119548513		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548513C>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.485G>T	11.37:g.119548513C>A	ENSP00000264025:p.Gly162Val					PVRL1_uc001pwu.1_Missense_Mutation_p.G162V|PVRL1_uc001pww.2_Missense_Mutation_p.G162V	p.G162V	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	657	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	162			Extracellular (Potential).|Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.485G>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.243915	0.58995	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.80304	-1.31;-1.36;-1.27	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);	0.203244	0.52532	D	0.000070	D	0.83608	0.5291	L	0.44542	1.39	0.80722	D	1	D;D;D	0.65815	0.991;0.981;0.995	P;P;P	0.57101	0.68;0.713;0.813	T	0.82472	-0.0440	9	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	162;162;162	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	V	162	ENSP00000344974:G162V;ENSP00000264025:G162V;ENSP00000345289:G162V	.	G	-	2	0	PVRL1	119053723	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.514000	0.67043	2.509000	0.84616	0.556000	0.70494	GGG		0.562	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			7	25	1	0	1.12685e-05	0.004482	1.48953e-05	7	25				
OR10G8	219869	broad.mit.edu	37	11	123900548	123900548	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:123900548T>G	ENST00000431524.1	+	1	252	c.219T>G	c.(217-219)acT>acG	p.T73T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	73						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTTCTCCACTGTCACGGTGC	0.512																																							uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(217-219)ACT>ACG		olfactory receptor, family 10, subfamily G,							245.0	199.0	215.0					11																	123900548		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900548T>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.219T>G	11.37:g.123900548T>G							p.T73T	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	219	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	73			Helical; Name=2; (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.219T>G	CCDS31704.1																																																																																				0.512	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		31	112	0	0	0	0.001786	0	31	112				
OR8B12	219858	broad.mit.edu	37	11	124413387	124413387	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:124413387T>A	ENST00000306842.2	-	1	188	c.164A>T	c.(163-165)cAc>cTc	p.H55L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	55						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CATGGGAGTGTGCAGGTGAGA	0.478																																							uc010sam.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(163-165)CAC>CTC		olfactory receptor, family 8, subfamily B,							85.0	82.0	83.0					11																	124413387		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413387T>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.164A>T	11.37:g.124413387T>A	ENSP00000307159:p.His55Leu						p.H55L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	164	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	55			Helical; Name=2; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.164A>T	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910457	0.52439	.	.	ENSG00000170953	ENST00000306842	T	0.15952	2.38	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.42223	0.1193	H	0.97758	4.07	0.35189	D	0.773215	P	0.45428	0.858	P	0.49597	0.616	T	0.64275	-0.6446	10	0.87932	D	0	.	7.3204	0.26523	0.0:0.104:0.0:0.896	.	55	Q8NGG6	OR8BC_HUMAN	L	55	ENSP00000307159:H55L	ENSP00000307159:H55L	H	-	2	0	OR8B12	123918597	1.000000	0.71417	0.931000	0.37212	0.492000	0.33523	5.591000	0.67536	1.940000	0.56252	0.528000	0.53228	CAC		0.478	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			20	75	0	0	0	0.001882	0	20	75				
OR8A1	390275	broad.mit.edu	37	11	124440912	124440912	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:124440912C>A	ENST00000284287.3	+	1	1020	c.948C>A	c.(946-948)gcC>gcA	p.A316A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	316					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TAAAGGCTGCCGTGCAGAAAA	0.438																																							uc010san.1		NA																	0				ovary(1)	1						c.(946-948)GCC>GCA		olfactory receptor, family 8, subfamily A,							66.0	59.0	61.0					11																	124440912		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440912C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.948C>A	11.37:g.124440912C>A							p.A316A	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	948	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	316			Cytoplasmic (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.948C>A	CCDS31712.1																																																																																				0.438	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		31	56	1	0	7.11191e-15	0.002836	1.27012e-14	31	56				
PATE1	160065	broad.mit.edu	37	11	125618581	125618581	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:125618581A>T	ENST00000305738.5	+	5	346	c.334A>T	c.(334-336)Aac>Tac	p.N112Y	PATE1_ENST00000437148.2_Missense_Mutation_p.N100Y	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	112						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CTATTTGGTGAACTTCAGGTG	0.488																																							uc001qct.2		NA																	0					0						c.(334-336)AAC>TAC		expressed in prostate and testis precursor							189.0	157.0	168.0					11																	125618581		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125618581A>T	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.334A>T	11.37:g.125618581A>T	ENSP00000307164:p.Asn112Tyr					PATE1_uc009zbr.2_Missense_Mutation_p.N100Y	p.N112Y	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN			5	346	+			112					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.334A>T	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	A	9.569	1.120407	0.20877	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.26810	1.71;1.71	4.07	-2.56	0.06268	.	1.305210	0.05382	N	0.537455	T	0.23014	0.0556	L	0.34521	1.04	0.09310	N	1	P;P	0.50528	0.891;0.936	P;P	0.48141	0.568;0.568	T	0.24764	-1.0151	10	0.72032	D	0.01	-12.2514	4.3853	0.11314	0.4116:0.0:0.4185:0.17	.	100;112	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	Y	112;100	ENSP00000307164:N112Y;ENSP00000396056:N100Y	ENSP00000307164:N112Y	N	+	1	0	PATE1	125123791	0.017000	0.18338	0.002000	0.10522	0.080000	0.17528	0.157000	0.16402	-0.491000	0.06697	0.528000	0.53228	AAC		0.488	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		22	77	0	0	0	0.00333	0	22	77				
KCNJ1	3758	broad.mit.edu	37	11	128709201	128709201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128709201G>T	ENST00000392664.2	-	2	1111	c.995C>A	c.(994-996)aCa>aAa	p.T332K	KCNJ1_ENST00000440599.2_Missense_Mutation_p.T313K|KCNJ1_ENST00000392665.2_Missense_Mutation_p.T313K|KCNJ1_ENST00000392666.1_Missense_Mutation_p.T313K|KCNJ1_ENST00000324036.3_Missense_Mutation_p.T313K	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	332					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CCCTTCCTTTGTCTTGGATAC	0.498																																							uc001qeo.1		NA																	0				ovary(3)|breast(1)	4						c.(994-996)ACA>AAA		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						90.0	87.0	88.0					11																	128709201		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709201G>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.995C>A	11.37:g.128709201G>T	ENSP00000376432:p.Thr332Lys					KCNJ1_uc001qep.1_Missense_Mutation_p.T313K|KCNJ1_uc001qeq.1_Missense_Mutation_p.T313K|KCNJ1_uc001qer.1_Missense_Mutation_p.T313K|KCNJ1_uc001qes.1_Missense_Mutation_p.T313K	p.T332K	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1046	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	332			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.995C>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224837	0.58668	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.43	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.144057	0.64402	D	0.000008	D	0.89622	0.6768	L	0.31120	0.905	0.49483	D	0.999798	D	0.54601	0.967	P	0.60949	0.881	D	0.85369	0.1112	10	0.11485	T	0.65	.	19.6914	0.96002	0.0:0.0:1.0:0.0	.	332	P48048	IRK1_HUMAN	K	313;313;313;313;332	ENSP00000376433:T313K;ENSP00000376434:T313K;ENSP00000406320:T313K;ENSP00000316233:T313K;ENSP00000376432:T332K	ENSP00000316233:T313K	T	-	2	0	KCNJ1	128214411	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.126000	0.71635	2.644000	0.89710	0.563000	0.77884	ACA		0.498	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		20	32	1	0	1.56452e-12	0.007413	2.64963e-12	20	32				
KCNJ5	3762	broad.mit.edu	37	11	128781254	128781254	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128781254C>A	ENST00000338350.4	+	3	438	c.86C>A	c.(85-87)gCc>gAc	p.A29D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.A29D|KCNJ5_ENST00000529694.1_Missense_Mutation_p.A29D			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	29					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCAAAACAGGCCCGCGATTAT	0.572																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(85-87)GCC>GAC		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						78.0	81.0	80.0					11																	128781254		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781254C>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.86C>A	11.37:g.128781254C>A	ENSP00000339960:p.Ala29Asp					KCNJ5_uc009zck.2_Missense_Mutation_p.A29D|KCNJ5_uc001qew.2_Missense_Mutation_p.A29D	p.A29D	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	400	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	29			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.86C>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731177	0.69189	.	.	ENSG00000120457	ENST00000533356;ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.89552	-2.53;-2.53;-2.53	5.79	4.88	0.63580	.	.	.	.	.	D	0.89705	0.6792	L	0.50333	1.59	0.37257	D	0.906812	D	0.55605	0.972	P	0.52598	0.703	D	0.91150	0.4952	9	0.52906	T	0.07	.	14.2748	0.66173	0.0:0.9293:0.0:0.0707	.	29	P48544	IRK5_HUMAN	D	29	ENSP00000433295:A29D;ENSP00000339960:A29D;ENSP00000434266:A29D	ENSP00000339960:A29D	A	+	2	0	KCNJ5	128286464	0.993000	0.37304	1.000000	0.80357	0.635000	0.38103	2.900000	0.48687	2.731000	0.93534	0.650000	0.86243	GCC		0.572	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		14	63	1	0	4.3838e-07	0.001855	6.19079e-07	14	63				
KCNJ5	3762	broad.mit.edu	37	11	128786491	128786491	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128786491G>A	ENST00000338350.4	+	4	1477	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	KCNJ5_ENST00000533599.1_Silent_p.R375R|KCNJ5_ENST00000529694.1_Silent_p.R375R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	375					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGGAAGGCCGGCTCCTCCAGT	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(1123-1125)CGG>CGA		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						65.0	67.0	66.0					11																	128786491		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786491G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1125G>A	11.37:g.128786491G>A						KCNJ5_uc009zck.2_Silent_p.R375R|KCNJ5_uc001qew.2_Silent_p.R375R	p.R375R	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1439	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	375			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1125G>A	CCDS8479.1																																																																																				0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		11	64	0	0	0	0.001368	0	11	64				
ST14	6768	broad.mit.edu	37	11	130069888	130069888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:130069888G>T	ENST00000278742.5	+	16	2268	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	617	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGTGTTGTTGGGGGCACGGAT	0.612																																							uc001qfw.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1849-1851)GGG>GTG		matriptase	Urokinase(DB00013)						80.0	73.0	75.0					11																	130069888		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130069888G>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1850G>T	11.37:g.130069888G>T	ENSP00000278742:p.Gly617Val						p.G617V	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	16	2043	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	617			Extracellular (Potential).|Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.1850G>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497698	0.85069	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.95724	-3.79	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38720	N	0.001590	D	0.98607	0.9534	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99556	1.0967	10	0.87932	D	0	.	19.0319	0.92960	0.0:0.0:1.0:0.0	.	617	Q9Y5Y6	ST14_HUMAN	V	617;519	ENSP00000278742:G617V	ENSP00000278742:G617V	G	+	2	0	ST14	129575098	1.000000	0.71417	0.924000	0.36721	0.610000	0.37248	9.787000	0.99055	2.599000	0.87857	0.655000	0.94253	GGG		0.612	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			11	50	1	0	1.08611e-07	0.000978	1.56675e-07	11	50				
FBXL14	144699	broad.mit.edu	37	12	1702803	1702803	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:1702803C>T	ENST00000339235.3	-	1	528	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	144					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			ACCTCCAGGCCCTTGAGGTAC	0.622																																							uc001qjh.2		NA																	0				ovary(1)	1						c.(430-432)GGC>AGC		F-box and leucine-rich repeat protein 14							59.0	53.0	55.0					12																	1702803		2203	4300	6503	SO:0001583	missense	144699					cytoplasm		g.chr12:1702803C>T	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.430G>A	12.37:g.1702803C>T	ENSP00000344855:p.Gly144Ser					WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Missense_Mutation_p.G56S	p.G144S	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	529	-	Ovarian(42;0.107)		144			LRR 1.			Missense_Mutation	SNP	ENST00000339235.3	37	c.430G>A	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	C	7.269	0.606790	0.14002	.	.	ENSG00000171823	ENST00000339235	T	0.02050	4.48	4.34	4.34	0.51931	.	0.126167	0.53938	D	0.000046	T	0.01730	0.0055	N	0.04959	-0.14	0.45580	D	0.998525	B	0.19583	0.037	B	0.18871	0.023	T	0.63359	-0.6655	10	0.33141	T	0.24	.	16.6349	0.85050	0.0:1.0:0.0:0.0	.	144	Q8N1E6	FXL14_HUMAN	S	144	ENSP00000344855:G144S	ENSP00000344855:G144S	G	-	1	0	FBXL14	1573064	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.628000	0.54259	2.224000	0.72417	0.557000	0.71058	GGC		0.622	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	67	0	0	0	0.000248	0	4	67				
CACNA1C	775	broad.mit.edu	37	12	2742805	2742805	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:2742805G>T	ENST00000347598.4	+	31	3899	c.3899G>T	c.(3898-3900)aGt>aTt	p.S1300I	CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399601.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1300					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTACTTTAGTGATCCCTGG	0.443																																							uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(3898-3900)AGT>ATT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						207.0	175.0	185.0					12																	2742805		1568	3582	5150	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2742805G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3899G>T	12.37:g.2742805G>T	ENSP00000266376:p.Ser1300Ile					CACNA1C_uc009zdv.1_Missense_Mutation_p.S1277I|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1300I|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qks.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qki.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkm.1_Intron	p.S1300I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	31	4212	+			1300			Cytoplasmic (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3899G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002246	0.35320	.	.	ENSG00000151067	ENST00000399644;ENST00000399638;ENST00000399597;ENST00000347598;ENST00000399629;ENST00000402845;ENST00000399603;ENST00000399617;ENST00000406454	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.28;-4.99;-4.28;-4.28;-4.99;-4.99;-4.99;-4.99	5.16	4.21	0.49690	.	.	.	.	.	D	0.95956	0.8683	L	0.39085	1.19	0.58432	D	0.999997	B;B;B;B;B;B;B;B;B;B;B	0.27416	0.026;0.178;0.008;0.015;0.008;0.008;0.003;0.008;0.012;0.01;0.004	B;B;B;B;B;B;B;B;B;B;B	0.28385	0.022;0.089;0.041;0.022;0.054;0.048;0.005;0.054;0.017;0.061;0.008	D	0.95133	0.8257	9	0.66056	D	0.02	.	14.4234	0.67200	0.0:0.0:0.8519:0.1481	.	1277;1300;1280;1280;1280;1280;1280;1300;1280;1280;1280	Q13936-35;Q13936;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-11;E9PDJ1;E9PDJ0;F5GY28	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.	I	1280;1280;1280;1300;1280;1280;1280;1280;1280	ENSP00000382552:S1280I;ENSP00000382547:S1280I;ENSP00000382506:S1280I;ENSP00000266376:S1300I;ENSP00000382537:S1280I;ENSP00000385724:S1280I;ENSP00000382512:S1280I;ENSP00000382526:S1280I;ENSP00000385896:S1280I	ENSP00000266376:S1300I	S	+	2	0	CACNA1C	2613066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.926000	0.87569	2.418000	0.82041	0.561000	0.74099	AGT		0.443	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		16	100	1	0	1.5739e-10	0.004007	2.54668e-10	16	100				
NRIP2	83714	broad.mit.edu	37	12	2936794	2936794	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:2936794G>C	ENST00000337508.4	-	5	790	c.750C>G	c.(748-750)ctC>ctG	p.L250L	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	250					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCTTACCTTGAGAGAAAGCA	0.507																																							uc001qlc.2		NA																	0				ovary(1)	1						c.(748-750)CTC>CTG		nuclear receptor interacting protein 2							193.0	197.0	196.0					12																	2936794		2203	4300	6503	SO:0001819	synonymous_variant	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2936794G>C	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.750C>G	12.37:g.2936794G>C						ITFG2_uc010sec.1_Intron|NRIP2_uc010sed.1_Silent_p.L250L	p.L250L	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	822	-			250					A2RRE3|B4DV61	Silent	SNP	ENST00000337508.4	37	c.750C>G	CCDS8514.1																																																																																				0.507	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		5	255	0	0	0	0.001984	0	5	255				
PRMT8	56341	broad.mit.edu	37	12	3702309	3702309	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:3702309G>C	ENST00000382622.3	+	10	1536	c.1146G>C	c.(1144-1146)ctG>ctC	p.L382L	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.L373L	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	382	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGGGACAGCTGTGTGAAACAT	0.517																																							uc001qmf.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1144-1146)CTG>CTC		HMT1 hnRNP methyltransferase-like 4							105.0	88.0	94.0					12																	3702309		2203	4300	6503	SO:0001819	synonymous_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3702309G>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1146G>C	12.37:g.3702309G>C						PRMT8_uc009zed.2_Silent_p.L373L|PRMT8_uc001qmg.2_Silent_p.L196L|PRMT8_uc001qmh.2_RNA	p.L382L	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		10	1513	+			382					B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	c.1146G>C	CCDS8521.2																																																																																				0.517	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		7	28	0	0	0	0.001984	0	7	28				
SCNN1A	6337	broad.mit.edu	37	12	6458494	6458494	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:6458494T>A	ENST00000228916.2	-	9	1536	c.1438A>T	c.(1438-1440)Agc>Tgc	p.S480C	SCNN1A_ENST00000360168.3_Splice_Site_p.S539C|SCNN1A_ENST00000540037.1_Splice_Site_p.S180C|SCNN1A_ENST00000358945.3_Splice_Site_p.S502C|SCNN1A_ENST00000396966.2_Splice_Site_p.R480W|SCNN1A_ENST00000543768.1_Splice_Site_p.S503C	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	480					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GACACTAACCTGCATGGCTTC	0.547																																							uc001qnx.2		NA																	0					0						c.(1438-1440)AGC>TGC		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						71.0	62.0	65.0					12																	6458494		2203	4300	6503	SO:0001630	splice_region_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6458494T>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1439+1A>T	12.37:g.6458494T>A						SCNN1A_uc001qnv.2_Missense_Mutation_p.S180C|SCNN1A_uc001qnw.2_Missense_Mutation_p.S539C|SCNN1A_uc010sfb.1_Missense_Mutation_p.S503C	p.S480C	NM_001038	NP_001029	P37088	SCNNA_HUMAN			9	1727	-			480			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1438A>T	CCDS8543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.82|14.82	2.649867|2.649867	0.47362|0.47362	.|.	.|.	ENSG00000111319|ENSG00000111319	ENST00000396966|ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T|T;T;T;T;T	0.64085|0.64803	-0.08|-0.12;-0.12;-0.12;-0.12;-0.12	5.1|5.1	2.66|2.66	0.31614|0.31614	.|.	.|0.814093	.|0.11407	.|N	.|0.567202	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.80847|0.80847	2.515|2.515	0.28004|0.28004	N|N	0.935157|0.935157	.|B;B;B	.|0.14805	.|0.011;0.011;0.005	.|B;B;B	.|0.16289	.|0.015;0.01;0.012	T|T	0.57093|0.57093	-0.7870|-0.7870	7|10	0.52906|0.52906	T|T	0.07|0.07	-9.3129|-9.3129	5.4369|5.4369	0.16486|0.16486	0.1563:0.0:0.3012:0.5425|0.1563:0.0:0.3012:0.5425	.|.	.|503;480;539	.|B4E2Q5;P37088;P37088-2	.|.;SCNNA_HUMAN;.	W|C	480|539;502;180;480;503	ENSP00000380166:R480W|ENSP00000353292:S539C;ENSP00000351825:S502C;ENSP00000440876:S180C;ENSP00000228916:S480C;ENSP00000438739:S503C	ENSP00000380166:R480W|ENSP00000228916:S480C	R|S	-|-	1|1	2|0	SCNN1A|SCNN1A	6328755|6328755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.783000|0.783000	0.26802|0.26802	2.067000|2.067000	0.61834|0.61834	0.515000|0.515000	0.50301|0.50301	AGG|AGC		0.547	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		Missense_Mutation	6	13	0	0	0	0.001168	0	6	13				
AICDA	57379	broad.mit.edu	37	12	8759494	8759494	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:8759494G>C	ENST00000229335.6	-	2	226	c.123C>G	c.(121-123)tcC>tcG	p.S41S	AICDA_ENST00000537228.1_Silent_p.S41S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	41	Important for interaction with CTNNBL1.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCAGTGAAAAGGATGTAGCAC	0.463																																					GBM(62;896 1067 5527 26594 30137)	GBM(62;896 1067 5527 26594 30137)	uc001qur.2		NA																	0				ovary(1)|pancreas(1)	2						c.(121-123)TCC>TCG		activation-induced cytidine deaminase							91.0	88.0	89.0					12																	8759494		1978	4153	6131	SO:0001819	synonymous_variant	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8759494G>C	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.123C>G	12.37:g.8759494G>C						AICDA_uc001qup.1_Silent_p.S36S|AICDA_uc001quq.1_Silent_p.S36S|AICDA_uc009zgd.1_RNA	p.S41S	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			2	202	-	Lung SC(5;0.184)		41					Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	c.123C>G	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021173	0.19433	.	.	ENSG00000111732	ENST00000543081;ENST00000544516;ENST00000545512	.	.	.	5.36	4.46	0.54185	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56721	-0.7932	4	.	.	.	-38.1783	9.1312	0.36846	0.0802:0.0:0.7751:0.1447	.	.	.	.	R	40	.	.	P	-	2	0	AICDA	8650761	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.093000	0.30939	2.505000	0.84491	0.467000	0.42956	CCT		0.463	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		4	52	0	0	0	0.000248	0	4	52				
PZP	5858	broad.mit.edu	37	12	9354948	9354948	+	Silent	SNP	G	G	T	rs143334338		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:9354948G>T	ENST00000261336.2	-	4	475	c.447C>A	c.(445-447)tcC>tcA	p.S149S	PZP_ENST00000381997.2_Silent_p.S18S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	149					female pregnancy (GO:0007565)|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)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCATCCACGGAGACAACAC	0.453																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(445-447)TCC>TCA		pregnancy-zone protein precursor							93.0	82.0	86.0					12																	9354948		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9354948G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.447C>A	12.37:g.9354948G>T						PZP_uc009zgl.2_Silent_p.S18S	p.S149S	NM_002864	NP_002855					4	476	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.447C>A	CCDS8600.1																																																																																				0.453	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		4	74	1	0	0.00116845	0.001168	0.00137772	4	74				
TAS2R30	259293	broad.mit.edu	37	12	11286614	11286614	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:11286614C>A	ENST00000539585.1	-	1	629	c.230G>T	c.(229-231)aGt>aTt	p.S77I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	77					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TACTTCTACACTATAAAAAGC	0.423																																							uc009zhs.1		NA																	0					0						c.(229-231)AGT>ATT		type 2 taste receptor member 30							83.0	84.0	84.0					12																	11286614		2077	4254	6331	SO:0001583	missense	259293							g.chr12:11286614C>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.230G>T	12.37:g.11286614C>A	ENSP00000444736:p.Ser77Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.S77I	NM_001097643	NP_001091112					1	230	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.230G>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	10.82	1.458119	0.26161	.	.	ENSG00000256188	ENST00000539585	T	0.45276	0.9	2.7	-5.4	0.02656	.	.	.	.	.	T	0.36082	0.0954	L	0.49513	1.565	0.09310	N	1	P	0.40107	0.703	P	0.47941	0.562	T	0.37454	-0.9705	9	0.66056	D	0.02	.	0.2301	0.00179	0.3034:0.1852:0.1509:0.3605	.	77	P59541	T2R30_HUMAN	I	77	ENSP00000444736:S77I	ENSP00000444736:S77I	S	-	2	0	TAS2R30	11177881	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.200000	0.03029	-1.305000	0.02327	0.313000	0.20887	AGT		0.423	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		14	170	1	0	1.5842e-08	0.001855	2.38251e-08	14	170				
GRIN2B	2904	broad.mit.edu	37	12	13716789	13716789	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:13716789C>A	ENST00000609686.1	-	13	3592	c.3383G>T	c.(3382-3384)gGg>gTg	p.G1128V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1128					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCCGTAGCCCTTCCTTGTC	0.607																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3382-3384)GGG>GTG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						92.0	85.0	87.0					12																	13716789		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716789C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3383G>T	12.37:g.13716789C>A	ENSP00000477455:p.Gly1128Val						p.G1128V	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3562	-			1128			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3383G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121554	0.56613	.	.	ENSG00000150086	ENST00000279593	T	0.11169	2.8	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.168104	0.53938	D	0.000056	T	0.15478	0.0373	L	0.29908	0.895	0.80722	D	1	P	0.37688	0.605	P	0.45971	0.499	T	0.05257	-1.0896	10	0.33141	T	0.24	.	19.0724	0.93145	0.0:1.0:0.0:0.0	.	1128	Q13224	NMDE2_HUMAN	V	1128	ENSP00000279593:G1128V	ENSP00000279593:G1128V	G	-	2	0	GRIN2B	13608056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.655000	0.67981	2.492000	0.84095	0.655000	0.94253	GGG		0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			19	29	1	0	1.37657e-19	0.001882	2.62977e-19	19	29				
GRIN2B	2904	broad.mit.edu	37	12	13716964	13716964	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:13716964A>T	ENST00000609686.1	-	13	3417	c.3208T>A	c.(3208-3210)Tat>Aat	p.Y1070N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1070					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGTTCCCATAGGTGACGGTG	0.567																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3208-3210)TAT>AAT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						60.0	52.0	55.0					12																	13716964		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716964A>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3208T>A	12.37:g.13716964A>T	ENSP00000477455:p.Tyr1070Asn						p.Y1070N	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3387	-			1070			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3208T>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120267	0.56613	.	.	ENSG00000150086	ENST00000279593	T	0.18502	2.21	5.39	5.39	0.77823	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.14420	-1.0473	10	0.72032	D	0.01	.	15.4076	0.74890	1.0:0.0:0.0:0.0	.	1070	Q13224	NMDE2_HUMAN	N	1070	ENSP00000279593:Y1070N	ENSP00000279593:Y1070N	Y	-	1	0	GRIN2B	13608231	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.218000	0.77991	2.047000	0.60756	0.528000	0.53228	TAT		0.567	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	19	0	0	0	0.000978	0	10	19				
PLCZ1	89869	broad.mit.edu	37	12	18858220	18858220	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:18858220T>A	ENST00000266505.7	-	7	1007	c.744A>T	c.(742-744)ttA>ttT	p.L248F	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L55F|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L53F|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Splice_Site|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L111F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L246F					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AGTGATTTTCTAAAGAGAGCA	0.368																																							uc010sid.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(742-744)TTA>TTT		phospholipase C, zeta 1							123.0	120.0	121.0					12																	18858220		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18858220T>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.744A>T	12.37:g.18858220T>A	ENSP00000266505:p.Leu248Phe					PLCZ1_uc001rdv.3_Missense_Mutation_p.L144F|PLCZ1_uc001rdw.3_5'UTR|PLCZ1_uc001rdu.1_Splice_Site|PLCZ1_uc009zil.1_RNA	p.L248F	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			7	935	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		248			PI-PLC X-box.			Missense_Mutation	SNP	ENST00000266505.7	37	c.744A>T	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610397	0.46527	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000539072	T;T;T;T;T;T	0.73681	-0.08;-0.08;-0.77;-0.08;-0.77;-0.77	5.16	0.262	0.15597	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000004	T	0.77096	0.4080	L	0.52266	1.64	0.41194	D	0.986326	D	0.89917	1.0	D	0.97110	1.0	T	0.70999	-0.4719	10	0.22109	T	0.4	.	8.1165	0.30946	0.0:0.4631:0.0:0.5369	.	248	Q86YW0	PLCZ1_HUMAN	F	248;246;53;111;55;75	ENSP00000266505:L248F;ENSP00000402358:L246F;ENSP00000400504:L53F;ENSP00000443349:L111F;ENSP00000445026:L55F;ENSP00000438629:L75F	ENSP00000266505:L248F	L	-	3	2	PLCZ1	18749487	0.997000	0.39634	0.999000	0.59377	0.972000	0.66771	0.396000	0.20867	0.081000	0.16988	0.455000	0.32223	TTA		0.368	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		85	99	0	0	0	0.00361	0	85	99				
PDE3A	5139	broad.mit.edu	37	12	20522936	20522936	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:20522936C>A	ENST00000359062.3	+	1	758	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	240					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)	GAGACCTTACCTGGCGTACCT	0.622																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(718-720)CTG>ATG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						36.0	40.0	38.0					12																	20522936		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.chr12:20522936C>A		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.718C>A	12.37:g.20522936C>A	ENSP00000351957:p.Leu240Met						p.L240M	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	740	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	240			Helical; (Potential).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.718C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848686	0.71603	.	.	ENSG00000172572	ENST00000359062	T	0.68903	-0.36	4.45	4.45	0.53987	.	3.072470	0.00721	N	0.000884	D	0.82697	0.5093	L	0.59436	1.845	0.44024	D	0.996747	D	0.76494	0.999	D	0.66716	0.946	T	0.68372	-0.5426	10	0.87932	D	0	.	17.2459	0.87028	0.0:1.0:0.0:0.0	.	240	Q14432	PDE3A_HUMAN	M	240	ENSP00000351957:L240M	ENSP00000351957:L240M	L	+	1	2	PDE3A	20414203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.933000	0.40153	2.460000	0.83146	0.555000	0.69702	CTG		0.622	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			27	38	1	0	9.80776e-20	0.00632	1.87633e-19	27	38				
PDE3A	5139	broad.mit.edu	37	12	20783002	20783002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:20783002C>A	ENST00000359062.3	+	6	1741	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	567					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)	CCTTAACTTACACTCAGAGTG	0.443																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1699-1701)TAC>TAA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						148.0	148.0	148.0					12																	20783002		2203	4300	6503	SO:0001587	stop_gained	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.chr12:20783002C>A		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.1701C>A	12.37:g.20783002C>A	ENSP00000351957:p.Tyr567*						p.Y567*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			6	1723	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	567					O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	c.1701C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	37	6.412020	0.97546	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.44	-3.71	0.04424	.	1.200930	0.05567	N	0.570510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9642	0.64199	0.0:0.4217:0.0:0.5783	.	.	.	.	X	567	.	ENSP00000351957:Y567X	Y	+	3	2	PDE3A	20674269	0.763000	0.28462	0.904000	0.35570	0.958000	0.62258	-0.123000	0.10611	-0.554000	0.06150	0.650000	0.86243	TAC		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			89	129	1	0	3.71036e-49	0.00361	7.52721e-49	89	129				
SOX5	6660	broad.mit.edu	37	12	23793749	23793749	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:23793749C>A	ENST00000451604.2	-	8	1115	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	SOX5_ENST00000541536.1_Silent_p.L325L|RP11-437F6.1_ENST00000546118.1_RNA|SOX5_ENST00000537393.1_Silent_p.L303L|SOX5_ENST00000546136.1_Silent_p.L325L|SOX5_ENST00000309359.1_Silent_p.L325L|SOX5_ENST00000545921.1_Silent_p.L328L|SOX5_ENST00000381381.2_Silent_p.L325L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	338					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|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)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GACTTACCTGCAGTTGGAGTG	0.433																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1012-1014)CTG>CTT		SRY (sex determining region Y)-box 5 isoform a							132.0	125.0	127.0					12																	23793749		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23793749C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1014G>T	12.37:g.23793749C>A						SOX5_uc001rfx.2_Silent_p.L325L|SOX5_uc001rfy.2_Silent_p.L325L|SOX5_uc010siv.1_Silent_p.L325L|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.L290L	p.L338L	NM_006940	NP_008871	P35711	SOX5_HUMAN			8	1116	-			338					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.1014G>T	CCDS8699.1																																																																																				0.433	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		18	123	1	0	3.70931e-20	0.006122	7.12677e-20	18	123				
TMTC1	83857	broad.mit.edu	37	12	29904696	29904696	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:29904696G>A	ENST00000539277.1	-	5	899	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	TMTC1_ENST00000381224.2_Missense_Mutation_p.H173Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.H281Y|TMTC1_ENST00000256062.5_Missense_Mutation_p.H173Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.H281Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	281						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTCCTTTGTGAGGGAACCGC	0.642																																							uc001rjb.2		NA																	0					0						c.(517-519)CAC>TAC		transmembrane and tetratricopeptide repeat							65.0	61.0	62.0					12																	29904696		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29904696G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.841C>T	12.37:g.29904696G>A	ENSP00000442046:p.His281Tyr					TMTC1_uc001rjc.1_Missense_Mutation_p.H173Y	p.H173Y	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	991	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		281					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.517C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982942	0.34942	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68624	-0.31;-0.08;-0.34;-0.19;1.49	4.73	4.73	0.59995	.	0.578304	0.18487	N	0.139769	T	0.59891	0.2227	L	0.43152	1.355	0.39145	D	0.962116	P;P	0.49185	0.857;0.92	B;B	0.41510	0.359;0.197	T	0.63229	-0.6684	9	.	.	.	-5.4297	15.2873	0.73838	0.0:0.0:1.0:0.0	.	173;281	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	Y	173;281;281;281;173	ENSP00000256062:H173Y;ENSP00000448112:H281Y;ENSP00000449043:H281Y;ENSP00000442046:H281Y;ENSP00000370622:H173Y	.	H	-	1	0	TMTC1	29795963	1.000000	0.71417	0.769000	0.31535	0.993000	0.82548	5.143000	0.64826	2.562000	0.86427	0.555000	0.69702	CAC		0.642	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		13	20	0	0	0	0.001855	0	13	20				
TMTC1	83857	broad.mit.edu	37	12	29920927	29920927	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:29920927C>A	ENST00000539277.1	-	2	442	c.384G>T	c.(382-384)gtG>gtT	p.V128V	TMTC1_ENST00000381224.2_Silent_p.V20V|TMTC1_ENST00000551659.1_Silent_p.V128V|TMTC1_ENST00000256062.5_Silent_p.V20V|TMTC1_ENST00000552618.1_Silent_p.V128V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGTACATCAGCACAAGAGTCA	0.358																																							uc001rjb.2		NA																	0					0						c.(58-60)GTG>GTT		transmembrane and tetratricopeptide repeat							112.0	98.0	102.0					12																	29920927		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29920927C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.384G>T	12.37:g.29920927C>A						TMTC1_uc001rjc.1_Silent_p.V20V	p.V20V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			2	534	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		128			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.60G>T	CCDS53772.1																																																																																				0.358	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		19	26	1	0	3.99206e-14	0.007413	7.06368e-14	19	26				
CAPRIN2	65981	broad.mit.edu	37	12	30888056	30888056	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:30888056G>C	ENST00000395805.2	-	4	1202	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q219E|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q219E|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Q219E	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TACTGAACTTGAAGTATAGTT	0.408																																							uc001rji.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(655-657)CAA>GAA		C1q domain containing 1 isoform 1							185.0	175.0	178.0					12																	30888056		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30888056G>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.655C>G	12.37:g.30888056G>C	ENSP00000379150:p.Gln219Glu					CAPRIN2_uc001rjf.1_Missense_Mutation_p.Q16E|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.Q219E|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.Q219E|CAPRIN2_uc001rjl.3_Missense_Mutation_p.Q219E	p.Q219E	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			4	1406	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		219						Missense_Mutation	SNP	ENST00000395805.2	37	c.655C>G	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307726	0.23821	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.61	4.61	0.57282	.	0.058088	0.64402	D	0.000001	T	0.30135	0.0755	N	0.17674	0.51	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.982;0.996;0.995	D;D;D;D;D	0.83275	0.978;0.996;0.952;0.987;0.98	T	0.06391	-1.0829	10	0.15066	T	0.55	-10.0883	17.6306	0.88106	0.0:0.0:1.0:0.0	.	219;219;219;219;219	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	E	219;219;219;219;138;16;16;138	ENSP00000298892:Q219E;ENSP00000379150:Q219E;ENSP00000251071:Q219E;ENSP00000391479:Q219E;ENSP00000438010:Q138E;ENSP00000444137:Q16E;ENSP00000440785:Q16E;ENSP00000443353:Q138E	ENSP00000251071:Q219E	Q	-	1	0	CAPRIN2	30779323	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.665000	0.83852	2.375000	0.81037	0.591000	0.81541	CAA		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		66	133	0	0	0	0.00361	0	66	133				
FGD4	121512	broad.mit.edu	37	12	32793217	32793217	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:32793217G>C	ENST00000427716.2	+	17	2475	c.2051G>C	c.(2050-2052)aGa>aCa	p.R684T	FGD4_ENST00000525053.1_Missense_Mutation_p.R796T|FGD4_ENST00000534526.2_Missense_Mutation_p.R821T|FGD4_ENST00000531134.1_Missense_Mutation_p.R769T|FGD4_ENST00000546442.1_Missense_Mutation_p.R591T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	684	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGGACGTCAGAGCCCAGGCC	0.488																																							uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2050-2052)AGA>ACA		FYVE, RhoGEF and PH domain containing 4							141.0	136.0	137.0					12																	32793217		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32793217G>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2051G>C	12.37:g.32793217G>C	ENSP00000394487:p.Arg684Thr					FGD4_uc001rlc.2_Missense_Mutation_p.R769T|FGD4_uc001rla.2_Missense_Mutation_p.R340T|FGD4_uc010ske.1_Missense_Mutation_p.R796T|FGD4_uc001rlb.1_RNA	p.R684T	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			17	2528	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		684			PH 2.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.2051G>C	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423891	0.62733	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112986	0.39475	N	0.001355	T	0.65491	0.2696	L	0.43923	1.385	0.80722	D	1	B;B;P	0.39920	0.051;0.051;0.695	B;B;B	0.42522	0.155;0.155;0.39	T	0.61753	-0.6998	10	0.23302	T	0.38	-20.687	6.6925	0.23181	0.221:0.0:0.779:0.0	.	796;769;684	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	T	821;769;684;591;796	ENSP00000449273:R821T;ENSP00000431323:R769T;ENSP00000394487:R684T;ENSP00000446695:R591T;ENSP00000433666:R796T	ENSP00000394487:R684T	R	+	2	0	FGD4	32684484	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.857000	0.62939	2.386000	0.81285	0.563000	0.77884	AGA		0.488	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		5	185	0	0	0	0.001168	0	5	185				
LRRK2	120892	broad.mit.edu	37	12	40677725	40677725	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:40677725A>T	ENST00000298910.7	+	19	2348	c.2290A>T	c.(2290-2292)Agt>Tgt	p.S764C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S764C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	764					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTACTGAATAGTGGATCTCG	0.388																																							uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2290-2292)AGT>TGT		leucine-rich repeat kinase 2							119.0	112.0	114.0					12																	40677725		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677725A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2290A>T	12.37:g.40677725A>T	ENSP00000298910:p.Ser764Cys					LRRK2_uc001rmh.1_Missense_Mutation_p.S386C	p.S764C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			19	2411	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	764					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2290A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442218	0.43326	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.36878	2.63;1.23;1.23	5.14	0.974	0.19715	Ankyrin repeat-containing domain (1);	0.521314	0.22172	N	0.063627	T	0.23846	0.0577	N	0.19112	0.55	0.09310	N	1	D;D	0.57899	0.979;0.981	B;P	0.45138	0.41;0.471	T	0.13522	-1.0506	10	0.54805	T	0.06	.	8.7228	0.34452	0.7405:0.0:0.2595:0.0	.	764;764	E9PC85;Q5S007	.;LRRK2_HUMAN	C	512;764;764	ENSP00000398726:S512C;ENSP00000341930:S764C;ENSP00000298910:S764C	ENSP00000298910:S764C	S	+	1	0	LRRK2	38963992	0.939000	0.31865	0.042000	0.18584	0.867000	0.49689	1.745000	0.38278	-0.023000	0.13963	0.482000	0.46254	AGT		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		22	59	0	0	0	0.00333	0	22	59				
PRICKLE1	144165	broad.mit.edu	37	12	42854219	42854219	+	Missense_Mutation	SNP	G	G	C	rs200171609	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:42854219G>C	ENST00000455697.1	-	8	2173	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Q630E|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Q630E|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Q630E|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Q630E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	630					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTGACCTGCTGGGGTCTG	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		18484	0.0		0.0	False		,,,				2504	0.002						uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(1888-1890)CAG>GAG		prickle homolog 1							104.0	99.0	101.0					12																	42854219		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854219G>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1888C>G	12.37:g.42854219G>C	ENSP00000401060:p.Gln630Glu					PRICKLE1_uc001rnl.2_Missense_Mutation_p.Q630E|PRICKLE1_uc010skw.1_Missense_Mutation_p.Q630E|PRICKLE1_uc001rnm.2_Missense_Mutation_p.Q630E|PRICKLE1_uc001rnk.1_5'Flank	p.Q630E	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2175	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		630					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1888C>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165746	0.57476	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.1	5.1	0.69264	.	0.135997	0.52532	D	0.000066	T	0.56863	0.2014	M	0.63428	1.95	0.80722	D	1	P	0.40431	0.717	B	0.36959	0.237	T	0.64132	-0.6479	10	0.62326	D	0.03	0.3228	17.5889	0.87989	0.0:0.0:1.0:0.0	.	630	Q96MT3	PRIC1_HUMAN	E	630	ENSP00000401060:Q630E;ENSP00000398947:Q630E;ENSP00000448359:Q630E;ENSP00000345064:Q630E;ENSP00000449819:Q630E	ENSP00000345064:Q630E	Q	-	1	0	PRICKLE1	41140486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.978000	0.76147	2.759000	0.94783	0.650000	0.86243	CAG		0.478	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			6	72	0	0	0	0.000978	0	6	72				
ADAMTS20	80070	broad.mit.edu	37	12	43828094	43828094	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:43828094G>T	ENST00000389420.3	-	19	2673	c.2674C>A	c.(2674-2676)Ctt>Att	p.L892I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L46I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L892I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	892	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGATGGAAGTGGCAAGTGG	0.338																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2674-2676)CTT>ATT		a disintegrin-like and metalloprotease with							94.0	80.0	85.0					12																	43828094		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43828094G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2674C>A	12.37:g.43828094G>T	ENSP00000374071:p.Leu892Ile					ADAMTS20_uc001rno.1_Missense_Mutation_p.L46I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.L46I	p.L892I	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	19	2674	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	892			TSP type-1 2.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2674C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132712	0.37630	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61158	0.32;0.16;0.16;0.13	4.91	4.0	0.46444	.	0.340611	0.20836	N	0.084800	T	0.48840	0.1522	L	0.60455	1.87	0.18873	N	0.999981	B;P	0.37612	0.28;0.602	B;B	0.32022	0.096;0.139	T	0.50145	-0.8862	10	0.59425	D	0.04	.	9.1155	0.36755	0.0719:0.0:0.6662:0.2619	.	892;46	P59510;E9PBD5	ATS20_HUMAN;.	I	892;58;46;892;892	ENSP00000374071:L892I;ENSP00000447427:L58I;ENSP00000378911:L46I;ENSP00000448341:L892I	ENSP00000374068:L892I	L	-	1	0	ADAMTS20	42114361	0.993000	0.37304	0.789000	0.31954	0.904000	0.53231	3.301000	0.51842	1.336000	0.45506	0.655000	0.94253	CTT		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	12	1	0	0.000157383	0.00308	0.000191976	7	12				
ARID2	196528	broad.mit.edu	37	12	46244208	46244208	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:46244208G>T	ENST00000334344.6	+	15	2474	c.2302G>T	c.(2302-2304)Gta>Tta	p.V768L	ARID2_ENST00000444670.1_Missense_Mutation_p.V378L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.V619L|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	768					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATCCATCTGTAATTCCACA	0.463			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2302-2304)GTA>TTA		AT rich interactive domain 2 (ARID, RFX-like)							84.0	71.0	76.0					12																	46244208		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244208G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2302G>T	12.37:g.46244208G>T	ENSP00000335044:p.Val768Leu					ARID2_uc001ror.2_Missense_Mutation_p.V768L|ARID2_uc009zkg.1_Missense_Mutation_p.V224L|ARID2_uc009zkh.1_Missense_Mutation_p.V395L|ARID2_uc001rou.1_Missense_Mutation_p.V102L	p.V768L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2302	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	768					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2302G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141832	0.57044	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.34667	1.35	5.97	5.97	0.96955	.	0.118471	0.56097	D	0.000027	T	0.50411	0.1614	L	0.27053	0.805	0.80722	D	1	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.73380	0.98;0.98;0.97	T	0.45205	-0.9277	10	0.51188	T	0.08	-9.2448	20.428	0.99075	0.0:0.0:1.0:0.0	.	768;378;768	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	768;619;378	ENSP00000335044:V768L	ENSP00000335044:V768L	V	+	1	0	ARID2	44530475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.732000	0.62029	2.837000	0.97791	0.655000	0.94253	GTA		0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		6	24	1	0	3.59834e-05	0.001168	4.57629e-05	6	24				
KMT2D	8085	broad.mit.edu	37	12	49420538	49420538	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:49420538C>G	ENST00000301067.7	-	48	15210	c.15211G>C	c.(15211-15213)Gag>Cag	p.E5071Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5071					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCTGGGTCTCATACACCTCC	0.637																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15211-15213)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia 2							49.0	53.0	52.0					12																	49420538		2060	4194	6254	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420538C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15211G>C	12.37:g.49420538C>G	ENSP00000301067:p.Glu5071Gln	HNSCC(34;0.089)					p.E5071Q	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15211	-			5071					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15211G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396146	0.42512	.	.	ENSG00000167548	ENST00000301067	T	0.70749	-0.51	4.62	4.62	0.57501	.	0.000000	0.39020	N	0.001494	T	0.82231	0.4992	L	0.61036	1.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84606	0.0675	10	0.87932	D	0	.	16.6279	0.84984	0.0:1.0:0.0:0.0	.	5071	O14686	MLL2_HUMAN	Q	5071	ENSP00000301067:E5071Q	ENSP00000301067:E5071Q	E	-	1	0	MLL2	47706805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.308000	0.77769	0.655000	0.94253	GAG		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	50	0	0	0	0.004672	0	3	50				
ACVRL1	94	broad.mit.edu	37	12	52306269	52306269	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52306269G>A	ENST00000388922.4	+	2	294	c.11G>A	c.(10-12)gGc>gAc	p.G4D	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G18D|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G18D	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	4					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGACCTTGGGCTCCCCCAGG	0.587																																							uc001rzj.2		NA																	0				lung(2)	2						c.(10-12)GGC>GAC		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						69.0	57.0	61.0					12																	52306269		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52306269G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.11G>A	12.37:g.52306269G>A	ENSP00000373574:p.Gly4Asp					ACVRL1_uc001rzk.2_Missense_Mutation_p.G4D|ACVRL1_uc010snm.1_Missense_Mutation_p.G18D	p.G4D	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	2	294	+			4					A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.11G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	9.725	1.160757	0.21538	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.91740	-1.9;-2.9;-1.94;-2.13	4.98	1.68	0.24146	.	0.590250	0.14171	N	0.336719	T	0.77505	0.4140	N	0.08118	0	0.09310	N	0.999998	B;B	0.27264	0.173;0.0	B;B	0.17722	0.019;0.001	T	0.64563	-0.6378	10	0.22706	T	0.39	.	2.7931	0.05393	0.3739:0.2459:0.3801:0.0	.	18;4	E7EN07;P37023	.;ACVL1_HUMAN	D	4;4;18;18;18;18	ENSP00000373574:G4D;ENSP00000446724:G18D;ENSP00000447884:G18D;ENSP00000392492:G18D	ENSP00000267008:G4D	G	+	2	0	ACVRL1	50592536	0.001000	0.12720	0.710000	0.30468	0.451000	0.32288	0.737000	0.26144	0.205000	0.20568	0.655000	0.94253	GGC		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			8	22	0	0	0	0.004482	0	8	22				
KRT85	3891	broad.mit.edu	37	12	52758745	52758745	+	Splice_Site	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52758745C>T	ENST00000257901.3	-	2	705		c.e2+1		KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85						epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCACTCACTTCTTCTTGT	0.607																																							uc001sag.2		NA																	0				ovary(1)	1						c.e2+1		keratin 85							93.0	99.0	97.0					12																	52758745		2203	4300	6503	SO:0001630	splice_region_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758745C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.629+1G>A	12.37:g.52758745C>T							p.K210_splice	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	749	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)							Q9NSB1	Splice_Site	SNP	ENST00000257901.3	37	c.629_splice	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763316	0.69763	.	.	ENSG00000135443	ENST00000257901	.	.	.	4.7	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8387	0.57788	0.0:0.9209:0.0:0.0791	.	.	.	.	.	-1	.	.	.	-	.	.	KRT85	51045012	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.626000	0.83164	1.197000	0.43143	0.491000	0.48974	.		0.607	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	Intron	22	101	0	0	0	0.001882	0	22	101				
KRT4	3851	broad.mit.edu	37	12	53203200	53203200	+	Silent	SNP	G	G	A	rs369207280		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:53203200G>A	ENST00000551956.1	-	4	1293	c.801C>T	c.(799-801)gaC>gaT	p.D267D	KRT4_ENST00000458244.2_Silent_p.D247D|KRT4_ENST00000293774.4_Silent_p.D341D			P19013	K2C4_HUMAN	keratin 4	281	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.D341D(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGTTGATCTCGTCATTAAGAC	0.557																																					Pancreas(190;284 2995 41444 45903)	Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(4)|skin(2)	6						c.(1021-1023)GAC>GAT		keratin 4							132.0	142.0	139.0					12																	53203200		2187	4298	6485	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53203200G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.801C>T	12.37:g.53203200G>A							p.D341D	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			4	1294	-			267					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.1023C>T	CCDS41787.2																																																																																				0.557	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		6	75	0	0	0	0.001984	0	6	75				
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577																																							uc001sga.2		NA																	0				ovary(2)	2						c.(631-633)GCC>GCT		integrin alpha 5 precursor		A		1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		633	-9.3	0.1	12	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	ITGA5	NM_002205.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		211/1050	54802689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54802689G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.633C>T	12.37:g.54802689G>A						ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.A211A	NM_002205	NP_002196	P08648	ITA5_HUMAN			5	701	-			211			Extracellular (Potential).|FG-GAP 3.		Q96HA5	Silent	SNP	ENST00000293379.4	37	c.633C>T	CCDS8880.1																																																																																				0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			4	50	0	0	0	0.000248	0	4	50				
SDR9C7	121214	broad.mit.edu	37	12	57324168	57324168	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57324168C>T	ENST00000293502.1	-	2	545	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	134					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCAGTCCCACCAGGTTCACAT	0.572																																							uc010sqw.1		NA																	0				central_nervous_system(1)	1						c.(400-402)CTG>CTA		short chain dehydrogenase/reductase family 9C,							132.0	117.0	122.0					12																	57324168		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324168C>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.402G>A	12.37:g.57324168C>T							p.L134L	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			2	402	-			134					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.402G>A	CCDS8926.1																																																																																				0.572	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		12	40	0	0	0	0.001855	0	12	40				
R3HDM2	22864	broad.mit.edu	37	12	57662768	57662768	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57662768C>A	ENST00000347140.3	-	17	2160	c.1770G>T	c.(1768-1770)agG>agT	p.R590S	R3HDM2_ENST00000402412.1_Missense_Mutation_p.R604S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R624S|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R285S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R590S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R317S|R3HDM2_ENST00000546843.1_5'Flank			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	590	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATGCTGCTCCTCTGGCTGC	0.582																																							uc009zpm.1		NA																	0				ovary(2)	2						c.(1768-1770)AGG>AGT		R3H domain containing 2							110.0	105.0	107.0					12																	57662768		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57662768C>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1770G>T	12.37:g.57662768C>A	ENSP00000317903:p.Arg590Ser					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.R285S|R3HDM2_uc001snr.2_Missense_Mutation_p.R317S|R3HDM2_uc001sns.2_Missense_Mutation_p.R590S|R3HDM2_uc001snt.2_Missense_Mutation_p.R604S|R3HDM2_uc009zpn.1_Intron	p.R590S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			15	1805	-			590			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1770G>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440495	0.63067	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;1.87;1.87;1.87;0.88;1.47;1.88	5.07	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	L	0.36672	1.1	0.45477	D	0.998446	D;D;D;D	0.67145	0.993;0.993;0.993;0.996	D;D;D;P	0.72338	0.977;0.977;0.977;0.895	T	0.40757	-0.9546	10	0.16420	T	0.52	-14.7903	5.6393	0.17554	0.0:0.667:0.1624:0.1706	.	624;604;590;317	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	S	317;317;590;604;590;285;355;624	ENSP00000409146:R317S;ENSP00000377400:R317S;ENSP00000317903:R590S;ENSP00000385839:R604S;ENSP00000351784:R590S;ENSP00000408536:R285S;ENSP00000394676:R355S;ENSP00000385169:R624S	ENSP00000317903:R590S	R	-	3	2	R3HDM2	55949035	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.317000	0.19487	1.513000	0.48852	0.655000	0.94253	AGG		0.582	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		9	86	1	0	1.12685e-05	0.004482	1.48953e-05	9	86				
ARHGAP9	64333	broad.mit.edu	37	12	57872980	57872980	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57872980G>A	ENST00000356411.2	-	2	348	c.210C>T	c.(208-210)ccC>ccT	p.P70P	ARHGAP9_ENST00000393791.3_Silent_p.P70P|ARHGAP9_ENST00000550288.1_Silent_p.P149P|ARHGAP9_ENST00000393797.2_Silent_p.P141P|ARHGAP9_ENST00000424809.2_Silent_p.P70P|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGAGGTGGAGGGAGCTTCTA	0.567																																							uc001sod.2		NA																	0				lung(1)	1						c.(421-423)CCC>CCT		Rho GTPase activating protein 9 isoform 1							153.0	129.0	137.0					12																	57872980		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872980G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.210C>T	12.37:g.57872980G>A						ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Silent_p.P70P|ARHGAP9_uc001soc.2_Silent_p.P70P|ARHGAP9_uc001soe.1_Silent_p.P149P|ARHGAP9_uc010sro.1_Silent_p.P70P	p.P141P	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	616	-			70			SH3.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.423C>T																																																																																					0.567	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		7	67	0	0	0	0.001984	0	7	67				
C12orf66	144577	broad.mit.edu	37	12	64587833	64587833	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:64587833T>C	ENST00000398055.3	-	3	1180	c.1127A>G	c.(1126-1128)aAc>aGc	p.N376S	C12orf66_ENST00000311915.8_Missense_Mutation_p.N376S|C12orf66_ENST00000544871.1_Missense_Mutation_p.N323S	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	376										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTCCAAGCTGTTCAGATCAGA	0.498																																							uc001srw.3		NA																	0				ovary(1)	1						c.(1126-1128)AAC>AGC		hypothetical protein LOC144577							134.0	128.0	130.0					12																	64587833		1959	4184	6143	SO:0001583	missense	144577							g.chr12:64587833T>C		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1127A>G	12.37:g.64587833T>C	ENSP00000381132:p.Asn376Ser					C12orf66_uc009zql.2_Missense_Mutation_p.N323S	p.N376S	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	1186	-			376					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.1127A>G	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	T	2.864	-0.235551	0.05944	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.37915	1.17;1.17;1.17	6.07	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.48642	1.525	0.53688	D	0.999979	B;B	0.33883	0.376;0.43	B;B	0.37508	0.135;0.252	T	0.06144	-1.0843	9	.	.	.	-43.7408	12.1353	0.53968	0.0:0.0664:0.0:0.9336	.	323;376	F5H2Q3;Q96MD2	.;CL066_HUMAN	S	376;323;376	ENSP00000311486:N376S;ENSP00000445481:N323S;ENSP00000381132:N376S	.	N	-	2	0	C12orf66	62874100	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	6.125000	0.71627	1.124000	0.41980	-0.250000	0.11733	AAC		0.498	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		32	94	0	0	0	0.002096	0	32	94				
CPSF6	11052	broad.mit.edu	37	12	69653891	69653891	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:69653891T>C	ENST00000435070.2	+	8	1493	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	CPSF6_ENST00000456847.3_Silent_p.S388S|CPSF6_ENST00000266679.8_Silent_p.S498S|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	461					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAAAGTATCTGCTGATGATC	0.383																																							uc001sut.3		NA																	0					0						c.(1381-1383)TCT>TCC		cleavage and polyadenylation specific factor 6,							141.0	138.0	139.0					12																	69653891		2203	4300	6503	SO:0001819	synonymous_variant	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653891T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1383T>C	12.37:g.69653891T>C						CPSF6_uc001suu.3_Silent_p.S498S|CPSF6_uc010stk.1_Silent_p.S92S	p.S461S	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1493	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		461					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	37	c.1383T>C	CCDS8988.1																																																																																				0.383	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		11	46	0	0	0	0.008291	0	11	46				
PTPRR	5801	broad.mit.edu	37	12	71029518	71029518	+	IGR	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:71029518A>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Missense_Mutation_p.H128Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.H127Q|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000550358.1_Missense_Mutation_p.H128Q	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCATCCAGCTATGGAGGTATT	0.443																																							uc001swc.3		NA																	0				lung(2)|skin(1)	3						c.(382-384)CAT>CAA		protein tyrosine phosphatase, receptor type, B							67.0	63.0	65.0					12																	71029518		1879	4116	5995	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029518A>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029518A>T						PTPRB_uc001swa.3_Missense_Mutation_p.H128Q|PTPRB_uc001swd.3_Missense_Mutation_p.H127Q|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.H128Q	p.H128Q	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	428	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.384T>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.406060	0.42715	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.19105	2.17;2.17;2.17	6.04	-0.104	0.13605	.	.	.	.	.	T	0.21387	0.0515	N	0.19112	0.55	0.80722	D	1	D;D;P;P	0.57899	0.981;0.98;0.874;0.874	P;P;P;P	0.55161	0.77;0.572;0.491;0.491	T	0.03166	-1.1065	9	0.66056	D	0.02	.	10.8952	0.47019	0.6446:0.0:0.3554:0.0	.	128;127;128;128	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	Q	128;128;128;127	ENSP00000334928:H128Q;ENSP00000448058:H128Q;ENSP00000448349:H127Q	ENSP00000334928:H128Q	H	-	3	2	PTPRB	69315785	0.976000	0.34144	0.998000	0.56505	0.694000	0.40290	0.145000	0.16157	-0.032000	0.13758	0.460000	0.39030	CAT		0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		12	38	0	0	0	0.001368	0	12	38				
PTPRR	5801	broad.mit.edu	37	12	71078512	71078512	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:71078512C>A	ENST00000283228.2	-	9	1783	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	PTPRR_ENST00000342084.4_Missense_Mutation_p.S332I|PTPRR_ENST00000440835.2_Missense_Mutation_p.S199I|PTPRR_ENST00000378778.1_Missense_Mutation_p.S238I|PTPRR_ENST00000549308.1_Missense_Mutation_p.S199I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	444	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATGTAGGTGCTCAATGAATC	0.294																																							uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.(1330-1332)AGC>ATC		protein tyrosine phosphatase, receptor type, R							86.0	93.0	90.0					12																	71078512		2203	4297	6500	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078512C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1331G>T	12.37:g.71078512C>A	ENSP00000283228:p.Ser444Ile					PTPRR_uc001swh.1_Missense_Mutation_p.S199I|PTPRR_uc009zrs.2_Missense_Mutation_p.S293I|PTPRR_uc010stq.1_Missense_Mutation_p.S332I|PTPRR_uc010str.1_Missense_Mutation_p.S293I	p.S444I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	9	1747	-			444			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1331G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580256	0.86645	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.74	5.74	0.90152	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000006	T	0.71888	0.3393	M	0.94063	3.49	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.987;0.999	T	0.79155	-0.1920	10	0.87932	D	0	-15.2304	19.544	0.95284	0.0:1.0:0.0:0.0	.	293;332;238;444	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	I	199;444;238;332;199	ENSP00000391750:S199I;ENSP00000283228:S444I;ENSP00000368054:S238I;ENSP00000339605:S332I;ENSP00000446943:S199I	ENSP00000283228:S444I	S	-	2	0	PTPRR	69364779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.457000	0.53007	2.717000	0.92951	0.563000	0.77884	AGC		0.294	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		15	83	1	0	8.60227e-14	0.004007	1.51018e-13	15	83				
TPH2	121278	broad.mit.edu	37	12	72335394	72335394	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:72335394G>T	ENST00000333850.3	+	2	277	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	46					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAAAATGACGACAAAGGCAA	0.393																																							uc009zrw.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(136-138)GAC>TAC		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						83.0	78.0	79.0					12																	72335394		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335394G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.136G>T	12.37:g.72335394G>T	ENSP00000329093:p.Asp46Tyr					TPH2_uc001swy.2_5'UTR	p.D46Y	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			2	277	+			46					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.136G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035461	0.75617	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99494	-6.01	5.91	5.0	0.66597	.	0.212946	0.48767	D	0.000165	D	0.97679	0.9239	N	0.19112	0.55	0.58432	D	0.999997	B	0.02656	0.0	B	0.01281	0.0	D	0.95057	0.8192	10	0.87932	D	0	-18.6624	16.9124	0.86143	0.0:0.1281:0.8719:0.0	.	46	Q8IWU9	TPH2_HUMAN	Y	46	ENSP00000329093:D46Y	ENSP00000266669:D46Y	D	+	1	0	TPH2	70621661	1.000000	0.71417	0.984000	0.44739	0.837000	0.47467	6.540000	0.73861	1.466000	0.48025	0.650000	0.86243	GAC		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		6	26	1	0	3.59834e-05	0.001168	4.57629e-05	6	26				
NAV3	89795	broad.mit.edu	37	12	78542673	78542673	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:78542673A>G	ENST00000397909.2	+	22	4932	c.4759A>G	c.(4759-4761)Acc>Gcc	p.T1587A	NAV3_ENST00000536525.2_Missense_Mutation_p.T1587A|NAV3_ENST00000228327.6_Missense_Mutation_p.T1587A|NAV3_ENST00000266692.7_Missense_Mutation_p.T1410A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1587						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						AAAAGTTGCTACCCTCACATC	0.308										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.(4759-4761)ACC>GCC		neuron navigator 3							91.0	84.0	86.0					12																	78542673		1833	4091	5924	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78542673A>G	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.4759A>G	12.37:g.78542673A>G	ENSP00000381007:p.Thr1587Ala	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T1587A|NAV3_uc010sub.1_Missense_Mutation_p.T1073A|NAV3_uc009zsf.2_Missense_Mutation_p.T418A	p.T1587A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			22	4932	+			1587			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4759A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.36|14.36	2.510860|2.510860	0.44660|0.44660	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.92752|.	-3.1;-3.1;-3.1;-3.1;-3.1|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.41294|.	U|.	0.000913|.	T|T	0.56877|0.56877	0.2015|0.2015	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	B;D;D;D|.	0.76494|.	0.27;0.974;0.999;0.99|.	B;D;D;D|.	0.79784|.	0.124;0.953;0.993;0.98|.	T|T	0.53851|0.53851	-0.8380|-0.8380	10|5	0.12103|.	T|.	0.63|.	-19.1218|-19.1218	15.1456|15.1456	0.72647|0.72647	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1587;1410;1587;1587|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	A|C	1587;1587;1587;1410;208;216|481	ENSP00000446132:T1587A;ENSP00000381007:T1587A;ENSP00000228327:T1587A;ENSP00000266692:T1410A;ENSP00000448303:T216A|.	ENSP00000228327:T1587A|.	T|Y	+|+	1|2	0|0	NAV3|NAV3	77066804|77066804	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	5.863000|5.863000	0.69568|0.69568	2.069000|2.069000	0.61940|0.61940	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.308	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	17	0	0	0	0.004482	0	8	17				
RASSF9	9182	broad.mit.edu	37	12	86199574	86199574	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:86199574C>T	ENST00000361228.3	-	2	582	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	72	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGCTTCCCCAGAAGAAAT	0.502																																							uc001taf.1		NA																	0				ovary(1)	1						c.(214-216)GGG>AGG		Ras association (RalGDS/AF-6) domain family							105.0	104.0	105.0					12																	86199574		1911	4149	6060	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199574C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.214G>A	12.37:g.86199574C>T	ENSP00000354884:p.Gly72Arg						p.G72R	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	553	-			72			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.214G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455951	0.84209	.	.	ENSG00000198774	ENST00000361228	T	0.44881	0.91	4.82	4.82	0.62117	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72690	-0.4217	10	0.62326	D	0.03	-15.6235	18.2669	0.90055	0.0:1.0:0.0:0.0	.	72	O75901	RASF9_HUMAN	R	72	ENSP00000354884:G72R	ENSP00000354884:G72R	G	-	1	0	RASSF9	84723705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.929000	0.70096	2.397000	0.81536	0.514000	0.50259	GGG		0.502	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			15	73	0	0	0	0.003163	0	15	73				
CCER1	196477	broad.mit.edu	37	12	91347470	91347470	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:91347470G>T	ENST00000358859.2	-	1	1483	c.1050C>A	c.(1048-1050)aaC>aaA	p.N350K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	350	Glu-rich.																CTCTCTGCTCGTTCTCCTCCA	0.488																																							uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1048-1050)AAC>AAA		hypothetical protein LOC196477							189.0	164.0	173.0					12																	91347470		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347470G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1050C>A	12.37:g.91347470G>T	ENSP00000351727:p.Asn350Lys						p.N350K	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1484	-			350			Potential.|Glu-rich.		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.1050C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	6.670	0.492147	0.12702	.	.	ENSG00000197651	ENST00000358859	T	0.21543	2.0	4.64	-9.28	0.00656	.	1.554450	0.04556	N	0.390830	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.26318	0.146	B	0.23275	0.045	T	0.28332	-1.0047	10	0.07482	T	0.82	-2.0E-4	0.8586	0.01188	0.167:0.2246:0.3067:0.3017	.	350	Q8TC90	CL012_HUMAN	K	350	ENSP00000351727:N350K	ENSP00000351727:N350K	N	-	3	2	C12orf12	89871601	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.321000	0.02697	-1.151000	0.02836	-0.384000	0.06662	AAC		0.488	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	46	1	0	1.52009e-12	0.003163	2.58743e-12	12	46				
SLC17A8	246213	broad.mit.edu	37	12	100796415	100796415	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:100796415G>T	ENST00000323346.5	+	8	1258	c.945G>T	c.(943-945)ccG>ccT	p.P315P	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	315					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CATCTTTGCCGGTTTATGCAA	0.338																																							uc010svi.1		NA																	0				ovary(3)	3						c.(943-945)CCG>CCT		solute carrier family 17 (sodium-dependent							106.0	104.0	104.0					12																	100796415		2203	4299	6502	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100796415G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.945G>T	12.37:g.100796415G>T						SLC17A8_uc009ztx.2_Intron	p.P315P	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			8	1258	+			315			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.945G>T	CCDS9077.1																																																																																				0.338	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		27	61	1	0	4.22769e-11	0.00632	6.95808e-11	27	61				
ANO4	121601	broad.mit.edu	37	12	101333107	101333107	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:101333107A>G	ENST00000392977.3	+	4	385	c.175A>G	c.(175-177)Aat>Gat	p.N59D	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.N24D|ANO4_ENST00000538618.1_Missense_Mutation_p.N225D			Q32M45	ANO4_HUMAN	anoctamin 4	59					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAGGATGTCAATATTCTTTT	0.398										HNSCC(74;0.22)																													uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(175-177)AAT>GAT		anoctamin 4							126.0	124.0	124.0					12																	101333107		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101333107A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.175A>G	12.37:g.101333107A>G	ENSP00000376703:p.Asn59Asp	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.N24D|ANO4_uc001thx.2_Missense_Mutation_p.N59D	p.N59D	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			4	747	+			59			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.175A>G		.	.	.	.	.	.	.	.	.	.	A	17.53	3.413697	0.62511	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.40756	1.02;1.02;1.02	5.54	5.54	0.83059	.	0.057801	0.64402	D	0.000003	T	0.43411	0.1246	N	0.24115	0.695	0.80722	D	1	P;B	0.52842	0.956;0.218	P;B	0.62184	0.899;0.056	T	0.23368	-1.0190	10	0.02654	T	1	.	15.6902	0.77446	1.0:0.0:0.0:0.0	.	59;24	Q32M45;Q32M45-2	ANO4_HUMAN;.	D	225;24;59	ENSP00000443751:N225D;ENSP00000376705:N24D;ENSP00000376703:N59D	ENSP00000376703:N59D	N	+	1	0	ANO4	99857238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.115000	0.64714	0.528000	0.53228	AAT		0.398	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		20	112	0	0	0	0.001882	0	20	112				
ANO4	121601	broad.mit.edu	37	12	101505362	101505362	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:101505362A>T	ENST00000392977.3	+	24	2534	c.2324A>T	c.(2323-2325)gAa>gTa	p.E775V	ANO4_ENST00000299222.9_Missense_Mutation_p.E295V|ANO4_ENST00000392979.3_Missense_Mutation_p.E740V|ANO4_ENST00000550015.1_Missense_Mutation_p.E295V			Q32M45	ANO4_HUMAN	anoctamin 4	775					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAATTCTTGAAGGCATTGGA	0.328										HNSCC(74;0.22)																													uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2323-2325)GAA>GTA		anoctamin 4							118.0	116.0	117.0					12																	101505362		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101505362A>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2324A>T	12.37:g.101505362A>T	ENSP00000376703:p.Glu775Val	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.E740V|ANO4_uc001thx.2_Missense_Mutation_p.E775V|ANO4_uc001thy.2_Missense_Mutation_p.E295V	p.E775V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			24	2896	+			775			Helical; (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2324A>T		.	.	.	.	.	.	.	.	.	.	A	23.1	4.374478	0.82573	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.78321	-0.2249	10	0.41790	T	0.15	.	15.7972	0.78420	1.0:0.0:0.0:0.0	.	295;775;740	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	V	740;295;775;295	ENSP00000376705:E740V;ENSP00000299222:E295V;ENSP00000376703:E775V;ENSP00000450192:E295V	ENSP00000299222:E295V	E	+	2	0	ANO4	100029493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.194000	0.94962	2.143000	0.66587	0.533000	0.62120	GAA		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		18	39	0	0	0	0.001882	0	18	39				
EID3	493861	broad.mit.edu	37	12	104698266	104698266	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:104698266G>A	ENST00000527879.1	+	1	750	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3									p.R185Q(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCAAAGCCCCGACTTGAACAC	0.423																																							uc001tkw.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(553-555)CGA>CAA		EP300 interacting inhibitor of differentiation							118.0	117.0	117.0					12																	104698266		1885	4114	5999	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698266G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.554G>A	12.37:g.104698266G>A	ENSP00000435619:p.Arg185Gln					TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	p.R185Q	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN			1	718	+			185						Missense_Mutation	SNP	ENST00000527879.1	37	c.554G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982186	0.74474	.	.	ENSG00000255150	ENST00000527879	T	0.53640	0.61	4.94	4.04	0.47022	.	.	.	.	.	T	0.65831	0.2729	M	0.74647	2.275	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54951	-0.8216	9	0.37606	T	0.19	.	10.8797	0.46931	0.0:0.0:0.8124:0.1876	.	185	Q8N140	EID3_HUMAN	Q	185	ENSP00000435619:R185Q	ENSP00000435619:R185Q	R	+	2	0	EID3	103222396	0.536000	0.26378	0.017000	0.16124	0.232000	0.25224	3.036000	0.49767	1.449000	0.47699	0.555000	0.69702	CGA		0.423	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		52	132	0	0	0	0.00361	0	52	132				
CHST11	50515	broad.mit.edu	37	12	105151069	105151069	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:105151069C>T	ENST00000303694.5	+	3	986	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	CHST11_ENST00000549260.1_Silent_p.L178L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	183					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CATGAAGTTCCTGTTTGTCCG	0.547																																							uc001tkx.1		NA																	0					0						c.(547-549)CTG>TTG		carbohydrate sulfotransferase 11							72.0	65.0	67.0					12																	105151069		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151069C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.547C>T	12.37:g.105151069C>T						CHST11_uc001tky.2_Silent_p.L178L|uc001tkz.2_5'Flank	p.L183L	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	838	+			183			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.547C>T	CCDS9099.1																																																																																				0.547	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		11	53	0	0	0	0.001368	0	11	53				
ATP2A2	488	broad.mit.edu	37	12	110760866	110760866	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:110760866C>T	ENST00000539276.2	+	6	642	c.533C>T	c.(532-534)tCa>tTa	p.S178L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S178L|ATP2A2_ENST00000395494.2_Intron|ATP2A2_ENST00000550248.2_3'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	178					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S178L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTTGACCAGTCAATTCTCACA	0.378																																							uc001tqk.3		NA																	1	Substitution - Missense(1)		pancreas(1)	ovary(3)|skin(1)	4						c.(532-534)TCA>TTA		ATPase, Ca++ transporting, slow twitch 2 isoform							76.0	78.0	77.0					12																	110760866		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110760866C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.533C>T	12.37:g.110760866C>T	ENSP00000440045:p.Ser178Leu					ATP2A2_uc001tql.3_Missense_Mutation_p.S178L|ATP2A2_uc010sxy.1_Intron	p.S178L	NM_170665	NP_733765	P16615	AT2A2_HUMAN			6	1096	+			178			Cytoplasmic (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.533C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529217	0.96446	.	.	ENSG00000174437	ENST00000308664;ENST00000539276;ENST00000550248	D;D	0.92965	-3.14;-3.14	5.57	5.57	0.84162	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.96720	3.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.963;0.985	D	0.98417	1.0575	10	0.87932	D	0	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	178;178	P16615-2;P16615	.;AT2A2_HUMAN	L	178;178;53	ENSP00000311186:S178L;ENSP00000440045:S178L	ENSP00000311186:S178L	S	+	2	0	ATP2A2	109245249	1.000000	0.71417	0.968000	0.41197	0.913000	0.54294	7.675000	0.84002	2.785000	0.95823	0.650000	0.86243	TCA		0.378	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		12	71	0	0	0	0.00245	0	12	71				
LHX5	64211	broad.mit.edu	37	12	113906943	113906943	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:113906943C>G	ENST00000261731.3	-	2	954	c.381G>C	c.(379-381)gaG>gaC	p.E127D	RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	127					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TGAGGCTGCCCTCCTTGAGGC	0.607																																							uc001tvj.1		NA																	0					0						c.(379-381)GAG>GAC		LIM homeobox protein 5							69.0	56.0	60.0					12																	113906943		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906943C>G	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.381G>C	12.37:g.113906943C>G	ENSP00000261731:p.Glu127Asp						p.E127D	NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN			2	955	-			127					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.381G>C	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636682	0.29068	.	.	ENSG00000089116	ENST00000261731	D	0.91124	-2.79	5.16	-0.616	0.11583	.	0.000000	0.53938	D	0.000057	T	0.80602	0.4654	L	0.28556	0.865	0.47245	D	0.999368	B	0.06786	0.001	B	0.08055	0.003	T	0.64478	-0.6398	10	0.13108	T	0.6	.	9.6083	0.39648	0.0:0.3935:0.0:0.6065	.	127	Q9H2C1	LHX5_HUMAN	D	127	ENSP00000261731:E127D	ENSP00000261731:E127D	E	-	3	2	LHX5	112391326	0.968000	0.33430	0.997000	0.53966	0.996000	0.88848	0.102000	0.15272	-0.033000	0.13736	0.561000	0.74099	GAG		0.607	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		4	13	0	0	0	0.000602	0	4	13				
KSR2	283455	broad.mit.edu	37	12	118020126	118020126	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:118020126G>A	ENST00000339824.5	-	6	1937	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	KSR2_ENST00000425217.1_Missense_Mutation_p.R375C|KSR2_ENST00000302438.5_Missense_Mutation_p.R101C|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	404					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)					AGATCTCTGCGAGGGATCTGC	0.592																																							uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1123-1125)CGC>TGC		kinase suppressor of ras 2							118.0	122.0	121.0					12																	118020126		2112	4233	6345	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118020126G>A	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.1210C>T	12.37:g.118020126G>A	ENSP00000339952:p.Arg404Cys						p.R375C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			6	1178	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		404					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1123C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.411942	0.83340	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.58210	0.35;0.35;0.35	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70414	-0.4878	10	0.54805	T	0.06	.	16.9342	0.86199	0.0:0.0:1.0:0.0	.	404	Q6VAB6	KSR2_HUMAN	C	375;404;101;76	ENSP00000389715:R375C;ENSP00000339952:R404C;ENSP00000305466:R101C	ENSP00000305466:R101C	R	-	1	0	KSR2	116504509	1.000000	0.71417	0.984000	0.44739	0.780000	0.44128	6.971000	0.76105	2.294000	0.77228	0.313000	0.20887	CGC		0.592	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		15	80	0	0	0	0.006122	0	15	80				
LRRC43	254050	broad.mit.edu	37	12	122675978	122675978	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:122675978G>A	ENST00000339777.4	+	6	981	c.953G>A	c.(952-954)gGa>gAa	p.G318E	LRRC43_ENST00000425921.1_Missense_Mutation_p.G133E	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	318										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AACATCAGAGGAGTCCTGGAC	0.527											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009zxm.2		NA																	0					0						c.(952-954)GGA>GAA		leucine rich repeat containing 43 isoform 1							60.0	59.0	59.0					12																	122675978		1937	4136	6073	SO:0001583	missense	254050							g.chr12:122675978G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.953G>A	12.37:g.122675978G>A	ENSP00000344233:p.Gly318Glu		OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1520	LRRC43_uc001ubw.3_Missense_Mutation_p.G133E|LRRC43_uc009zxn.2_Missense_Mutation_p.G79E	p.G318E	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	978	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		318					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.953G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643904	0.67244	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.72942	-0.7;-0.68;-0.2	5.23	5.23	0.72850	.	0.144353	0.45361	D	0.000369	D	0.84419	0.5468	M	0.73598	2.24	0.50313	D	0.999862	D	0.89917	1.0	D	0.97110	1.0	D	0.86269	0.1660	10	0.87932	D	0	-50.4709	18.415	0.90567	0.0:0.0:1.0:0.0	.	318	Q8N309	LRC43_HUMAN	E	133;318;189;133	ENSP00000438751:G133E;ENSP00000344233:G318E;ENSP00000416628:G133E	ENSP00000289014:G189E	G	+	2	0	LRRC43	121241931	1.000000	0.71417	0.115000	0.21578	0.245000	0.25701	6.804000	0.75186	2.462000	0.83206	0.467000	0.42956	GGA		0.527	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	45	0	0	0	0.003163	0	16	45				
SBNO1	55206	broad.mit.edu	37	12	123801789	123801789	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:123801789C>A	ENST00000602398.1	-	21	3041	c.2914G>T	c.(2914-2916)Gat>Tat	p.D972Y	SBNO1_ENST00000420886.2_Missense_Mutation_p.D972Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D971Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D971Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	972					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTGCTCTATCAGCGCTCCAA	0.413																																							uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(2914-2916)GAT>TAT		sno, strawberry notch homolog 1							152.0	140.0	144.0					12																	123801789		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123801789C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2914G>T	12.37:g.123801789C>A	ENSP00000473665:p.Asp972Tyr					SBNO1_uc010tao.1_Missense_Mutation_p.D971Y|SBNO1_uc010taq.1_Intron|SBNO1_uc001ues.1_5'Flank	p.D972Y	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	20	2914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		972					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.2914G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263963	0.80358	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.75938	-0.98;-0.98	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92918	0.6353	10	0.87932	D	0	-33.265	20.139	0.98050	0.0:1.0:0.0:0.0	.	972;971	A3KN83;A3KN83-2	SBNO1_HUMAN;.	Y	972;971	ENSP00000387361:D972Y;ENSP00000267176:D971Y	ENSP00000267176:D971Y	D	-	1	0	SBNO1	122367742	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.760000	0.85248	2.764000	0.94973	0.655000	0.94253	GAT		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	61	1	0	1.08611e-07	0.000978	1.56675e-07	11	61				
DNAH10	196385	broad.mit.edu	37	12	124382337	124382337	+	Missense_Mutation	SNP	G	G	T	rs568078474		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:124382337G>T	ENST00000409039.3	+	54	8972	c.8947G>T	c.(8947-8949)Gca>Tca	p.A2983S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2983	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATGATCCCGGCAGAAAATAT	0.428																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(8947-8949)GCA>TCA		dynein, axonemal, heavy chain 10							70.0	69.0	69.0					12																	124382337		1831	4098	5929	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124382337G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8947G>T	12.37:g.124382337G>T	ENSP00000386770:p.Ala2983Ser						p.A2983S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	54	8972	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2983			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8947G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242154	0.10077	.	.	ENSG00000197653	ENST00000409039	T	0.38887	1.11	4.76	-4.56	0.03431	Dynein heavy chain, P-loop containing D4 domain (1);	4.596990	0.00664	N	0.000610	T	0.20414	0.0491	N	0.17564	0.495	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.06661	-1.0814	10	0.14252	T	0.57	.	0.2509	0.00205	0.2924:0.2181:0.2557:0.2337	.	2983	Q8IVF4	DYH10_HUMAN	S	2983	ENSP00000386770:A2983S	ENSP00000386770:A2983S	A	+	1	0	DNAH10	122948290	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.052000	0.11865	-0.658000	0.05366	-0.311000	0.09066	GCA		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	73	1	0	3.45872e-05	0.004007	4.44929e-05	17	73				
GLT1D1	144423	broad.mit.edu	37	12	129373192	129373192	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:129373192A>G	ENST00000442111.2	+	3	314	c.226A>G	c.(226-228)Atc>Gtc	p.I76V	GLT1D1_ENST00000281703.6_Missense_Mutation_p.I76V|GLT1D1_ENST00000537468.1_Missense_Mutation_p.I65V|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	76					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AGGCCACCGAATCCCTTTTGG	0.453																																							uc010tbh.1		NA																	0					0						c.(193-195)ATC>GTC		glycosyltransferase 1 domain containing 1							107.0	95.0	99.0					12																	129373192		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129373192A>G		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.226A>G	12.37:g.129373192A>G	ENSP00000394692:p.Ile76Val					GLT1D1_uc001uhx.1_Missense_Mutation_p.I76V|GLT1D1_uc001uhy.1_RNA	p.I65V	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	3	202	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		76					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.193A>G		.	.	.	.	.	.	.	.	.	.	A	7.603	0.673175	0.14776	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79454	-1.27;0.8;-1.27	5.4	1.83	0.25207	.	0.232564	0.41712	N	0.000827	T	0.66954	0.2842	L	0.58101	1.795	0.40476	D	0.980399	B;B	0.23591	0.088;0.065	B;B	0.25140	0.058;0.041	T	0.53837	-0.8382	10	0.06757	T	0.87	-16.8431	8.2471	0.31695	0.7722:0.0:0.2278:0.0	.	65;76	F5H088;Q96MS3-2	.;.	V	76;76;65	ENSP00000394692:I76V;ENSP00000281703:I76V;ENSP00000438158:I65V	ENSP00000281703:I76V	I	+	1	0	GLT1D1	127939145	0.713000	0.27926	0.018000	0.16275	0.172000	0.22775	1.258000	0.32944	0.073000	0.16731	0.528000	0.53228	ATC		0.453	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		6	31	0	0	0	0.00308	0	6	31				
FZD10	11211	broad.mit.edu	37	12	130648759	130648759	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:130648759G>C	ENST00000229030.4	+	1	1756	c.1272G>C	c.(1270-1272)cgG>cgC	p.R424R	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.E392Q			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	424					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCACATCCGGAGGGTGATGA	0.622																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(1270-1272)CGG>CGC		frizzled 10 precursor							143.0	135.0	138.0					12																	130648759		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648759G>C	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1272G>C	12.37:g.130648759G>C						uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.R424R	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1728	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		424			Cytoplasmic (Potential).			Silent	SNP	ENST00000229030.4	37	c.1272G>C	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	6.588	0.476790	0.12521	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	-3.65	0.04502	.	.	.	.	.	T	0.66499	0.2795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67229	-0.5723	5	0.87932	D	0	.	10.5504	0.45085	0.184:0.5164:0.2996:0.0	.	.	.	.	Q	392	.	ENSP00000438460:E392Q	E	+	1	0	FZD10	129214712	0.001000	0.12720	0.314000	0.25224	0.974000	0.67602	-1.515000	0.02252	-1.276000	0.02414	-1.186000	0.01703	GAG		0.622	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	47	0	0	0	0.000978	0	12	47				
POLE	5426	broad.mit.edu	37	12	133218360	133218360	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:133218360C>A	ENST00000320574.5	-	39	5294	c.5251G>T	c.(5251-5253)Gcc>Tcc	p.A1751S	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.A1724S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1751					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGCTGTCGGCCCCCTCCATG	0.607								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5251-5253)GCC>TCC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							105.0	89.0	95.0					12																	133218360		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218360C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5251G>T	12.37:g.133218360C>A	ENSP00000322570:p.Ala1751Ser					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.A555S|POLE_uc010tbq.1_RNA	p.A1751S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	39	5295	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1751					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5251G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499160	0.26861	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.23147	1.92;1.92;1.92	5.43	4.54	0.55810	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.212856	0.48286	D	0.000199	T	0.17492	0.0420	N	0.25380	0.74	0.44862	D	0.997874	B	0.22604	0.072	B	0.30029	0.11	T	0.04840	-1.0923	10	0.10377	T	0.69	.	10.4641	0.44596	0.1336:0.7959:0.0:0.0706	.	1751	Q07864	DPOE1_HUMAN	S	1751;1762;1724	ENSP00000322570:A1751S;ENSP00000406383:A1762S;ENSP00000445753:A1724S	ENSP00000322570:A1751S	A	-	1	0	POLE	131728433	0.995000	0.38212	0.612000	0.29024	0.668000	0.39293	3.238000	0.51352	1.294000	0.44707	0.655000	0.94253	GCC		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	27	1	0	1.12685e-05	0.004482	1.48953e-05	8	27				
PXMP2	5827	broad.mit.edu	37	12	133277921	133277921	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:133277921T>A	ENST00000317479.3	+	4	550	c.485T>A	c.(484-486)cTa>cAa	p.L162Q	PXMP2_ENST00000428960.2_Missense_Mutation_p.L69Q|PXMP2_ENST00000545677.1_Silent_p.T33T|RP13-672B3.2_ENST00000537262.1_Silent_p.T33T|PXMP2_ENST00000539093.1_Silent_p.T33T|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	162						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TGGACGCCACTACAGTTCATC	0.577																																							uc001ukt.2		NA																	0					0						c.(484-486)CTA>CAA		peroxisomal membrane protein 2, 22kDa							57.0	55.0	56.0					12																	133277921		2203	4300	6503	SO:0001583	missense	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277921T>A		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.485T>A	12.37:g.133277921T>A	ENSP00000321271:p.Leu162Gln					PGAM5_uc010tbr.1_RNA	p.L162Q	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	4	550	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		162			Peroxisomal (Potential).			Missense_Mutation	SNP	ENST00000317479.3	37	c.485T>A	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193637	0.58017	.	.	ENSG00000176894	ENST00000317479;ENST00000428960	D;D	0.86497	-2.13;-2.13	5.22	5.22	0.72569	.	0.402075	0.26210	N	0.025682	D	0.90253	0.6952	M	0.67700	2.07	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	D	0.91097	0.4911	10	0.66056	D	0.02	.	13.3778	0.60750	0.0:0.0:0.0:1.0	.	162	Q9NR77	PXMP2_HUMAN	Q	162;69	ENSP00000321271:L162Q;ENSP00000398708:L69Q	ENSP00000321271:L162Q	L	+	2	0	PXMP2	131787994	0.996000	0.38824	0.784000	0.31847	0.033000	0.12548	3.824000	0.55723	2.110000	0.64415	0.491000	0.48974	CTA		0.577	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		18	50	0	0	0	0.00499	0	18	50				
KBTBD7	84078	broad.mit.edu	37	13	41768245	41768245	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:41768245A>G	ENST00000379483.3	-	1	457	c.149T>C	c.(148-150)cTg>cCg	p.L50P		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	50								p.L40fs*12(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GAGCTGTGCCAGCAGGGCTGC	0.627																																							uc001uxw.1		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(1)	1						c.(148-150)CTG>CCG		kelch repeat and BTB (POZ) domain containing 7							83.0	85.0	85.0					13																	41768245		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768245A>G	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.149T>C	13.37:g.41768245A>G	ENSP00000368797:p.Leu50Pro					uc001uxv.1_Intron	p.L50P	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	458	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	50					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.149T>C	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747037	0.69418	.	.	ENSG00000120696	ENST00000379483	T	0.74526	-0.85	4.99	4.99	0.66335	BTB/POZ fold (2);	0.254304	0.31963	U	0.006798	T	0.73505	0.3595	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.77477	-0.2573	10	0.87932	D	0	.	12.6043	0.56514	1.0:0.0:0.0:0.0	.	50	Q8WVZ9	KBTB7_HUMAN	P	50	ENSP00000368797:L50P	ENSP00000368797:L50P	L	-	2	0	KBTBD7	40666245	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.511000	0.90535	1.859000	0.53934	0.402000	0.26972	CTG		0.627	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		38	55	0	0	0	0.00623	0	38	55				
ZC3H13	23091	broad.mit.edu	37	13	46549882	46549882	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:46549882C>A	ENST00000242848.4	-	12	2352	c.2004G>T	c.(2002-2004)gtG>gtT	p.V668V	ZC3H13_ENST00000282007.3_Silent_p.V668V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	668	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCTATCATCCACTCTGTCTA	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(2002-2004)GTG>GTT		zinc finger CCCH-type containing 13							267.0	161.0	197.0					13																	46549882		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549882C>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2004G>T	13.37:g.46549882C>A						ZC3H13_uc001vas.1_Silent_p.V668V|ZC3H13_uc001vat.1_Silent_p.V668V	p.V668V	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2010	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	668			Arg/Glu-rich.|Potential.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2004G>T																																																																																					0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	20	1	0	3.09899e-07	0.004482	4.40883e-07	7	20				
KIAA0226L	80183	broad.mit.edu	37	13	46935586	46935586	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:46935586G>C	ENST00000429979.1	-	8	1713	c.1109C>G	c.(1108-1110)gCt>gGt	p.A370G	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A213G|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A370G|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A235G|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A370G|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A370G|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A213G|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A303G	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	370										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TATCGAGCCAGCTGCACTCAG	0.418																																							uc010acl.2		NA																	0					0						c.(1108-1110)GCT>GGT		hypothetical protein LOC80183							70.0	65.0	67.0					13																	46935586		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46935586G>C	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1109C>G	13.37:g.46935586G>C	ENSP00000396935:p.Ala370Gly					C13orf18_uc001vbf.3_Missense_Mutation_p.A303G|C13orf18_uc001vbg.3_Missense_Mutation_p.A98G|C13orf18_uc010tfz.1_Missense_Mutation_p.A213G|C13orf18_uc010acm.2_Missense_Mutation_p.A235G|C13orf18_uc010acn.2_Missense_Mutation_p.A155G|C13orf18_uc001vbe.3_Missense_Mutation_p.A370G|C13orf18_uc001vbh.3_Missense_Mutation_p.A370G|C13orf18_uc001vbi.3_Missense_Mutation_p.A213G|C13orf18_uc010aco.1_Missense_Mutation_p.A370G	p.A370G	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	8	1714	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	370					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1109C>G	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652786	0.29336	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.50813	0.76;0.73;0.74;0.76;0.73;0.77	5.5	4.61	0.57282	.	0.561756	0.18233	N	0.147505	T	0.51126	0.1656	M	0.64997	1.995	0.31331	N	0.684795	B;B;P;B;P;D	0.61697	0.278;0.278;0.666;0.451;0.775;0.99	B;B;B;B;B;P	0.48840	0.057;0.084;0.137;0.079;0.266;0.592	T	0.54662	-0.8260	10	0.24483	T	0.36	-5.7227	13.7486	0.62890	0.0:0.0:0.8476:0.1524	.	213;213;370;235;303;370	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	G	370;370;303;370;370;213;213;235	ENSP00000396935:A370G;ENSP00000368074:A370G;ENSP00000368061:A303G;ENSP00000374558:A370G;ENSP00000368064:A370G;ENSP00000437501:A235G	ENSP00000315633:A213G	A	-	2	0	KIAA0226L	45833587	0.006000	0.16342	0.009000	0.14445	0.251000	0.25915	1.465000	0.35299	2.743000	0.94032	0.643000	0.83706	GCT		0.418	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		8	29	0	0	0	0.004482	0	8	29				
CAB39L	81617	broad.mit.edu	37	13	49951112	49951112	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:49951112T>C	ENST00000355854.4	-	3	764	c.267A>G	c.(265-267)atA>atG	p.I89M	CAB39L_ENST00000347776.5_Missense_Mutation_p.I89M|CAB39L_ENST00000410043.1_Missense_Mutation_p.I89M|CAB39L_ENST00000409308.1_Missense_Mutation_p.I89M	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	89					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CCTCAAAGTCTATCAGCTGCA	0.423																																							uc001vcw.2		NA																	0					0						c.(265-267)ATA>ATG		calcium binding protein 39-like							101.0	97.0	99.0					13																	49951112		2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49951112T>C	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.267A>G	13.37:g.49951112T>C	ENSP00000348113:p.Ile89Met					CAB39L_uc001vcx.2_Missense_Mutation_p.I89M|CAB39L_uc010adf.2_Missense_Mutation_p.I86M	p.I89M	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	3	765	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	89					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.267A>G	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716039	0.48622	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.64	1.45	0.22620	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	L	0.57536	1.79	0.58432	D	0.999999	B	0.23058	0.079	P	0.45474	0.482	T	0.17653	-1.0362	9	.	.	.	-21.4975	8.1236	0.30986	0.1249:0.0:0.2609:0.6142	.	89	Q9H9S4	CB39L_HUMAN	M	89;89;86;89;52;89;89;89;89	ENSP00000348113:I89M;ENSP00000261669:I89M;ENSP00000386375:I89M;ENSP00000416719:I52M;ENSP00000386328:I89M;ENSP00000409253:I89M;ENSP00000404028:I89M;ENSP00000386979:I89M	.	I	-	3	3	CAB39L	48849113	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	0.292000	0.19011	0.365000	0.24400	0.533000	0.62120	ATA		0.423	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		24	39	0	0	0	0.005443	0	24	39				
SETDB2	83852	broad.mit.edu	37	13	50062476	50062476	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:50062476G>C	ENST00000317257.8	+	13	2488	c.1663G>C	c.(1663-1665)Gaa>Caa	p.E555Q	SETDB2_ENST00000354234.4_Missense_Mutation_p.E543Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	555	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TCTGCTGATTGAATCAGATGT	0.358																																							uc001vcz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1663-1665)GAA>CAA		SET domain, bifurcated 2 isoform a							72.0	77.0	75.0					13																	50062476		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50062476G>C	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1663G>C	13.37:g.50062476G>C	ENSP00000326477:p.Glu555Gln					SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.2_Missense_Mutation_p.E543Q	p.E555Q	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	13	2569	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	555			SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.1663G>C	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774734	0.16051	.	.	ENSG00000136169	ENST00000354234;ENST00000317257	D;D	0.86432	-2.12;-2.11	5.67	0.756	0.18421	SET domain (3);	1.004860	0.07993	N	0.987498	D	0.83335	0.5232	L	0.58101	1.795	0.09310	N	0.999999	B;B	0.31256	0.27;0.316	B;B	0.32864	0.067;0.154	T	0.72191	-0.4365	10	0.59425	D	0.04	.	5.4339	0.16469	0.3173:0.1388:0.5439:0.0	.	543;555	Q96T68-2;Q96T68	.;SETB2_HUMAN	Q	543;555	ENSP00000346175:E543Q;ENSP00000326477:E555Q	ENSP00000326477:E555Q	E	+	1	0	SETDB2	48960477	0.811000	0.29063	0.333000	0.25482	0.311000	0.27955	1.015000	0.29963	0.291000	0.22468	-0.176000	0.13171	GAA		0.358	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		9	71	0	0	0	0.006214	0	9	71				
CCDC70	83446	broad.mit.edu	37	13	52439669	52439669	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:52439669G>A	ENST00000242819.4	+	2	451	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAGGCTTTTCGCGAAGAGATG	0.512																																							uc001vfu.3		NA																	0					0						c.(154-156)CGC>CAC		coiled-coil domain containing 70 precursor							66.0	69.0	68.0					13																	52439669		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439669G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.155G>A	13.37:g.52439669G>A	ENSP00000242819:p.Arg52His					uc010tgr.1_RNA	p.R52H	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	451	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	52					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.155G>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711335	0.30322	.	.	ENSG00000123171	ENST00000242819	T	0.22134	1.97	5.55	1.75	0.24633	.	0.233858	0.30134	N	0.010334	T	0.30479	0.0766	M	0.70595	2.14	0.09310	N	1	D	0.58620	0.983	P	0.53861	0.736	T	0.13791	-1.0496	10	0.66056	D	0.02	-3.7611	5.0396	0.14452	0.154:0.0:0.4307:0.4154	.	52	Q6NSX1	CCD70_HUMAN	H	52	ENSP00000242819:R52H	ENSP00000242819:R52H	R	+	2	0	CCDC70	51337670	0.043000	0.20138	0.000000	0.03702	0.008000	0.06430	1.104000	0.31074	0.013000	0.14918	0.563000	0.77884	CGC		0.512	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		5	43	0	0	0	0.000602	0	5	43				
OLFM4	10562	broad.mit.edu	37	13	53617354	53617354	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:53617354T>A	ENST00000219022.2	+	4	763	c.685T>A	c.(685-687)Tct>Act	p.S229T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	229					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTGTGAGGCCTCTAAAGATCA	0.493																																							uc001vhl.2		NA																	0				skin(1)	1						c.(685-687)TCT>ACT		olfactomedin 4 precursor							138.0	131.0	134.0					13																	53617354		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53617354T>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.685T>A	13.37:g.53617354T>A	ENSP00000219022:p.Ser229Thr					OLFM4_uc001vhk.1_Intron	p.S229T	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	4	685	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	229			Potential.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.685T>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	T	9.770	1.172317	0.21704	.	.	ENSG00000102837	ENST00000219022	D	0.90069	-2.61	4.79	2.32	0.28847	.	0.836371	0.11007	N	0.609864	D	0.84247	0.5430	M	0.63843	1.955	0.09310	N	1	B	0.20368	0.044	B	0.17098	0.017	T	0.69684	-0.5079	10	0.30854	T	0.27	.	3.7061	0.08401	0.2015:0.182:0.0:0.6165	.	229	Q6UX06	OLFM4_HUMAN	T	229	ENSP00000219022:S229T	ENSP00000219022:S229T	S	+	1	0	OLFM4	52515355	0.014000	0.17966	0.111000	0.21465	0.012000	0.07955	0.890000	0.28295	0.286000	0.22352	-0.451000	0.05528	TCT		0.493	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		22	59	0	0	0	0.001882	0	22	59				
KLF12	11278	broad.mit.edu	37	13	74420040	74420040	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:74420040T>G	ENST00000377669.2	-	3	620	c.594A>C	c.(592-594)acA>acC	p.T198T	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.T198T	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	198					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ACCTTACAGCTGTGTAGACAA	0.493																																							uc001vjf.2		NA																	0				ovary(1)	1						c.(592-594)ACA>ACC		Kruppel-like factor 12							130.0	108.0	115.0					13																	74420040		2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420040T>G	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.594A>C	13.37:g.74420040T>G						KLF12_uc010aeq.2_Silent_p.T198T|KLF12_uc001vjg.3_Silent_p.T198T	p.T198T	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	816	-		Prostate(6;0.00217)|Breast(118;0.0838)	198					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.594A>C	CCDS9449.1																																																																																				0.493	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		20	109	0	0	0	0.00333	0	20	109				
LMO7	4008	broad.mit.edu	37	13	76382280	76382280	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:76382280G>A	ENST00000321797.8	+	8	1883	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	LMO7_ENST00000465261.2_Missense_Mutation_p.E388K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.E673K|LMO7_ENST00000377534.3_Missense_Mutation_p.E673K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	673					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGAGATGGGAGGCCATCCG	0.532																																							uc001vjv.2		NA																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(1162-1164)GAG>AAG		LIM domain only 7 isoform 2							68.0	65.0	66.0					13																	76382280		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76382280G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1162G>A	13.37:g.76382280G>A	ENSP00000317802:p.Glu388Lys					LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E294K	p.E388K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	7	1922	+		Breast(118;0.0992)	673					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1162G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.264386|4.264386	0.80358|0.80358	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261|ENST00000447038	T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.164161|.	0.52532|.	D|.	0.000067|.	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.67953|0.67953	2.075|2.075	0.54753|0.54753	D|D	0.999985|0.999985	D;D|.	0.67145|.	0.996;0.996|.	D;D|.	0.65443|.	0.913;0.935|.	T|T	0.72481|0.72481	-0.4280|-0.4280	10|5	0.15499|.	T|.	0.54|.	-23.8152|-23.8152	20.4387|20.4387	0.99107|0.99107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	673;388|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	K|E	673;673;388;388|296	ENSP00000349571:E673K;ENSP00000366757:E673K;ENSP00000317802:E388K;ENSP00000433352:E388K|.	ENSP00000317802:E388K|.	E|G	+|+	1|2	0|0	LMO7|LMO7	75280281|75280281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	4.928000|4.928000	0.63447|0.63447	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.532	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		7	52	0	0	0	0.00308	0	7	52				
GPC5	2262	broad.mit.edu	37	13	92560270	92560270	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:92560270G>T	ENST00000377067.3	+	6	1732	c.1360G>T	c.(1360-1362)Gtg>Ttg	p.V454L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	454					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AATTGATCCTGTGATAAATCA	0.353																																							uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1360-1362)GTG>TTG		glypican 5 precursor							62.0	63.0	63.0					13																	92560270		1344	2301	3645	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560270G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1360G>T	13.37:g.92560270G>T	ENSP00000366267:p.Val454Leu						p.V454L	NM_004466	NP_004457	P78333	GPC5_HUMAN			6	1726	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	454					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1360G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204825	0.38905	.	.	ENSG00000179399	ENST00000377067	T	0.51574	0.7	4.84	3.97	0.46021	.	0.420500	0.22323	N	0.061564	T	0.40839	0.1133	L	0.50333	1.59	0.40781	D	0.983177	B	0.32382	0.368	B	0.32090	0.14	T	0.39683	-0.9602	10	0.39692	T	0.17	-0.5277	11.3773	0.49735	0.0909:0.0:0.9091:0.0	.	454	P78333	GPC5_HUMAN	L	454	ENSP00000366267:V454L	ENSP00000366267:V454L	V	+	1	0	GPC5	91358271	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	4.699000	0.61796	2.404000	0.81709	0.585000	0.79938	GTG		0.353	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		10	46	1	0	3.07112e-06	0.000978	4.16617e-06	10	46				
DCT	1638	broad.mit.edu	37	13	95131399	95131399	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:95131399G>T	ENST00000377028.5	-	1	524	c.111C>A	c.(109-111)aaC>aaA	p.N37K	DCT_ENST00000446125.1_Missense_Mutation_p.N37K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	37					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCACTCCTTGTTCACTAGGC	0.622																																							uc001vlv.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(109-111)AAC>AAA		dopachrome tautomerase isoform 1							48.0	45.0	46.0					13																	95131399		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131399G>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.111C>A	13.37:g.95131399G>T	ENSP00000366227:p.Asn37Lys					DCT_uc010afh.2_Missense_Mutation_p.N37K	p.N37K	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	538	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	37			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.111C>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	9.203	1.029022	0.19512	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98987	-5.29;-5.3	4.89	3.13	0.36017	.	0.566811	0.20283	N	0.095407	D	0.96658	0.8909	L	0.36672	1.1	0.34311	D	0.685434	B;B	0.20459	0.045;0.015	B;B	0.18263	0.021;0.015	D	0.95788	0.8822	10	0.48119	T	0.1	0.0906	9.9736	0.41770	0.0756:0.2765:0.6479:0.0	.	37;37	Q09GT4;P40126	.;TYRP2_HUMAN	K	37	ENSP00000366227:N37K;ENSP00000392762:N37K	ENSP00000366227:N37K	N	-	3	2	DCT	93929400	1.000000	0.71417	0.546000	0.28166	0.071000	0.16799	1.409000	0.34680	0.460000	0.27045	-0.314000	0.08810	AAC		0.622	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			13	37	1	0	0.00010058	0.001368	0.000124382	13	37				
GPR183	1880	broad.mit.edu	37	13	99948198	99948198	+	Missense_Mutation	SNP	G	G	A	rs200952492		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:99948198G>A	ENST00000376414.4	-	2	285	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	68					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTTGAATAGAGGGTGGTAGAG	0.433																																							uc001vog.2		NA																	0					0						c.(202-204)CTC>TTC		EBV-induced G protein-coupled receptor 2							114.0	109.0	111.0					13																	99948198		2203	4300	6503	SO:0001583	missense	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99948198G>A	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.202C>T	13.37:g.99948198G>A	ENSP00000365596:p.Leu68Phe					UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	p.L68F	NM_004951	NP_004942	P32249	GP183_HUMAN			2	376	-			68			Cytoplasmic (Potential).		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	c.202C>T	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167416	0.57476	.	.	ENSG00000169508	ENST00000376414	T	0.22743	1.94	5.81	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.072984	0.56097	D	0.000032	T	0.33206	0.0855	L	0.42245	1.32	0.45035	D	0.998051	D	0.63880	0.993	D	0.68765	0.96	T	0.03773	-1.1005	9	.	.	.	.	8.7169	0.34416	0.0818:0.0:0.769:0.1492	.	68	P32249	GP183_HUMAN	F	68	ENSP00000365596:L68F	.	L	-	1	0	GPR183	98746199	0.956000	0.32656	1.000000	0.80357	0.998000	0.95712	1.486000	0.35530	1.363000	0.46019	0.655000	0.94253	CTC		0.433	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		9	57	0	0	0	0.006214	0	9	57				
ITGBL1	9358	broad.mit.edu	37	13	102359230	102359230	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:102359230T>A	ENST00000376180.3	+	9	1476	c.1257T>A	c.(1255-1257)gaT>gaA	p.D419E	ITGBL1_ENST00000376162.3_Missense_Mutation_p.D326E|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D278E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	419	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGCAGATGGCATATTGT	0.478																																							uc001vpb.2		NA																	0				ovary(1)|skin(1)	2						c.(1255-1257)GAT>GAA		integrin, beta-like 1 (with EGF-like repeat							166.0	141.0	150.0					13																	102359230		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359230T>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1257T>A	13.37:g.102359230T>A	ENSP00000365351:p.Asp419Glu					ITGBL1_uc010agb.2_Missense_Mutation_p.D370E|ITGBL1_uc001vpc.3_Missense_Mutation_p.D278E	p.D419E	NM_004791	NP_004782	O95965	ITGBL_HUMAN			9	1476	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		419			IX.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1257T>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068016	0.76301	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.96011	-3.88;-3.88;-3.88	5.42	2.93	0.34026	.	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	L	0.41079	1.255	0.42629	D	0.993374	D;D	0.76494	0.976;0.999	P;D	0.85130	0.609;0.997	D	0.92015	0.5621	10	0.23302	T	0.38	.	9.9405	0.41578	0.0:0.1395:0.0:0.8605	.	278;419	B3KTP1;O95965	.;ITGBL_HUMAN	E	419;327;278;278;326	ENSP00000365351:D419E;ENSP00000439903:D278E;ENSP00000365332:D326E	ENSP00000365332:D326E	D	+	3	2	ITGBL1	101157231	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.427000	0.21379	0.430000	0.26230	0.533000	0.62120	GAT		0.478	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		5	138	0	0	0	0.001168	0	5	138				
SOX1	6656	broad.mit.edu	37	13	112722023	112722023	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:112722023G>C	ENST00000330949.1	+	1	111	c.51G>C	c.(49-51)caG>caC	p.Q17H		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	17					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GCGGCGCCCAGGCCCCCACGA	0.791																																							uc001vsb.1		NA																	0					0						c.(49-51)CAG>CAC		SRY (sex determining region Y)-box 1							6.0	8.0	7.0					13																	112722023		1854	3937	5791	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722023G>C		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.51G>C	13.37:g.112722023G>C	ENSP00000330218:p.Gln17His						p.Q17H	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	111	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	17					Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.51G>C	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	g	12.30	1.896372	0.33442	.	.	ENSG00000182968	ENST00000330949	D	0.97404	-4.37	3.66	-0.207	0.13189	.	1.267990	0.06614	U	0.756113	D	0.92557	0.7636	N	0.19112	0.55	0.31401	N	0.676722	P	0.52316	0.952	B	0.43754	0.43	D	0.87736	0.2582	10	0.52906	T	0.07	.	4.5937	0.12319	0.3461:0.0:0.5104:0.1434	.	17	O00570	SOX1_HUMAN	H	17	ENSP00000330218:Q17H	ENSP00000330218:Q17H	Q	+	3	2	SOX1	111770024	1.000000	0.71417	0.001000	0.08648	0.872000	0.50106	0.889000	0.28282	-0.318000	0.08665	0.450000	0.29827	CAG		0.791	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	16	0	0	0	0.001984	0	5	16				
ATP11A	23250	broad.mit.edu	37	13	113481158	113481158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113481158G>T	ENST00000487903.1	+	12	1262	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	ATP11A_ENST00000375645.3_Nonsense_Mutation_p.E392*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.E392*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.E392*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	392					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGAGACTGGCGAGGGGCCTCT	0.527																																							uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(1174-1176)GAG>TAG		ATPase, class VI, type 11A isoform a							104.0	93.0	97.0					13																	113481158		2203	4300	6503	SO:0001587	stop_gained	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113481158G>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1174G>T	13.37:g.113481158G>T	ENSP00000420387:p.Glu392*					ATP11A_uc001vsj.3_Nonsense_Mutation_p.E392*|ATP11A_uc001vsm.1_Nonsense_Mutation_p.E268*	p.E392*	NM_015205	NP_056020	P98196	AT11A_HUMAN			12	1262	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	392			Cytoplasmic (Potential).		Q5VXT2	Nonsense_Mutation	SNP	ENST00000487903.1	37	c.1174G>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115390	0.94339	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	5.4	5.4	0.78164	.	0.046055	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.1818	0.93627	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000283558:E392X	E	+	1	0	ATP11A	112529159	1.000000	0.71417	0.287000	0.24848	0.004000	0.04260	7.307000	0.78920	2.537000	0.85549	0.650000	0.86243	GAG		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		12	60	1	0	5.50884e-06	0.001368	7.37624e-06	12	60				
F7	2155	broad.mit.edu	37	13	113771128	113771128	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113771128G>T	ENST00000375581.3	+	7	655	c.620G>T	c.(619-621)aGc>aTc	p.S207I	F7_ENST00000346342.3_Missense_Mutation_p.S185I|F7_ENST00000541084.1_Missense_Mutation_p.S138I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	207					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGAAATGCCAGCAAACCCCAA	0.483																																							uc001vsv.2		NA																	0					0						c.(619-621)AGC>ATC		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						69.0	76.0	74.0					13																	113771128		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113771128G>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.620G>T	13.37:g.113771128G>T	ENSP00000364731:p.Ser207Ile					F7_uc010agp.1_Missense_Mutation_p.S200I|F7_uc001vsw.2_Missense_Mutation_p.S185I|F7_uc010tjt.1_Missense_Mutation_p.S138I	p.S207I	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		7	671	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	207					B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.620G>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	9.222	1.033619	0.19590	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.96136	-3.92;-3.92;-3.92	5.25	1.49	0.22878	Peptidase cysteine/serine, trypsin-like (1);	0.620068	0.16715	N	0.202485	D	0.93536	0.7937	M	0.80028	2.48	0.09310	N	1	B;B;P;P	0.38078	0.099;0.06;0.617;0.483	B;B;B;B	0.33960	0.045;0.02;0.173;0.084	D	0.86321	0.1692	10	0.56958	D	0.05	.	9.2117	0.37322	0.1259:0.3472:0.5268:0.0	.	138;138;185;207	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	I	185;138;207	ENSP00000329546:S185I;ENSP00000442051:S138I;ENSP00000364731:S207I	ENSP00000329546:S185I	S	+	2	0	F7	112819129	0.349000	0.24870	0.003000	0.11579	0.313000	0.28021	0.930000	0.28858	-0.035000	0.13691	0.563000	0.77884	AGC		0.483	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		14	110	1	0	2.23348e-06	0.004007	3.05455e-06	14	110				
F7	2155	broad.mit.edu	37	13	113772915	113772915	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113772915A>T	ENST00000375581.3	+	9	1029	c.994A>T	c.(994-996)Acg>Tcg	p.T332S	F7_ENST00000346342.3_Missense_Mutation_p.T310S|F7_ENST00000541084.1_Missense_Mutation_p.T263S	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> M (in FA7D). {ECO:0000269|PubMed:11129332}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CTCTGAGAGGACGCTGGCCTT	0.677																																							uc001vsv.2		NA																	0					0						c.(994-996)ACG>TCG		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						60.0	51.0	54.0					13																	113772915		2203	4299	6502	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772915A>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.994A>T	13.37:g.113772915A>T	ENSP00000364731:p.Thr332Ser					F7_uc001vsw.2_Missense_Mutation_p.T310S|F7_uc010tjt.1_Missense_Mutation_p.T263S	p.T332S	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1045	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	332		T -> M (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.994A>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	A	8.827	0.939088	0.18281	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88124	-2.34;-2.34;-2.34	4.41	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.326246	0.31082	N	0.008284	T	0.82010	0.4944	L	0.33668	1.02	0.09310	N	1	P;P;P	0.38420	0.477;0.577;0.63	P;B;P	0.46659	0.46;0.317;0.523	T	0.73017	-0.4115	10	0.54805	T	0.06	.	4.4165	0.11459	0.6181:0.1998:0.1821:0.0	.	263;310;332	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	S	310;263;332	ENSP00000329546:T310S;ENSP00000442051:T263S;ENSP00000364731:T332S	ENSP00000329546:T310S	T	+	1	0	F7	112820916	0.391000	0.25221	0.054000	0.19295	0.005000	0.04900	2.985000	0.49362	1.848000	0.53677	0.383000	0.25322	ACG		0.677	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		5	33	0	0	0	0.001984	0	5	33				
CUL4A	8451	broad.mit.edu	37	13	113893788	113893788	+	Missense_Mutation	SNP	G	G	T	rs183455854	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113893788G>T	ENST00000375440.4	+	10	1042	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CUL4A_ENST00000326335.4_Missense_Mutation_p.A220S|CUL4A_ENST00000375441.3_Missense_Mutation_p.A220S|CUL4A_ENST00000451881.1_Missense_Mutation_p.A220S	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	320					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GCCGGACCTCGCACAGATGTA	0.582																																							uc010tjy.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(958-960)GCA>TCA		cullin 4A isoform 1							81.0	73.0	76.0					13																	113893788		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113893788G>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.958G>T	13.37:g.113893788G>T	ENSP00000364589:p.Ala320Ser					CUL4A_uc010tjx.1_Missense_Mutation_p.A220S|CUL4A_uc010agu.2_Missense_Mutation_p.A181S|CUL4A_uc010tjz.1_5'UTR	p.A320S	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		11	969	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	320					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.958G>T	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568975	0.00895	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.73	3.57	0.40892	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.165647	0.56097	D	0.000040	T	0.44953	0.1318	N	0.03324	-0.35	0.26423	N	0.976061	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.32981	-0.9886	10	0.02654	T	1	-17.8711	9.7277	0.40342	0.9157:0.0:0.0843:0.0	.	320;320	Q13619;A8MSH7	CUL4A_HUMAN;.	S	220;220;220;320	ENSP00000364590:A220S;ENSP00000389118:A220S;ENSP00000322132:A220S;ENSP00000364589:A320S	ENSP00000322132:A220S	A	+	1	0	CUL4A	112941789	0.995000	0.38212	0.955000	0.39395	0.023000	0.10783	1.985000	0.40668	0.775000	0.33450	-0.367000	0.07326	GCA		0.582	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		28	55	1	0	7.41945e-09	0.005443	1.12974e-08	28	55				
OR11H12	440153	broad.mit.edu	37	14	19378073	19378073	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:19378073C>A	ENST00000550708.1	+	1	552	c.480C>A	c.(478-480)gtC>gtA	p.V160V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAAACTGGTCATACTGTGCT	0.473																																							uc010tkp.1		NA																	0				ovary(2)	2						c.(478-480)GTC>GTA		olfactory receptor, family 11, subfamily H,							158.0	171.0	166.0					14																	19378073		2201	4294	6495	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378073C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.480C>A	14.37:g.19378073C>A							p.V160V	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	480	+	all_cancers(95;0.00108)		160			Helical; Name=4; (Potential).			Silent	SNP	ENST00000550708.1	37	c.480C>A	CCDS32017.1																																																																																				0.473	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		25	295	1	0	2.79863e-10	0.004656	4.48516e-10	25	295				
OR4N2	390429	broad.mit.edu	37	14	20295688	20295688	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20295688C>A	ENST00000315947.1	+	1	81	c.81C>A	c.(79-81)gtC>gtA	p.V27V	OR4N2_ENST00000568211.1_Silent_p.V27V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTCCTGGTCTTTGTGCTAG	0.438																																							uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(79-81)GTC>GTA		olfactory receptor, family 4, subfamily N,							172.0	192.0	185.0					14																	20295688		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295688C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.81C>A	14.37:g.20295688C>A							p.V27V	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	81	+	all_cancers(95;0.00108)		27			Helical; Name=1; (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.81C>A	CCDS32022.1																																																																																				0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			15	166	1	0	4.7546e-09	0.004007	7.32274e-09	15	166				
OR4K2	390431	broad.mit.edu	37	14	20344723	20344723	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20344723C>A	ENST00000298642.2	+	1	333	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	99						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)		GCTGCCTTACCCAGATATTCT	0.413																																							uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(295-297)ACC>ACA		olfactory receptor, family 4, subfamily K,							198.0	203.0	201.0					14																	20344723		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344723C>A		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.297C>A	14.37:g.20344723C>A							p.T99T	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	297	+	all_cancers(95;0.00108)		99			Extracellular (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.297C>A	CCDS32023.1																																																																																				0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			19	83	1	0	8.00594e-06	0.007413	1.06985e-05	19	83				
OR4K14	122740	broad.mit.edu	37	14	20483114	20483114	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20483114G>A	ENST00000305045.2	-	1	238	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCATCTTGGGAGTGGCAAA	0.488																																							uc010tky.1		NA																	0				skin(2)|large_intestine(1)	3						c.(238-240)CCC>CTC		olfactory receptor, family 4, subfamily K,							89.0	79.0	82.0					14																	20483114		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483114G>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.239C>T	14.37:g.20483114G>A	ENSP00000305011:p.Pro80Leu						p.P80L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	239	-	all_cancers(95;0.00108)		80			Helical; Name=2; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.239C>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	18.80	3.701323	0.68501	.	.	ENSG00000169484	ENST00000305045	T	0.01854	4.6	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000453	T	0.14056	0.0340	H	0.98048	4.135	0.52501	D	0.999958	P	0.51537	0.946	P	0.47786	0.557	T	0.35101	-0.9802	10	0.87932	D	0	.	15.7607	0.78076	0.0:0.0:1.0:0.0	.	80	Q8NGD5	OR4KE_HUMAN	L	80	ENSP00000305011:P80L	ENSP00000305011:P80L	P	-	2	0	OR4K14	19552954	1.000000	0.71417	0.990000	0.47175	0.656000	0.38851	5.066000	0.64351	2.235000	0.73313	0.603000	0.83216	CCC		0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			3	26	0	0	0	0.004672	0	3	26				
RNASE13	440163	broad.mit.edu	37	14	21502328	21502328	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:21502328G>T	ENST00000382951.3	-	2	257	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	40						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AGTTAACCCTGGGATAGTCAA	0.468																																							uc001vzj.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(118-120)CCC>CCA		ribonuclease, RNase A family, 13 precursor							102.0	94.0	97.0					14																	21502328		2203	4300	6503	SO:0001819	synonymous_variant	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502328G>T	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.120C>A	14.37:g.21502328G>T						NDRG2_uc010tll.1_Intron	p.P40P	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	258	-	all_cancers(95;0.000759)		40						Silent	SNP	ENST00000382951.3	37	c.120C>A	CCDS32039.1																																																																																				0.468	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			12	55	1	0	5.50884e-06	0.001368	7.37624e-06	12	55				
CMTM5	116173	broad.mit.edu	37	14	23847665	23847665	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:23847665C>T	ENST00000339180.4	+	2	450	c.234C>T	c.(232-234)gcC>gcT	p.A78A	CMTM5_ENST00000359320.3_Silent_p.A78A|CMTM5_ENST00000382809.2_Silent_p.A78A|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000397227.3_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	78	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TCCTCTATGCCACCCAGTACT	0.562																																							uc010akm.2		NA																	0					0						c.(232-234)GCC>GCT		chemokine-like factor superfamily 5 isoform a							234.0	200.0	212.0					14																	23847665		2203	4300	6503	SO:0001819	synonymous_variant	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847665C>T	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.234C>T	14.37:g.23847665C>T						CMTM5_uc001wjs.2_Silent_p.A78A|CMTM5_uc001wjt.2_Silent_p.A78A|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	p.A78A	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	2	678	+	all_cancers(95;2e-05)		78			MARVEL.		E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37	c.234C>T																																																																																					0.562	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			17	95	0	0	0	0.007413	0	17	95				
NOVA1	4857	broad.mit.edu	37	14	26917911	26917911	+	Missense_Mutation	SNP	C	C	A	rs200148996		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:26917911C>A	ENST00000539517.2	-	5	1095	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	NOVA1_ENST00000267422.7_Missense_Mutation_p.G138C|NOVA1_ENST00000465357.2_Missense_Mutation_p.G236C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	263					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCACTGGACCTGTCACATTG	0.453																																							uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(778-780)GGT>TGT		neuro-oncological ventral antigen 1 isoform 1							193.0	173.0	180.0					14																	26917911		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917911C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.778G>T	14.37:g.26917911C>A	ENSP00000438875:p.Gly260Cys					NOVA1_uc001wpz.2_Missense_Mutation_p.G236C|NOVA1_uc001wqa.2_Missense_Mutation_p.G138C	p.G260C	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1096	-			263					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.778G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880607	0.72294	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.40756	1.11;1.03;1.02;1.19	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.61113	-0.7128	10	0.40728	T	0.16	-8.9696	19.8956	0.96956	0.0:1.0:0.0:0.0	.	263;236;260	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	C	236;260;138;219	ENSP00000447391:G236C;ENSP00000438875:G260C;ENSP00000267422:G138C;ENSP00000408914:G219C	ENSP00000267422:G138C	G	-	1	0	NOVA1	25987751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.708000	0.92522	0.563000	0.77884	GGT		0.453	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		10	109	1	0	5.16669e-11	0.000978	8.46202e-11	10	109				
STRN3	29966	broad.mit.edu	37	14	31381009	31381009	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:31381009C>T	ENST00000357479.5	-	12	1768	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	STRN3_ENST00000366206.2_5'Flank|STRN3_ENST00000355683.5_Silent_p.E440E	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	524					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGTAGATAGGCTCTACATCTA	0.338																																							uc001wqu.2		NA																	0					0						c.(1570-1572)GAG>GAA		nuclear autoantigen isoform 1							50.0	51.0	51.0					14																	31381009		2203	4300	6503	SO:0001819	synonymous_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31381009C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1572G>A	14.37:g.31381009C>T						STRN3_uc001wqv.2_Silent_p.E440E|STRN3_uc010tpj.1_RNA	p.E524E	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	12	1788	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		524					A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	c.1572G>A	CCDS41938.1																																																																																				0.338	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		12	28	0	0	0	0.001368	0	12	28				
PNN	5411	broad.mit.edu	37	14	39644500	39644500	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:39644500G>A	ENST00000216832.4	+	1	84	c.17G>A	c.(16-18)aGa>aAa	p.R6K	PNN_ENST00000553331.1_Missense_Mutation_p.R6K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.R6K	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	6	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTCGCCGTGAGAACTTTGCAG	0.592																																							uc001wuw.3		NA																	0				ovary(1)	1						c.(16-18)AGA>AAA		pinin, desmosome associated protein							54.0	47.0	49.0					14																	39644500		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39644500G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.17G>A	14.37:g.39644500G>A	ENSP00000216832:p.Arg6Lys						p.R6K	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	1	114	+	Hepatocellular(127;0.213)		6			Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.17G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318583	0.95682	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.34072	1.38	6.06	6.06	0.98353	Pinin/SDK (2);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.51434	-0.8706	10	0.51188	T	0.08	-14.2531	20.6243	0.99512	0.0:0.0:1.0:0.0	.	6	Q9H307	PININ_HUMAN	K	6	ENSP00000216832:R6K	ENSP00000216832:R6K	R	+	2	0	PNN	38714251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.197000	0.94985	2.879000	0.98667	0.650000	0.86243	AGA		0.592	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	9	0	0	0	0.004672	0	3	9				
MIA2	117153	broad.mit.edu	37	14	39716500	39716500	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:39716500C>T	ENST00000280082.3	+	4	921	c.722C>T	c.(721-723)tCa>tTa	p.S241L	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S241L|MIA2_ENST00000556784.1_Missense_Mutation_p.S240L	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	241					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GCTTTTGAATCAGTTATTGAA	0.418																																							uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(721-723)TCA>TTA		melanoma inhibitory activity 2							79.0	80.0	80.0					14																	39716500		2203	4300	6503	SO:0001583	missense	117153					extracellular region		g.chr14:39716500C>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.722C>T	14.37:g.39716500C>T	ENSP00000280082:p.Ser241Leu					MIA2_uc010amy.1_Missense_Mutation_p.S172L	p.S241L	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	916	+	Hepatocellular(127;0.213)		241					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.722C>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719434	0.30503	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.47869	0.83;0.85;3.2	5.81	4.92	0.64577	.	0.461541	0.16282	N	0.221306	T	0.43033	0.1229	L	0.56769	1.78	0.18873	N	0.999982	B;B	0.23806	0.055;0.091	B;B	0.22386	0.018;0.039	T	0.19679	-1.0298	9	.	.	.	-16.8454	10.6244	0.45500	0.0:0.8033:0.0:0.1967	.	241;241	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	L	241;240;241	ENSP00000280082:S241L;ENSP00000451934:S240L;ENSP00000452252:S241L	.	S	+	2	0	MIA2;RP11-407N17.3	38786251	0.001000	0.12720	0.485000	0.27403	0.686000	0.39977	0.313000	0.19415	2.755000	0.94549	0.650000	0.86243	TCA		0.418	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		13	41	0	0	0	0.001368	0	13	41				
LRFN5	145581	broad.mit.edu	37	14	42356411	42356411	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:42356411C>A	ENST00000298119.4	+	3	1772	c.583C>A	c.(583-585)Cac>Aac	p.H195N	LRFN5_ENST00000554120.1_Missense_Mutation_p.H195N|LRFN5_ENST00000554171.1_Missense_Mutation_p.H195N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	195						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCCCATTTGCACAAGATGAC	0.438										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(583-585)CAC>AAC		leucine rich repeat and fibronectin type III							70.0	62.0	65.0					14																	42356411		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356411C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.583C>A	14.37:g.42356411C>A	ENSP00000298119:p.His195Asn	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.H195N	p.H195N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1781	+			195			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.583C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911543	0.33721	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51574	0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000020	T	0.30008	0.0751	N	0.04820	-0.15	0.58432	D	0.999995	B;B	0.20052	0.005;0.041	B;B	0.24701	0.008;0.055	T	0.11743	-1.0575	10	0.20519	T	0.43	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	195;195	G3V364;Q96NI6	.;LRFN5_HUMAN	N	195	ENSP00000298119:H195N;ENSP00000451897:H195N;ENSP00000451067:H195N	ENSP00000298119:H195N	H	+	1	0	LRFN5	41426161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	CAC		0.438	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		8	31	1	0	0.000157383	0.00308	0.000191976	8	31				
RPL10L	140801	broad.mit.edu	37	14	47120508	47120508	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:47120508G>T	ENST00000298283.3	-	1	520	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	144					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATGCTCCTCGTTCTGAAGCT	0.522																																							uc001wwg.2		NA																	0				ovary(1)	1						c.(430-432)AAC>AAA		ribosomal protein L10-like protein							81.0	80.0	80.0					14																	47120508		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120508G>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.432C>A	14.37:g.47120508G>T	ENSP00000298283:p.Asn144Lys						p.N144K	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	521	-			144					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.432C>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684338	0.68157	.	.	ENSG00000165496	ENST00000298283	T	0.72394	-0.65	4.38	3.46	0.39613	Ribosomal protein L10e/L16 (2);	0.096036	0.64402	D	0.000002	T	0.77731	0.4174	L	0.58810	1.83	0.58432	D	0.999999	B	0.31640	0.333	P	0.54544	0.755	T	0.76977	-0.2759	10	0.54805	T	0.06	-53.7752	6.3821	0.21540	0.2237:0.0:0.7763:0.0	.	144	Q96L21	RL10L_HUMAN	K	144	ENSP00000298283:N144K	ENSP00000298283:N144K	N	-	3	2	RPL10L	46190258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.769000	0.62300	1.374000	0.46228	0.655000	0.94253	AAC		0.522	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			20	59	1	0	6.33239e-15	0.001523	1.13392e-14	20	59				
NID2	22795	broad.mit.edu	37	14	52472512	52472512	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:52472512G>T	ENST00000216286.5	-	21	4059	c.4060C>A	c.(4060-4062)Cca>Aca	p.P1354T	NID2_ENST00000541773.1_Missense_Mutation_p.P1253T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1354					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGTTGTTCTGGGAGATACTCA	0.423																																							uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(4060-4062)CCA>ACA		nidogen 2 precursor							134.0	120.0	125.0					14																	52472512		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52472512G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.4060C>A	14.37:g.52472512G>T	ENSP00000216286:p.Pro1354Thr					NID2_uc010tqs.1_Missense_Mutation_p.P1306T|NID2_uc010tqt.1_Missense_Mutation_p.P1354T	p.P1354T	NM_007361	NP_031387	Q14112	NID2_HUMAN			21	4294	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1354			LDL-receptor class B 5.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.4060C>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179012|5.179012	0.94846|0.94846	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|T;T	.|0.27720	.|1.65;1.65	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Six-bladed beta-propeller, TolB-like (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.55497|0.55497	0.1924|0.1924	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.916	.|D;D;P	.|0.97110	.|0.998;1.0;0.873	T|T	0.40384|0.40384	-0.9566|-0.9566	6|10	.|0.42905	.|T	.|0.14	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|948;1253;1354	.|E7EPP3;Q14112-2;Q14112	.|.;.;NID2_HUMAN	H|T	622|1354;948;1253	.|ENSP00000216286:P1354T;ENSP00000443730:P1253T	.|ENSP00000216286:P1354T	P|P	-|-	2|1	0|0	NID2|NID2	51542262|51542262	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.997000|0.997000	0.91878|0.91878	9.586000|9.586000	0.98226|0.98226	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.423	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			11	74	1	0	0.000673444	0.008291	0.000798266	11	74				
NID2	22795	broad.mit.edu	37	14	52534799	52534799	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:52534799G>T	ENST00000216286.5	-	2	310	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	NID2_ENST00000541773.1_Missense_Mutation_p.P51Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	104					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGCGATGGCCGGGAAGTCGGT	0.642																																							uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(310-312)CCG>CAG		nidogen 2 precursor							44.0	53.0	50.0					14																	52534799		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534799G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.311C>A	14.37:g.52534799G>T	ENSP00000216286:p.Pro104Gln					NID2_uc010tqs.1_Missense_Mutation_p.P104Q|NID2_uc010tqt.1_Missense_Mutation_p.P104Q|NID2_uc001wzp.2_Missense_Mutation_p.P104Q	p.P104Q	NM_007361	NP_031387	Q14112	NID2_HUMAN			2	545	-	Breast(41;0.0639)|all_epithelial(31;0.123)		104					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.311C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575385	0.86645	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	D;D	0.85411	-1.98;-1.81	5.48	4.59	0.56863	.	0.047900	0.85682	D	0.000000	D	0.91439	0.7298	M	0.76838	2.35	0.47949	D	0.99955	D;D;D	0.71674	0.982;0.991;0.998	P;D;P	0.63283	0.842;0.913;0.898	D	0.92431	0.5954	10	0.66056	D	0.02	.	16.312	0.82874	0.0:0.1326:0.8674:0.0	.	51;106;104	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	Q	104;104;51;106	ENSP00000216286:P104Q;ENSP00000443730:P51Q	ENSP00000216286:P104Q	P	-	2	0	NID2	51604549	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.360000	0.79487	1.298000	0.44778	0.563000	0.77884	CCG		0.642	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			7	25	1	0	1.26484e-09	0.00308	1.98445e-09	7	25				
TXNDC16	57544	broad.mit.edu	37	14	52936794	52936794	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:52936794C>A	ENST00000281741.4	-	16	1950	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	527					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AATACTGACACACTAGAATAC	0.343																																							uc001wzs.2		NA																	0					0						c.(1579-1581)GTG>TTG		thioredoxin domain containing 16 isoform 1							92.0	94.0	93.0					14																	52936794		2203	4295	6498	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52936794C>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1579G>T	14.37:g.52936794C>A	ENSP00000281741:p.Val527Leu					TXNDC16_uc010tqu.1_Missense_Mutation_p.V522L|TXNDC16_uc010aoe.2_RNA	p.V527L	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			16	2028	-	Breast(41;0.0716)		527					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1579G>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044190	0.19748	.	.	ENSG00000087301	ENST00000281741	T	0.20332	2.08	5.2	2.34	0.29019	.	0.593369	0.16809	N	0.198634	T	0.13329	0.0323	L	0.36672	1.1	0.29550	N	0.8514	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.16958	-1.0385	10	0.38643	T	0.18	-37.0201	2.5171	0.04671	0.1518:0.5354:0.1473:0.1655	.	522;527	B7ZME4;Q9P2K2	.;TXD16_HUMAN	L	527	ENSP00000281741:V527L	ENSP00000281741:V527L	V	-	1	0	TXNDC16	52006544	0.002000	0.14202	0.319000	0.25293	0.736000	0.42039	-0.011000	0.12721	0.277000	0.22141	-0.252000	0.11476	GTG		0.343	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		7	75	1	0	8.12818e-05	0.001984	0.000101263	7	75				
EXOC5	10640	broad.mit.edu	37	14	57699436	57699436	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:57699436C>A	ENST00000413566.2	-	10	1246	c.887G>T	c.(886-888)aGg>aTg	p.R296M	EXOC5_ENST00000340918.7_Missense_Mutation_p.R231M	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	296					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCGGACTTCCTACATTCTTC	0.254																																							uc001xct.2		NA																	0				ovary(2)|breast(1)	3						c.(886-888)AGG>ATG		SEC10 protein							58.0	55.0	56.0					14																	57699436		1783	4055	5838	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57699436C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.887G>T	14.37:g.57699436C>A	ENSP00000389934:p.Arg296Met					EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Missense_Mutation_p.R241M|EXOC5_uc010trh.1_Missense_Mutation_p.R231M	p.R296M	NM_006544	NP_006535	O00471	EXOC5_HUMAN			10	1138	-			296					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.887G>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861838	0.71949	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.46819	0.87;0.86	5.5	3.68	0.42216	.	0.136639	0.64402	D	0.000004	T	0.48537	0.1505	L	0.44542	1.39	0.53688	D	0.999976	P;D	0.55172	0.763;0.97	P;P	0.53266	0.621;0.722	T	0.34054	-0.9844	10	0.34782	T	0.22	-0.6966	10.0632	0.42288	0.0:0.7843:0.0:0.2157	.	231;296	F8W9B8;O00471	.;EXOC5_HUMAN	M	296;231	ENSP00000389934:R296M;ENSP00000342100:R231M	ENSP00000342100:R231M	R	-	2	0	EXOC5	56769189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.379000	0.44318	0.689000	0.31550	0.655000	0.94253	AGG		0.254	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		14	35	1	0	2.48551e-13	0.00499	4.31828e-13	14	35				
SYNE2	23224	broad.mit.edu	37	14	64537540	64537540	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:64537540A>T	ENST00000344113.4	+	52	10821	c.10609A>T	c.(10609-10611)Agt>Tgt	p.S3537C	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3570C|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3537C|SYNE2_ENST00000555002.1_Missense_Mutation_p.S171C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3537					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGCATCAGAAGTATCCAGAA	0.428																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10609-10611)AGT>TGT		spectrin repeat containing, nuclear envelope 2							82.0	79.0	80.0					14																	64537540		1910	4122	6032	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64537540A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10609A>T	14.37:g.64537540A>T	ENSP00000341781:p.Ser3537Cys					SYNE2_uc001xgl.2_Missense_Mutation_p.S3537C|SYNE2_uc010apw.1_Missense_Mutation_p.S243C	p.S3537C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	52	10839	+			3537			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10609A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333530	0.24167	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.61040	0.5;0.5;0.14;3.85	5.47	4.34	0.51931	.	0.406771	0.23367	N	0.048953	T	0.58235	0.2108	L	0.27053	0.805	0.37234	D	0.905824	D;D	0.69078	0.994;0.997	P;P	0.58873	0.707;0.847	T	0.64153	-0.6474	10	0.56958	D	0.05	.	11.064	0.47964	0.9275:0.0:0.0725:0.0	.	3537;3537	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	C	3537;3537;3570;3570;171	ENSP00000350719:S3537C;ENSP00000341781:S3537C;ENSP00000452570:S3570C;ENSP00000450831:S171C	ENSP00000261678:S3570C	S	+	1	0	SYNE2	63607293	0.959000	0.32827	0.008000	0.14137	0.409000	0.31022	3.729000	0.54999	0.918000	0.36919	0.533000	0.62120	AGT		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		12	39	0	0	0	0.000978	0	12	39				
SYNE2	23224	broad.mit.edu	37	14	64564793	64564793	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:64564793G>A	ENST00000344113.4	+	62	12447	c.12235G>A	c.(12235-12237)Gaa>Aaa	p.E4079K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E464K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E464K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4112K|MIR548H1_ENST00000408610.1_RNA|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4079K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E713K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4079					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAGGAGTAGAAAGAGATAG	0.483																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12235-12237)GAA>AAA		spectrin repeat containing, nuclear envelope 2							146.0	150.0	149.0					14																	64564793		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64564793G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12235G>A	14.37:g.64564793G>A	ENSP00000341781:p.Glu4079Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E4079K|SYNE2_uc010apy.2_Missense_Mutation_p.E464K|SYNE2_uc010apx.1_Missense_Mutation_p.E471K|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank	p.E4079K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	62	12465	+			4079			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.12235G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391982	0.42410	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59364	0.69;4.0;0.69;0.27;4.05;4.0	5.78	5.78	0.91487	.	0.206691	0.33631	N	0.004713	T	0.50837	0.1639	N	0.24115	0.695	0.80722	D	1	P;P;B;P	0.40970	0.728;0.734;0.023;0.718	B;B;B;B	0.42798	0.366;0.398;0.008;0.215	T	0.53892	-0.8374	10	0.54805	T	0.06	.	17.4802	0.87671	0.0:0.0:1.0:0.0	.	464;4113;4079;4079	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	4079;464;4079;4112;4112;713;464	ENSP00000350719:E4079K;ENSP00000349969:E464K;ENSP00000341781:E4079K;ENSP00000452570:E4112K;ENSP00000450831:E713K;ENSP00000378249:E464K	ENSP00000261678:E4112K	E	+	1	0	SYNE2	63634546	0.906000	0.30813	0.027000	0.17364	0.076000	0.17211	5.690000	0.68241	2.734000	0.93682	0.585000	0.79938	GAA		0.483	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	77	0	0	0	0.001984	0	5	77				
FUT8	2530	broad.mit.edu	37	14	66028258	66028258	+	5'UTR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:66028258G>T	ENST00000360689.5	+	0	1704				FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_5'UTR|FUT8_ENST00000394585.1_5'UTR|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)						cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGGACTCCAGGGAAGTGAGT	0.428																																							uc001xin.2		NA																	0				ovary(1)	1						c.(-25--21)CAGGG>CATGG		fucosyltransferase 8 isoform a							106.0	102.0	103.0					14																	66028258		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028258G>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.-24G>T	14.37:g.66028258G>T						FUT8_uc001xio.2_Translation_Start_Site|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Translation_Start_Site|FUT8_uc001xiq.2_Intron		NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1174	+								B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Translation_Start_Site	SNP	ENST00000360689.5	37	c.-23G>T	CCDS9775.1																																																																																				0.428	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		37	76	1	0	9.04072e-19	0.003271	1.71493e-18	37	76				
YBX1P1	50631	broad.mit.edu	37	14	66479778	66479778	+	RNA	SNP	C	C	T	rs552011061	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:66479778C>T	ENST00000458915.1	-	0	0																											AGAGGAGGGCCTCTGCGGAAT	0.522																																							uc001xit.2		NA																	0					NA						c.(730-732)GGC>AGC		SubName: Full=Nuclease sensitive element binding protein-1;																																						0							g.chr14:66479778C>T																													14.37:g.66479778C>T							p.G244S							1	855	-									Missense_Mutation	SNP	ENST00000458915.1	37	c.730G>A																																																																																					0.522	AL391261.1-201	NOVEL	basic	miRNA	miRNA				12	49	0	0	0	0.000978	0	12	49				
ADAM21	8747	broad.mit.edu	37	14	70925550	70925550	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:70925550C>T	ENST00000603540.1	+	2	1592	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	ADAM21_ENST00000267499.3_Missense_Mutation_p.A445V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	445	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGGGGCTGCCTGTGCTTTT	0.498																																							uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(1333-1335)GCC>GTC		ADAM metallopeptidase domain 21 preproprotein							64.0	62.0	62.0					14																	70925550		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925550C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1334C>T	14.37:g.70925550C>T	ENSP00000474385:p.Ala445Val						p.A445V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1334	+			445			Disintegrin.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1334C>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522967	0.27211	.	.	ENSG00000139985	ENST00000267499	T	0.11495	2.77	4.48	3.51	0.40186	Blood coagulation inhibitor, Disintegrin (5);	0.315950	0.22398	N	0.060589	T	0.04952	0.0133	N	0.13371	0.34	0.09310	N	0.999993	B	0.11235	0.004	B	0.17979	0.02	T	0.35748	-0.9776	10	0.21540	T	0.41	.	2.7769	0.05350	0.2628:0.4888:0.1528:0.0957	.	445	Q9UKJ8	ADA21_HUMAN	V	445	ENSP00000267499:A445V	ENSP00000267499:A445V	A	+	2	0	ADAM21	69995303	0.000000	0.05858	0.978000	0.43139	0.710000	0.40934	-0.224000	0.09164	2.480000	0.83734	0.557000	0.71058	GCC		0.498	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			27	46	0	0	0	0.005443	0	27	46				
SIPA1L1	26037	broad.mit.edu	37	14	72196853	72196853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:72196853G>T	ENST00000555818.1	+	18	5107	c.4759G>T	c.(4759-4761)Gag>Tag	p.E1587*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.E1566*|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.E1566*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.E1041*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1587					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGTCGGACGAGAGCATTTA	0.567																																							uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(4759-4761)GAG>TAG		signal-induced proliferation-associated 1 like							97.0	84.0	88.0					14																	72196853		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72196853G>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4759G>T	14.37:g.72196853G>T	ENSP00000450832:p.Glu1587*					SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E1566*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E1566*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E1587*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E1041*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.E352*	p.E1587*	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	18	5107	+			1587					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.4759G>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	45	11.349110	0.99549	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.34	5.34	0.76211	.	0.045838	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.798	19.0376	0.92985	0.0:0.0:1.0:0.0	.	.	.	.	X	1566;1587;1566;1041	.	ENSP00000351352:E1587X	E	+	1	0	SIPA1L1	71266606	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	9.300000	0.96151	2.491000	0.84063	0.462000	0.41574	GAG		0.567	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	58	1	0	1.12685e-05	0.004482	1.48953e-05	9	58				
ZFYVE1	53349	broad.mit.edu	37	14	73464728	73464728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:73464728G>C	ENST00000556143.1	-	3	1499	c.779C>G	c.(778-780)tCa>tGa	p.S260*	ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.S260*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.S260*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	260					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GACGAGGTCTGAGATGGCCAG	0.527																																							uc001xnm.2		NA																	0				skin(1)	1						c.(778-780)TCA>TGA		zinc finger, FYVE domain containing 1 isoform 1							133.0	111.0	119.0					14																	73464728		2203	4300	6503	SO:0001587	stop_gained	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464728G>C	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.779C>G	14.37:g.73464728G>C	ENSP00000450742:p.Ser260*					ZFYVE1_uc010arj.2_Nonsense_Mutation_p.S260*	p.S260*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1419	-		all_lung(585;1.33e-09)	260					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	c.779C>G	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	43	10.025929	0.99320	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	.	.	.	5.82	5.82	0.92795	.	0.067952	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0284	20.089	0.97809	0.0:0.0:1.0:0.0	.	.	.	.	X	260	.	ENSP00000326921:S260X	S	-	2	0	ZFYVE1	72534481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.961000	0.87903	2.765000	0.95021	0.591000	0.81541	TCA		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		3	42	0	0	0	0.004672	0	3	42				
NGB	58157	broad.mit.edu	37	14	77734877	77734877	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:77734877G>T	ENST00000298352.4	-	3	627	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	85	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TACTCCTCCAGTGAGGACAGG	0.587																																							uc001xtg.1		NA																	0					0						c.(253-255)CTG>ATG		neuroglobin							140.0	112.0	122.0					14																	77734877		2203	4300	6503	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77734877G>T	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.253C>A	14.37:g.77734877G>T	ENSP00000298352:p.Leu85Met						p.L85M	NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	3	628	-			85			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.253C>A	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440918	0.63067	.	.	ENSG00000165553	ENST00000298352	D	0.94330	-3.4	4.44	2.11	0.27256	Globin-like (1);Globin, structural domain (1);	0.080670	0.52532	D	0.000063	D	0.94631	0.8269	M	0.76727	2.345	0.53005	D	0.999968	P	0.50272	0.933	P	0.56042	0.79	D	0.94080	0.7343	10	0.72032	D	0.01	.	11.0438	0.47846	0.198:0.0:0.802:0.0	.	85	Q9NPG2	NGB_HUMAN	M	85	ENSP00000298352:L85M	ENSP00000298352:L85M	L	-	1	2	NGB	76804630	0.996000	0.38824	0.825000	0.32803	0.974000	0.67602	2.426000	0.44731	0.828000	0.34709	0.491000	0.48974	CTG		0.587	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		15	81	1	0	2.23348e-06	0.004007	3.05455e-06	15	81				
NRXN3	9369	broad.mit.edu	37	14	79434582	79434582	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:79434582G>T	ENST00000554719.1	+	11	2407	c.1916G>T	c.(1915-1917)cGa>cTa	p.R639L	NRXN3_ENST00000335750.5_Missense_Mutation_p.R639L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	245					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGCCTCTCGAGATGGCTTT	0.522																																							uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1915-1917)CGA>CTA		neurexin 3 isoform 1 precursor							131.0	115.0	120.0					14																	79434582		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79434582G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1916G>T	14.37:g.79434582G>T	ENSP00000451648:p.Arg639Leu					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R764L	p.R639L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2407	+		Renal(4;0.00876)	1012			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1916G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024613	0.93518	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.74632	-0.86;-0.86	6.03	6.03	0.97812	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	0.87337	0.6152	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.521	D;B	0.91635	0.999;0.272	D	0.85925	0.1448	8	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1012;639	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	L	1012;1001;639;639	ENSP00000451648:R639L;ENSP00000338349:R639L	.	R	+	2	0	NRXN3	78504335	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.968000	0.87980	2.854000	0.98071	0.655000	0.94253	CGA		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		15	51	1	0	6.31663e-08	0.003163	9.24099e-08	15	51				
CEP128	145508	broad.mit.edu	37	14	81259284	81259284	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:81259284C>G	ENST00000555265.1	-	14	1755	c.1380G>C	c.(1378-1380)cgG>cgC	p.R460R	CEP128_ENST00000281129.3_Silent_p.R460R			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	460						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						CACTGAGGTACCGCTCAGCCT	0.537																																							uc001xux.2		NA																	0					0						c.(1378-1380)CGG>CGC		hypothetical protein LOC145508							161.0	141.0	148.0					14																	81259284		2203	4300	6503	SO:0001819	synonymous_variant	145508					centriole|spindle pole		g.chr14:81259284C>G	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.1380G>C	14.37:g.81259284C>G						C14orf145_uc010asz.1_RNA	p.R460R	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	13	1551	-			460			Potential.		B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	c.1380G>C	CCDS32130.1																																																																																				0.537	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		8	75	0	0	0	0.004482	0	8	75				
GALC	2581	broad.mit.edu	37	14	88442730	88442730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:88442730C>A	ENST00000261304.2	-	7	830	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	GALC_ENST00000393569.2_Nonsense_Mutation_p.E216*|GALC_ENST00000544807.2_Nonsense_Mutation_p.E186*|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Nonsense_Mutation_p.E219*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	242					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGAAGAGTTCGGCATCAAGG	0.398																																							uc001xvt.2		NA																	0					0						c.(724-726)GAA>TAA		galactosylceramidase isoform a precursor							116.0	107.0	110.0					14																	88442730		1920	4136	6056	SO:0001587	stop_gained	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88442730C>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.724G>T	14.37:g.88442730C>A	ENSP00000261304:p.Glu242*					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Nonsense_Mutation_p.E216*|GALC_uc010tvy.1_Nonsense_Mutation_p.E219*|GALC_uc010tvz.1_Nonsense_Mutation_p.E186*|GALC_uc001xvu.1_Nonsense_Mutation_p.E242*	p.E242*	NM_000153	NP_000144	P54803	GALC_HUMAN			7	1123	-			242					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Nonsense_Mutation	SNP	ENST00000261304.2	37	c.724G>T	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229676	0.39399	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568;ENST00000445021	.	.	.	5.21	3.37	0.38596	.	0.389935	0.30383	N	0.009758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.5472	9.3859	0.38342	0.0:0.7735:0.146:0.0805	.	.	.	.	X	242;186;216;31;219;242	.	ENSP00000261304:E242X	E	-	1	0	GALC	87512483	0.995000	0.38212	0.023000	0.16930	0.010000	0.07245	3.412000	0.52679	0.557000	0.29117	0.591000	0.81541	GAA		0.398	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			5	46	1	0	0.00116845	0.001168	0.00137772	5	46				
ZC3H14	79882	broad.mit.edu	37	14	89068290	89068290	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:89068290G>C	ENST00000251038.5	+	11	1602	c.1377G>C	c.(1375-1377)atG>atC	p.M459I	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M459I|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.M434I|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M161I|ZC3H14_ENST00000556945.1_Intron	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	459						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						TGGAATCCATGGTCCATGCAG	0.388																																							uc001xww.2		NA																	0				ovary(2)|skin(1)	3						c.(1375-1377)ATG>ATC		zinc finger CCCH-type containing 14 isoform 1							112.0	107.0	109.0					14																	89068290		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89068290G>C	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.1377G>C	14.37:g.89068290G>C	ENSP00000251038:p.Met459Ile					ZC3H14_uc010twd.1_Missense_Mutation_p.M459I|ZC3H14_uc010twe.1_Missense_Mutation_p.M459I|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Missense_Mutation_p.M4I|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	p.M459I	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			11	1602	+			459					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1377G>C	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151659|3.151659	0.57151|0.57151	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900;ENST00000557737|ENST00000556000	.|.	.|.	.|.	6.1|6.1	6.1|6.1	0.99115|0.99115	.|.	0.355668|.	0.36268|.	N|.	0.002689|.	T|T	0.74222|0.74222	0.3688|0.3688	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25904|.	0.137;0.004;0.004|.	B;B;B|.	0.24269|.	0.052;0.005;0.005|.	T|T	0.68618|0.68618	-0.5361|-0.5361	9|5	0.15066|.	T|.	0.55|.	-13.6098|-13.6098	20.7146|20.7146	0.99709|0.99709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	459;459;459|.	G3V5R4;Q6PJT7-2;Q6PJT7|.	.;.;ZC3HE_HUMAN|.	I|S	459;434;459;459;434;161;136|375	.|.	ENSP00000251038:M459I|.	M|W	+|+	3|2	0|0	ZC3H14|ZC3H14	88138043|88138043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.008000|5.008000	0.63991|0.63991	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		9	66	0	0	0	0.004482	0	9	66				
TTC8	123016	broad.mit.edu	37	14	89338020	89338020	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:89338020G>A	ENST00000345383.5	+	11	1231	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	TTC8_ENST00000358622.5_Missense_Mutation_p.E195K|TTC8_ENST00000338104.6_Missense_Mutation_p.E409K|TTC8_ENST00000346301.4_Missense_Mutation_p.E353K|TTC8_ENST00000536576.1_Missense_Mutation_p.E154K|TTC8_ENST00000380656.2_Missense_Mutation_p.E393K|TTC8_ENST00000354441.6_Missense_Mutation_p.E128K	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	419					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCTGAAAATGAAGAAGAGGC	0.433																																							uc010ath.2		NA																	0					0						c.(1225-1227)GAA>AAA		tetratricopeptide repeat domain 8 isoform B							142.0	131.0	135.0					14																	89338020		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338020G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1147G>A	14.37:g.89338020G>A	ENSP00000339486:p.Glu383Lys					TTC8_uc001xxl.2_Missense_Mutation_p.E154K|TTC8_uc010ati.2_Missense_Mutation_p.E195K|TTC8_uc001xxm.2_Missense_Mutation_p.E353K|TTC8_uc010atj.2_Missense_Mutation_p.E128K|TTC8_uc001xxi.2_Missense_Mutation_p.E393K|TTC8_uc001xxj.2_Missense_Mutation_p.E383K|TTC8_uc001xxk.2_Missense_Mutation_p.E353K	p.E409K	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			12	1359	+			419			TPR 6.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1225G>A	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.119751|4.119751	0.77323|0.77323	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.7;0.7|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.046163|.	0.85682|.	D|.	0.000000|.	T|T	0.48040|0.48040	0.1478|0.1478	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999988|0.999988	P;P;P;P;P|.	0.47762|.	0.9;0.607;0.896;0.696;0.696|.	B;P;P;B;B|.	0.46510|.	0.364;0.497;0.519;0.363;0.363|.	T|T	0.42982|0.42982	-0.9419|-0.9419	10|5	0.72032|.	D|.	0.01|.	-25.2602|-25.2602	19.8984|19.8984	0.96975|0.96975	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	128;154;419;363;393|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	K|I	383;154;353;409;128;393;195|342	ENSP00000339486:E383K;ENSP00000445067:E154K;ENSP00000298324:E353K;ENSP00000337653:E409K;ENSP00000346427:E128K;ENSP00000370031:E393K;ENSP00000351439:E195K|.	ENSP00000337653:E409K|.	E|M	+|+	1|3	0|0	TTC8|TTC8	88407773|88407773	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	7.497000|7.497000	0.81536|0.81536	2.712000|2.712000	0.92718|0.92718	0.555000|0.555000	0.69702|0.69702	GAA|ATG		0.433	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		5	101	0	0	0	0.001168	0	5	101				
KCNK13	56659	broad.mit.edu	37	14	90650636	90650636	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:90650636C>T	ENST00000282146.4	+	2	957	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	172					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGGCCCTGCCCCAGGAGAGCC	0.612																																							uc001xye.1		NA																	0				skin(1)	1						c.(514-516)CCC>CCT		potassium channel, subfamily K, member 13							75.0	75.0	75.0					14																	90650636		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650636C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.516C>T	14.37:g.90650636C>T							p.P172P	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	958	+		all_cancers(154;0.186)	172			Cytoplasmic (Potential).		B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.516C>T	CCDS9889.1																																																																																				0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		21	70	0	0	0	0.001882	0	21	70				
RPS6KA5	9252	broad.mit.edu	37	14	91338578	91338578	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:91338578C>A	ENST00000261991.3	-	17	2422	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S671I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	750					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GGTACTGGTGCTAGTCTTTTT	0.488																																							uc001xys.2		NA																	0				ovary(1)	1						c.(2248-2250)AGC>ATC		ribosomal protein S6 kinase, polypeptide 5							127.0	111.0	116.0					14																	91338578		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338578C>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2249G>T	14.37:g.91338578C>A	ENSP00000261991:p.Ser750Ile					RPS6KA5_uc010twi.1_Missense_Mutation_p.S671I	p.S750I	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2464	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	750					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2249G>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629513	0.87660	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.68903	-0.36;-0.35	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.039240	0.85682	D	0.000000	T	0.68613	0.3020	M	0.61703	1.905	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.74247	-0.3727	10	0.72032	D	0.01	.	19.2225	0.93803	0.0:1.0:0.0:0.0	.	750	O75582	KS6A5_HUMAN	I	750;671	ENSP00000261991:S750I;ENSP00000442803:S671I	ENSP00000261991:S750I	S	-	2	0	RPS6KA5	90408331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.776000	0.85560	2.611000	0.88343	0.655000	0.94253	AGC		0.488	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		9	49	1	0	9.70103e-10	0.008291	1.53276e-09	9	49				
MOAP1	64112	broad.mit.edu	37	14	93650126	93650126	+	Missense_Mutation	SNP	C	C	A	rs148364724		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:93650126C>A	ENST00000556883.1	-	2	946	c.462G>T	c.(460-462)caG>caT	p.Q154H	TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.Q154H|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	154					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		gcagggcaggctgaagagcct	0.512																																							uc001ybj.2		NA																	0				skin(2)|ovary(1)	3						c.(460-462)CAG>CAT		modulator of apoptosis 1							89.0	93.0	92.0					14																	93650126		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650126C>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.462G>T	14.37:g.93650126C>A	ENSP00000451594:p.Gln154His					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.Q154H	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	832	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	154					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.462G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718428	0.48622	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.13901	2.55;2.55	3.47	3.47	0.39725	.	.	.	.	.	T	0.20780	0.0500	L	0.52011	1.625	0.27320	N	0.957075	P	0.40794	0.729	P	0.48400	0.576	T	0.03148	-1.1067	9	0.49607	T	0.09	-0.1114	10.8274	0.46640	0.0:1.0:0.0:0.0	.	154	Q96BY2	MOAP1_HUMAN	H	154	ENSP00000298894:Q154H;ENSP00000451594:Q154H	ENSP00000298894:Q154H	Q	-	3	2	MOAP1	92719879	0.982000	0.34865	1.000000	0.80357	0.569000	0.35902	0.619000	0.24388	2.232000	0.73038	0.555000	0.69702	CAG		0.512	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			27	87	1	0	3.67414e-24	0.002445	7.19296e-24	27	87				
SERPINA10	51156	broad.mit.edu	37	14	94756466	94756466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:94756466G>T	ENST00000393096.1	-	2	930	c.465C>A	c.(463-465)aaC>aaA	p.N155K	SERPINA10_ENST00000261994.4_Missense_Mutation_p.N155K|SERPINA10_ENST00000554723.1_Missense_Mutation_p.N195K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.N155K	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	155					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGTTCCAGGTTGCGGGAGA	0.522																																							uc001yct.2		NA																	0				ovary(2)|skin(1)	3						c.(463-465)AAC>AAA		serine (or cysteine) proteinase inhibitor, clade							56.0	64.0	61.0					14																	94756466		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756466G>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.465C>A	14.37:g.94756466G>T	ENSP00000376809:p.Asn155Lys					SERPINA10_uc001ycu.3_Missense_Mutation_p.N155K	p.N155K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	931	-		all_cancers(154;0.105)	155					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.465C>A	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102418	0.20632	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.82	1.93	0.25924	Serpin domain (3);	0.158445	0.42172	D	0.000750	D	0.85754	0.5770	L	0.52905	1.665	0.09310	N	1	D	0.59357	0.985	P	0.53313	0.723	T	0.77242	-0.2660	10	0.72032	D	0.01	.	4.2433	0.10660	0.3943:0.165:0.4407:0.0	.	155	Q9UK55	ZPI_HUMAN	K	195;155;155;155	ENSP00000450896:N195K;ENSP00000376809:N155K;ENSP00000261994:N155K;ENSP00000450971:N155K	ENSP00000261994:N155K	N	-	3	2	SERPINA10	93826219	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	0.241000	0.18065	0.093000	0.17368	-0.657000	0.03884	AAC		0.522	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		8	70	1	0	0.000442599	0.006214	0.000529778	8	70				
SYNE3	161176	broad.mit.edu	37	14	95932342	95932342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:95932342C>A	ENST00000334258.5	-	3	567	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	SYNE3_ENST00000557275.1_Missense_Mutation_p.G185W|SYNE3_ENST00000553340.1_Missense_Mutation_p.G185W	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	185					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTGGGGTCCCCGATCCTGTTG	0.632																																							uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(553-555)GGG>TGG		nesprin-3							115.0	94.0	101.0					14																	95932342		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932342C>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.553G>T	14.37:g.95932342C>A	ENSP00000334308:p.Gly185Trp					C14orf49_uc010avi.2_Missense_Mutation_p.G185W|C14orf49_uc001yej.1_Missense_Mutation_p.G185W	p.G185W	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	3	568	-		all_cancers(154;0.0937)	185			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.553G>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.067559	0.55539	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.38240	1.15;1.15;1.15	4.12	4.12	0.48240	.	0.000000	0.38720	N	0.001594	T	0.57917	0.2086	M	0.66939	2.045	0.44439	D	0.997361	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.71870	0.975;0.975;0.944	T	0.64546	-0.6382	10	0.72032	D	0.01	-32.7068	16.4126	0.83723	0.0:1.0:0.0:0.0	.	185;185;185	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	W	185	ENSP00000334308:G185W;ENSP00000450562:G185W;ENSP00000450774:G185W	ENSP00000334308:G185W	G	-	1	0	C14orf49	95002095	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.992000	0.49417	1.828000	0.53243	0.298000	0.19748	GGG		0.632	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		13	39	1	0	4.3838e-07	0.001855	6.19079e-07	13	39				
DIO3	1735	broad.mit.edu	37	14	102028467	102028467	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:102028467T>A	ENST00000510508.4	+	1	780	c.634T>A	c.(634-636)Tct>Act	p.S212T	DIO3_ENST00000359323.3_Missense_Mutation_p.S186T|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	212					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CACCACGGACTCTCCCTACAT	0.647																																							uc010txq.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(556-558)TCT>ACT		deiodinase, iodothyronine, type III							74.0	84.0	80.0					14																	102028467		2124	4236	6360	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028467T>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.634T>A	14.37:g.102028467T>A	ENSP00000427336:p.Ser212Thr					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.S186T	NM_001362	NP_001353	P55073	IOD3_HUMAN			2	780	+		all_neural(303;0.185)	186			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.556T>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744481	0.49151	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.31510	1.49;1.49	3.65	1.09	0.20402	.	0.093612	0.39407	U	0.001371	T	0.17534	0.0421	N	0.08118	0	0.80722	D	1	P	0.45283	0.855	P	0.50192	0.634	T	0.07233	-1.0783	10	0.22109	T	0.4	.	4.7371	0.12993	0.1485:0.0:0.4197:0.4318	.	186	P55073	IOD3_HUMAN	T	186;212	ENSP00000352273:S186T;ENSP00000427336:S212T	ENSP00000352273:S212T	S	+	1	0	DIO3;AL049836.1	101098220	1.000000	0.71417	0.803000	0.32268	0.632000	0.37999	5.770000	0.68873	0.458000	0.26988	0.379000	0.24179	TCT		0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		19	59	0	0	0	0.001216	0	19	59				
AHNAK2	113146	broad.mit.edu	37	14	105409642	105409642	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105409642C>T	ENST00000333244.5	-	7	12265	c.12146G>A	c.(12145-12147)gGg>gAg	p.G4049E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4049						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)			GGGCAGGTGCCCTTTGAGGCT	0.627																																							uc010axc.1		NA																	0				ovary(1)	1						c.(12145-12147)GGG>GAG		AHNAK nucleoprotein 2							127.0	132.0	130.0					14																	105409642		1859	4104	5963	SO:0001583	missense	113146					nucleus		g.chr14:105409642C>T	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.12146G>A	14.37:g.105409642C>T	ENSP00000353114:p.Gly4049Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.G3949E	p.G4049E	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	12266	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4049					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12146G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	13.98	2.397966	0.42512	.	.	ENSG00000185567	ENST00000333244	T	0.03124	4.04	4.24	1.17	0.20885	.	.	.	.	.	T	0.15522	0.0374	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34279	-0.9835	9	0.02654	T	1	.	7.7251	0.28755	0.2999:0.4081:0.292:0.0	.	4049	Q8IVF2	AHNK2_HUMAN	E	4049	ENSP00000353114:G4049E	ENSP00000353114:G4049E	G	-	2	0	AHNAK2	104480687	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	0.364000	0.20325	-0.052000	0.13311	0.556000	0.70494	GGG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	197	0	0	0	0.000602	0	5	197				
MTA1	9112	broad.mit.edu	37	14	105911775	105911775	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105911775G>T	ENST00000331320.7	+	3	331	c.117G>T	c.(115-117)gaG>gaT	p.E39D	MTA1_ENST00000405646.1_Missense_Mutation_p.E39D|MTA1_ENST00000406191.1_Missense_Mutation_p.E39D	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	39	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGAACGTGGAGGCCAAAGTGG	0.657																																							uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(115-117)GAG>GAT		metastasis associated protein							129.0	93.0	105.0					14																	105911775		2203	4300	6503	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105911775G>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.117G>T	14.37:g.105911775G>T	ENSP00000333633:p.Glu39Asp					MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Translation_Start_Site|MTA1_uc001yra.1_Translation_Start_Site	p.E39D	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	3	304	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	39			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.117G>T	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357870	0.82243	.	.	ENSG00000182979	ENST00000331320;ENST00000406191;ENST00000405646	T;T;T	0.40225	1.08;1.04;1.22	4.21	3.3	0.37823	Bromo adjacent homology (BAH) domain (3);	0.054190	0.64402	D	0.000001	T	0.52256	0.1723	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54503	-0.8284	10	0.87932	D	0	-31.5884	5.1704	0.15107	0.2975:0.0:0.7025:0.0	.	39	Q13330	MTA1_HUMAN	D	39	ENSP00000333633:E39D;ENSP00000385702:E39D;ENSP00000384180:E39D	ENSP00000333633:E39D	E	+	3	2	MTA1	104982820	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.395000	0.44459	2.063000	0.61619	0.484000	0.47621	GAG		0.657	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			7	48	1	0	0.00198382	0.001984	0.00231877	7	48				
MTA1	9112	broad.mit.edu	37	14	105924709	105924709	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105924709G>T	ENST00000331320.7	+	8	867	c.653G>T	c.(652-654)cGc>cTc	p.R218L	MTA1_ENST00000405646.1_Splice_Site_p.R201L|MTA1_ENST00000406191.1_Splice_Site_p.R218L	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	218	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTGGTGGCCCGGTGAGTCCTG	0.632																																							uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(652-654)CGC>CTC		metastasis associated protein							90.0	63.0	72.0					14																	105924709		2202	4299	6501	SO:0001630	splice_region_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105924709G>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.653+1G>T	14.37:g.105924709G>T						MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.R132L|MTA1_uc001yra.1_Missense_Mutation_p.R132L|MTA1_uc001yrb.2_5'UTR	p.R218L	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	8	840	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	218			ELM2.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.653G>T	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127727	0.94473	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644;ENST00000434050	T;T;T;T;T	0.57907	1.41;1.41;1.41;1.41;0.37	4.65	4.65	0.58169	ELM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81801	-0.0766	10	0.87932	D	0	-19.4979	16.0701	0.80919	0.0:0.0:1.0:0.0	.	218	Q13330	MTA1_HUMAN	L	127;218;218;201;132;10	ENSP00000333633:R218L;ENSP00000385702:R218L;ENSP00000384180:R201L;ENSP00000448146:R132L;ENSP00000394106:R10L	ENSP00000333633:R218L	R	+	2	0	MTA1	104995754	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.765000	0.98953	2.130000	0.65690	0.462000	0.41574	CGC		0.632	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Missense_Mutation	6	23	1	0	0.00198382	0.001984	0.00231877	6	23				
HERC2P3	283755	broad.mit.edu	37	15	20658886	20658886	+	RNA	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:20658886C>T	ENST00000428453.1	-	0	1980							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATATCGATTCCCTCAGGAATA	0.363																																							uc001ytg.2		NA																	0					NA						c.(1291-1293)GGA>AGA		RecName: Full=Putative HERC2-like protein 3;							53.0	59.0	57.0					15																	20658886		2149	4233	6382			0							g.chr15:20658886C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20658886C>T						uc010tyx.1_Intron|uc001yth.3_Missense_Mutation_p.G431R|uc010tyy.1_Missense_Mutation_p.G431R|uc010tyz.1_Missense_Mutation_p.G279R	p.G431R							14	2000	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.1291G>A																																																																																					0.363	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		7	106	0	0	0	0.001984	0	7	106				
RPS8P10	388076	broad.mit.edu	37	15	22440467	22440467	+	IGR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:22440467G>T								RP11-2F9.4 (4290 upstream) : IGHV1OR15-1 (7914 downstream)																							AGTCAGCTTGGCTCCCTTCTT	0.453																																							uc001yug.2		NA																	0					NA						c.(379-381)GCC>GAC		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440467G>T																													15.37:g.22440467G>T							p.A127D							1	399	-									Missense_Mutation	SNP		37	c.380C>A																																																																																				0	0.453									8	29	1	0	0.00621372	0.006214	0.00712032	8	29				
RPS8P10	388076	broad.mit.edu	37	15	22440669	22440669	+	IGR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:22440669G>T								RP11-2F9.4 (4492 upstream) : IGHV1OR15-1 (7712 downstream)																							CTCACGTCCAGCCTCAGGGCA	0.527																																							uc001yug.2		NA																	0					NA						c.(178-180)CTG>ATG		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440669G>T																													15.37:g.22440669G>T							p.L60M							1	197	-									Missense_Mutation	SNP		37	c.178C>A																																																																																				0	0.527									4	50	1	0	0.00024832	0.000248	0.000301804	4	50				
LOC100288637	100288637	broad.mit.edu	37	15	30938316	30938316	+	lincRNA	SNP	G	G	A	rs112615235		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:30938316G>A	ENST00000602684.1	+	0	0																											TTCCTTGGCAGTGGATAAGTT	0.393																																							uc010azv.1		NA																	0					0						c.e11-1		Homo sapiens cDNA, FLJ17072.																																						89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30938316G>A																													15.37:g.30938316G>A						ARHGAP11B_uc001zeu.2_Splice_Site				Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	11		+		all_lung(180;2.71e-09)|Breast(32;0.00116)							Splice_Site	SNP	ENST00000602684.1	37	c.1127_splice																																																																																					0.393	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1			5	26	0	0	0	0.000602	0	5	26				
PLA2G4E	123745	broad.mit.edu	37	15	42298308	42298308	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:42298308C>A	ENST00000399518.3	-	4	891	c.405G>T	c.(403-405)gaG>gaT	p.E135D	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E106D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	117	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGACACTCAACTCTAGCACGT	0.512																																							uc001zow.1		NA																	0					0						c.(316-318)GAG>GAT		phospholipase A2, group 4E							126.0	130.0	129.0					15																	42298308		2105	4232	6337	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298308C>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.405G>T	15.37:g.42298308C>A	ENSP00000382434:p.Glu135Asp						p.E106D	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	3	318	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	117			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.318G>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090998	0.76756	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.70986	-0.53;-0.53	5.66	4.56	0.56223	.	0.091684	0.41712	U	0.000826	T	0.79173	0.4401	M	0.78223	2.4	0.34439	D	0.699428	D	0.54207	0.965	P	0.57371	0.819	D	0.85161	0.0992	10	0.59425	D	0.04	-11.3789	9.9095	0.41397	0.0:0.7678:0.1456:0.0867	.	106	C9JK77	.	D	135;106	ENSP00000382434:E135D;ENSP00000413897:E106D	ENSP00000382434:E135D	E	-	3	2	PLA2G4E	40085600	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.615000	0.36922	2.665000	0.90641	0.563000	0.77884	GAG		0.512	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		10	28	1	0	4.68919e-08	0.008291	6.92803e-08	10	28				
GANC	2595	broad.mit.edu	37	15	42600445	42600445	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:42600445C>G	ENST00000318010.8	+	8	891	c.651C>G	c.(649-651)ttC>ttG	p.F217L	GANC_ENST00000566442.1_Missense_Mutation_p.F217L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	217					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GTTTGGATTTCTCCTTGCATG	0.393																																							uc001zpi.2		NA																	0				central_nervous_system(2)	2						c.(649-651)TTC>TTG		glucosidase, alpha; neutral C							230.0	238.0	235.0					15																	42600445		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42600445C>G	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.651C>G	15.37:g.42600445C>G	ENSP00000326227:p.Phe217Leu					GANC_uc001zph.2_Missense_Mutation_p.F217L|GANC_uc001zpj.1_5'UTR	p.F217L	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	8	965	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	217					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.651C>G	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471408	0.43942	.	.	ENSG00000214013	ENST00000318010	D	0.84660	-1.88	5.64	4.73	0.59995	Glycoside hydrolase-type carbohydrate-binding (1);	0.115268	0.64402	D	0.000006	T	0.81837	0.4907	L	0.60012	1.86	0.49213	D	0.999765	B;B	0.15473	0.013;0.012	B;B	0.23574	0.047;0.038	T	0.78086	-0.2341	10	0.52906	T	0.07	-14.2405	8.9941	0.36041	0.0:0.7796:0.0:0.2204	.	217;217	Q8TET4;Q2M2A3	GANC_HUMAN;.	L	217	ENSP00000326227:F217L	ENSP00000326227:F217L	F	+	3	2	GANC	40387737	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.163000	0.31798	1.388000	0.46506	-0.148000	0.13756	TTC		0.393	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		27	112	0	0	0	0.001786	0	27	112				
TP53BP1	7158	broad.mit.edu	37	15	43724817	43724817	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:43724817C>A	ENST00000263801.3	-	17	3487	c.3235G>T	c.(3235-3237)Ggt>Tgt	p.G1079C	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1084C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1084C|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1084C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1079					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTATGGTCACCCTCCAATTTT	0.458								Other conserved DNA damage response genes																															uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(3235-3237)GGT>TGT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							133.0	115.0	121.0					15																	43724817		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43724817C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3235G>T	15.37:g.43724817C>A	ENSP00000263801:p.Gly1079Cys					TP53BP1_uc010udp.1_Missense_Mutation_p.G1079C|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1084C|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1084C|TP53BP1_uc010udq.1_Missense_Mutation_p.G1084C	p.G1079C	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	17	3383	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1079					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3235G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345984	0.24426	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.44	2.54	0.30619	.	0.737789	0.12866	N	0.432714	T	0.08492	0.0211	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.48503	0.726;0.856;0.911;0.911	B;B;P;P	0.46479	0.237;0.319;0.518;0.518	T	0.20907	-1.0261	10	0.56958	D	0.05	1.3829	7.9427	0.29967	0.0:0.7107:0.1405:0.1488	.	1084;1079;1084;1084	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	C	1079;1084;1084;1084	ENSP00000263801:G1079C;ENSP00000371475:G1084C;ENSP00000371470:G1084C;ENSP00000393497:G1084C	ENSP00000263801:G1079C	G	-	1	0	TP53BP1	41512109	0.000000	0.05858	0.014000	0.15608	0.347000	0.29111	0.350000	0.20079	0.358000	0.24211	-0.137000	0.14449	GGT		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			8	25	1	0	0.000274275	0.004482	0.000331549	8	25				
B2M	567	broad.mit.edu	37	15	45007761	45007761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:45007761G>T	ENST00000558401.1	+	2	278	c.208G>T	c.(208-210)Gag>Tag	p.E70*	B2M_ENST00000544417.1_Nonsense_Mutation_p.E70*|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Nonsense_Mutation_p.E70*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	70	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGTGGAGCATTCAGA	0.413																																							uc001zuc.2		NA																	1	Deletion - In frame(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)|skin(1)	3						c.(208-210)GAG>TAG		beta-2-microglobulin precursor							205.0	209.0	208.0					15																	45007761		2198	4298	6496	SO:0001587	stop_gained	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007761G>T	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.208G>T	15.37:g.45007761G>T	ENSP00000452780:p.Glu70*					B2M_uc010uek.1_Nonsense_Mutation_p.E70*|B2M_uc010bdx.1_Intron	p.E70*	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	268	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	70			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	ENST00000558401.1	37	c.208G>T	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860621	0.71834	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	.	.	.	6.03	5.1	0.69264	.	0.927272	0.09321	N	0.818214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	13.1943	0.59730	0.0:0.1595:0.8405:0.0	.	.	.	.	X	70	.	ENSP00000340858:E70X	E	+	1	0	B2M	42795053	0.896000	0.30565	0.032000	0.17829	0.104000	0.19210	2.296000	0.43584	1.518000	0.48934	0.655000	0.94253	GAG		0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		9	46	1	0	0.00448238	0.004482	0.00518058	9	46				
CEP152	22995	broad.mit.edu	37	15	49044594	49044594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:49044594C>A	ENST00000380950.2	-	21	3605	c.3418G>T	c.(3418-3420)Gga>Tga	p.G1140*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.G1047*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.G1140*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1140					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGGTGTCCAGCAGCAGGT	0.483																																							uc001zwy.2		NA																	0				lung(2)	2						c.(3418-3420)GGA>TGA		centrosomal protein 152kDa							110.0	112.0	112.0					15																	49044594		1912	4112	6024	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49044594C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3418G>T	15.37:g.49044594C>A	ENSP00000370337:p.Gly1140*					CEP152_uc001zwz.2_Nonsense_Mutation_p.G1140*|CEP152_uc001zxa.1_Nonsense_Mutation_p.G1047*	p.G1140*	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	21	3452	-		all_lung(180;0.0428)	1140					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.3418G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	38	6.967876	0.97971	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	4.79	3.88	0.44766	.	0.458483	0.23093	N	0.052009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.058	9.1033	0.36683	0.0:0.9034:0.0:0.0966	.	.	.	.	X	1140;1047;1140	.	ENSP00000321000:G1047X	G	-	1	0	CEP152	46831886	0.023000	0.18921	0.356000	0.25785	0.076000	0.17211	0.561000	0.23515	1.635000	0.50512	0.655000	0.94253	GGA		0.483	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		25	111	1	0	3.28513e-13	0.003954	5.70016e-13	25	111				
FAM214A	56204	broad.mit.edu	37	15	52877008	52877008	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:52877008C>G	ENST00000261844.7	-	12	3163	c.3011G>C	c.(3010-3012)aGa>aCa	p.R1004T	RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.R1011T|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1004																	ATTAACACTTCTCTTCACTTC	0.343																																							uc002acg.3		NA																	0					0						c.(3010-3012)AGA>ACA		hypothetical protein LOC56204							155.0	154.0	154.0					15																	52877008		1863	4098	5961	SO:0001583	missense	56204							g.chr15:52877008C>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3011G>C	15.37:g.52877008C>G	ENSP00000261844:p.Arg1004Thr					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.R916T|KIAA1370_uc002acf.3_Missense_Mutation_p.R34T|KIAA1370_uc010ugf.1_Missense_Mutation_p.R1011T	p.R1004T	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	12	3164	-			1004					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.3011G>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	8.500	0.864003	0.17250	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.30714	1.52;1.52	5.3	3.33	0.38152	.	0.324592	0.35970	N	0.002873	T	0.22360	0.0539	N	0.14661	0.345	0.32489	N	0.54044	B;B	0.20550	0.046;0.027	B;B	0.28232	0.087;0.04	T	0.15694	-1.0428	10	0.48119	T	0.1	.	15.77	0.78162	0.0:0.7565:0.2435:0.0	.	1011;1004	F5H8G0;Q32MH5	.;K1370_HUMAN	T	1004;1004;1011	ENSP00000261844:R1004T;ENSP00000443598:R1011T	ENSP00000261844:R1004T	R	-	2	0	KIAA1370	50664300	1.000000	0.71417	0.880000	0.34516	0.917000	0.54804	2.893000	0.48633	0.664000	0.31047	0.467000	0.42956	AGA		0.343	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		6	28	0	0	0	0.00308	0	6	28				
UNC13C	440279	broad.mit.edu	37	15	54685257	54685257	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:54685257G>T	ENST00000260323.11	+	17	4725	c.4725G>T	c.(4723-4725)caG>caT	p.Q1575H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1573H|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q1575H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1575					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)		GTAAGAAACAGGATATTCCTC	0.373																																							uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(4723-4725)CAG>CAT		unc-13 homolog C							115.0	111.0	112.0					15																	54685257		1865	4098	5963	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54685257G>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.4725G>T	15.37:g.54685257G>T	ENSP00000260323:p.Gln1575His					UNC13C_uc002acl.2_Missense_Mutation_p.Q405H	p.Q1575H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	16	4725	+			1575					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4725G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385481	0.61956	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80033	-1.33;-1.33;-1.33	5.45	3.49	0.39957	Calcium-dependent secretion activator (1);	0.060406	0.64402	D	0.000002	D	0.82407	0.5030	M	0.61703	1.905	0.41142	D	0.985965	P;P	0.50272	0.933;0.896	P;P	0.57548	0.77;0.823	T	0.80276	-0.1450	10	0.62326	D	0.03	.	3.7987	0.08750	0.2661:0.0:0.5608:0.1731	.	1575;1575	F5H090;Q8NB66	.;UN13C_HUMAN	H	1575;1575;1573	ENSP00000260323:Q1575H;ENSP00000438156:Q1575H;ENSP00000442569:Q1573H	ENSP00000260323:Q1575H	Q	+	3	2	UNC13C	52472549	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.612000	0.30071	0.650000	0.86243	CAG		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		16	75	1	0	5.03518e-11	0.007413	8.26681e-11	16	75				
HERC1	8925	broad.mit.edu	37	15	63955365	63955365	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:63955365T>A	ENST00000443617.2	-	44	8806	c.8719A>T	c.(8719-8721)Agt>Tgt	p.S2907C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2907					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTCCGACTTTGATTCCTG	0.408																																							uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(8719-8721)AGT>TGT		hect domain and RCC1-like domain 1							155.0	153.0	154.0					15																	63955365		1870	4098	5968	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63955365T>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8719A>T	15.37:g.63955365T>A	ENSP00000390158:p.Ser2907Cys						p.S2907C	NM_003922	NP_003913	Q15751	HERC1_HUMAN			44	8867	-			2907					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8719A>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.513682	0.44763	.	.	ENSG00000103657	ENST00000443617	T	0.25912	1.77	5.77	5.77	0.91146	.	0.218239	0.40222	U	0.001141	T	0.19967	0.0480	N	0.19112	0.55	0.39162	D	0.962427	P	0.37864	0.61	B	0.40901	0.343	T	0.08868	-1.0701	10	0.62326	D	0.03	.	10.4883	0.44735	0.0:0.0723:0.0:0.9277	.	2907	Q15751	HERC1_HUMAN	C	2907	ENSP00000390158:S2907C	ENSP00000390158:S2907C	S	-	1	0	HERC1	61742418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.363000	0.44178	2.218000	0.71995	0.449000	0.29647	AGT		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		57	140	0	0	0	0.00361	0	57	140				
SNX1	6642	broad.mit.edu	37	15	64426924	64426924	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:64426924A>T	ENST00000559844.1	+	12	1297	c.1283A>T	c.(1282-1284)cAg>cTg	p.Q428L	SNX1_ENST00000261889.5_Missense_Mutation_p.Q428L|SNX1_ENST00000561026.1_Missense_Mutation_p.Q363L|SNX1_ENST00000560829.1_Missense_Mutation_p.Q210L|SNX1_ENST00000353874.4_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	428	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACACTGCAGAAGAAGCGG	0.627																																							uc002amv.2		NA																	0					0						c.(1282-1284)CAG>CTG		sorting nexin 1 isoform a							31.0	32.0	32.0					15																	64426924		2200	4297	6497	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64426924A>T	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1283A>T	15.37:g.64426924A>T	ENSP00000453785:p.Gln428Leu					SNX1_uc010bgv.2_Missense_Mutation_p.Q142L|SNX1_uc010uio.1_Missense_Mutation_p.Q428L|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Missense_Mutation_p.Q363L|SNX1_uc002amy.2_Missense_Mutation_p.Q357L|SNX1_uc010bgw.2_Missense_Mutation_p.Q330L	p.Q428L	NM_003099	NP_003090	Q13596	SNX1_HUMAN			12	1319	+			428			BAR.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.1283A>T	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747144	0.69418	.	.	ENSG00000028528	ENST00000380285;ENST00000261889	.	.	.	5.92	5.92	0.95590	Vps5 C-terminal (1);	0.049559	0.85682	D	0.000000	T	0.56877	0.2015	L	0.42744	1.35	0.80722	D	1	B;B;B;B;B;B	0.17852	0.024;0.003;0.024;0.024;0.003;0.024	B;B;B;B;B;B	0.26969	0.05;0.02;0.075;0.05;0.02;0.05	T	0.51553	-0.8691	9	0.25106	T	0.35	-0.1966	15.5459	0.76101	1.0:0.0:0.0:0.0	.	428;338;428;428;363;428	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;Q13596	.;.;.;.;.;SNX1_HUMAN	L	428;363	.	ENSP00000261889:Q363L	Q	+	2	0	SNX1	62213977	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.313000	0.96297	2.263000	0.75096	0.533000	0.62120	CAG		0.627	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		9	32	0	0	0	0.004482	0	9	32				
RBPMS2	348093	broad.mit.edu	37	15	65041311	65041311	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:65041311C>A	ENST00000300069.4	-	5	573	c.306G>T	c.(304-306)agG>agT	p.R102S	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	102	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CAAACTCTAGCCTCAGAGTCT	0.517																																							uc002anq.2		NA																	0					0						c.(304-306)AGG>AGT		RNA binding protein with multiple splicing 2							182.0	160.0	168.0					15																	65041311		2202	4299	6501	SO:0001583	missense	348093						nucleic acid binding|nucleotide binding	g.chr15:65041311C>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.306G>T	15.37:g.65041311C>A	ENSP00000300069:p.Arg102Ser						p.R102S	NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN			5	558	-			102			RRM.		A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	c.306G>T	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960410	0.74016	.	.	ENSG00000166831	ENST00000300069	T	0.38401	1.14	5.08	4.16	0.48862	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.79343	2.45	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.63033	-0.6727	10	0.62326	D	0.03	0.0039	12.5244	0.56077	0.0:0.9181:0.0:0.0819	.	102	Q6ZRY4	RBPS2_HUMAN	S	102	ENSP00000300069:R102S	ENSP00000300069:R102S	R	-	3	2	RBPMS2	62828364	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.067000	0.30616	1.267000	0.44247	0.563000	0.77884	AGG		0.517	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1			16	85	1	0	3.52763e-06	0.00499	4.77101e-06	16	85				
DPP8	54878	broad.mit.edu	37	15	65744362	65744362	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:65744362C>A	ENST00000341861.5	-	18	3978	c.2398G>T	c.(2398-2400)Gac>Tac	p.D800Y	DPP8_ENST00000300141.6_Missense_Mutation_p.D784Y|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000321118.7_Missense_Mutation_p.D751Y|DPP8_ENST00000339244.5_Missense_Mutation_p.D627Y|DPP8_ENST00000559233.1_Missense_Mutation_p.D800Y|DPP8_ENST00000358939.4_Missense_Mutation_p.D684Y|DPP8_ENST00000321147.6_Missense_Mutation_p.D749Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	800				PDQNE -> LTRMN (in Ref. 6; AAQ13623). {ECO:0000305}.	immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATTCTGGTCAGGGTGACCC	0.428																																							uc002aov.2		NA																	0				ovary(1)	1						c.(2398-2400)GAC>TAC		dipeptidyl peptidase 8 isoform 1							165.0	162.0	163.0					15																	65744362		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65744362C>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2398G>T	15.37:g.65744362C>A	ENSP00000339208:p.Asp800Tyr					DPP8_uc002aow.2_Missense_Mutation_p.D800Y|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.D784Y|DPP8_uc002aoy.2_Missense_Mutation_p.D749Y|DPP8_uc002aoz.2_Missense_Mutation_p.D684Y|DPP8_uc010bhj.2_Missense_Mutation_p.D800Y|DPP8_uc002apa.2_Missense_Mutation_p.D597Y|DPP8_uc010bhi.2_Missense_Mutation_p.D103Y|DPP8_uc010bhk.1_Missense_Mutation_p.D369Y	p.D800Y	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			18	3976	-			800	PDQNE -> LTRMN (in Ref. 6; AAQ13623).				Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.2398G>T	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910504	0.92107	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.42	5.42	0.78866	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.064498	0.64402	D	0.000006	T	0.46210	0.1381	M	0.62088	1.915	0.58432	D	0.999997	B;P;B;P;B;B	0.46142	0.153;0.831;0.01;0.873;0.059;0.033	B;P;B;P;B;B	0.49999	0.27;0.605;0.026;0.628;0.039;0.045	T	0.45234	-0.9275	10	0.72032	D	0.01	-15.9641	19.2151	0.93774	0.0:1.0:0.0:0.0	.	627;751;784;684;749;800	C9JSG1;Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;.;DPP8_HUMAN	Y	800;684;784;749;751;627	ENSP00000339208:D800Y;ENSP00000351817:D684Y;ENSP00000300141:D784Y;ENSP00000318111:D749Y;ENSP00000316373:D751Y;ENSP00000341230:D627Y	ENSP00000300141:D784Y	D	-	1	0	DPP8	63531415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.542000	0.85734	0.563000	0.77884	GAC		0.428	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		41	128	1	0	5.44703e-19	0.002222	1.0347e-18	41	128				
UACA	55075	broad.mit.edu	37	15	70991943	70991943	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:70991943C>A	ENST00000322954.6	-	2	320	c.135G>T	c.(133-135)ggG>ggT	p.G45G	UACA_ENST00000379983.2_Silent_p.G32G|UACA_ENST00000539319.1_Silent_p.G45G|UACA_ENST00000560441.1_Silent_p.G32G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	45					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCTACATCCCCCCTTTCTG	0.373																																							uc002asr.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(133-135)GGG>GGT		uveal autoantigen with coiled-coil domains and							181.0	153.0	163.0					15																	70991943		2199	4297	6496	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70991943C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.135G>T	15.37:g.70991943C>A						UACA_uc010uke.1_Silent_p.G45G|UACA_uc002asq.2_Silent_p.G32G|UACA_uc010bin.1_Silent_p.G31G	p.G45G	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			2	239	-			45			ANK 1.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.135G>T	CCDS10235.1																																																																																				0.373	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			14	82	1	0	1.49906e-05	0.00245	1.9584e-05	14	82				
LRRC49	54839	broad.mit.edu	37	15	71329670	71329670	+	Splice_Site	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:71329670A>G	ENST00000260382.5	+	15	2116	c.1856A>G	c.(1855-1857)gAg>gGg	p.E619G	LRRC49_ENST00000544974.2_Splice_Site_p.E609G|LRRC49_ENST00000443425.2_Splice_Site_p.E575G|LRRC49_ENST00000560158.2_Splice_Site_p.E307G|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Splice_Site_p.E325G|LRRC49_ENST00000560369.1_Splice_Site_p.E624G	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	619						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAAAAGCTAGAGGTAAAACTA	0.333																																							uc002asw.2		NA																	0				ovary(1)	1						c.(1855-1857)GAG>GGG		leucine rich repeat containing 49							59.0	68.0	65.0					15																	71329670		2199	4291	6490	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71329670A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1857+1A>G	15.37:g.71329670A>G						LRRC49_uc002asu.2_Missense_Mutation_p.E609G|LRRC49_uc002asx.2_Missense_Mutation_p.E575G|LRRC49_uc010ukf.1_Missense_Mutation_p.E624G|LRRC49_uc002asy.2_Missense_Mutation_p.E325G|LRRC49_uc002asz.2_Missense_Mutation_p.E591G	p.E619G	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			15	2103	+			619					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1856A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477490	0.63849	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.38077	1.16;1.17;1.16	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.988	D;D;D;D;P	0.71414	0.94;0.973;0.973;0.94;0.844	T	0.53940	-0.8367	10	0.41790	T	0.15	-18.2513	13.0014	0.58679	1.0:0.0:0.0:0.0	.	624;591;575;619;609	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	G	609;619;575;591	ENSP00000439600:E609G;ENSP00000260382:E619G;ENSP00000414065:E575G	ENSP00000260382:E619G	E	+	2	0	LRRC49	69116724	1.000000	0.71417	0.993000	0.49108	0.793000	0.44817	5.857000	0.69525	1.955000	0.56771	0.533000	0.62120	GAG		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Missense_Mutation	24	91	0	0	0	0.003954	0	24	91				
HEXA	3073	broad.mit.edu	37	15	72648940	72648940	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:72648940T>C	ENST00000268097.5	-	2	775	c.272A>G	c.(271-273)gAg>gGg	p.E91G	HEXA_ENST00000567159.1_Missense_Mutation_p.E91G|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.E102G	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	91					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CACATTCTTCTCCAGTGTATG	0.493																																							uc002aun.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(271-273)GAG>GGG		hexosaminidase A preproprotein							211.0	151.0	171.0					15																	72648940		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72648940T>C	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.272A>G	15.37:g.72648940T>C	ENSP00000268097:p.Glu91Gly					CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.E102G|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.E91G|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA	p.E91G	NM_000520	NP_000511	P06865	HEXA_HUMAN			2	479	-			91					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.272A>G	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.338152	0.24253	.	.	ENSG00000213614	ENST00000268097	D	0.88509	-2.39	5.15	-0.821	0.10822	Acetylhexosaminidase, subunit a/b (1);	0.765195	0.12199	N	0.490497	T	0.79423	0.4443	L	0.43923	1.385	0.09310	N	0.999997	B;B	0.16603	0.0;0.018	B;B	0.17433	0.008;0.018	T	0.61287	-0.7093	10	0.22109	T	0.4	-1.527	1.8899	0.03246	0.1309:0.2502:0.1189:0.5	.	102;91	B4DVA7;P06865	.;HEXA_HUMAN	G	91	ENSP00000268097:E91G	ENSP00000268097:E91G	E	-	2	0	HEXA	70435994	0.447000	0.25673	0.002000	0.10522	0.024000	0.10985	0.438000	0.21559	-0.001000	0.14495	-0.371000	0.07208	GAG		0.493	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		23	39	0	0	0	0.00333	0	23	39				
GOLGA6B	55889	broad.mit.edu	37	15	72954782	72954782	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:72954782T>A	ENST00000421285.3	+	11	1037	c.1037T>A	c.(1036-1038)cTc>cAc	p.L346H	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	346						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGGAGATGCTCCGAGAGCAG	0.562																																							uc010uks.1		NA																	0					0						c.(1036-1038)CTC>CAC		golgi autoantigen, golgin subfamily a, 6B							63.0	64.0	64.0					15																	72954782		2061	3868	5929	SO:0001583	missense	55889							g.chr15:72954782T>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1037T>A	15.37:g.72954782T>A	ENSP00000408132:p.Leu346His						p.L346H	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	1078	+			346			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1037T>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	4.172	0.030389	0.08101	.	.	ENSG00000215186	ENST00000421285	T	0.24723	1.84	.	.	.	.	.	.	.	.	T	0.28400	0.0702	M	0.83312	2.635	0.21967	N	0.999445	B	0.23735	0.09	B	0.24394	0.053	T	0.32877	-0.9890	8	0.46703	T	0.11	.	4.5176	0.11943	0.0:7.0E-4:0.0:0.9993	.	346	A6NDN3	GOG6B_HUMAN	H	346	ENSP00000408132:L346H	ENSP00000408132:L346H	L	+	2	0	GOLGA6B	70741836	0.001000	0.12720	0.157000	0.22605	0.194000	0.23727	-0.566000	0.05922	0.077000	0.16863	0.076000	0.15429	CTC		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		77	359	0	0	0	0.00361	0	77	359				
SEMA7A	8482	broad.mit.edu	37	15	74703307	74703307	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:74703307C>G	ENST00000261918.4	-	14	2207	c.1659G>C	c.(1657-1659)aaG>aaC	p.K553N	SEMA7A_ENST00000542748.1_Missense_Mutation_p.K388N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.K539N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	553	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCAGGGAAACCTTCTGCAGTG	0.627																																							uc002axv.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1657-1659)AAG>AAC		semaphorin 7A isoform 1 preproprotein							73.0	79.0	77.0					15																	74703307		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703307C>G	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1659G>C	15.37:g.74703307C>G	ENSP00000261918:p.Lys553Asn					SEMA7A_uc010ulk.1_Missense_Mutation_p.K388N|SEMA7A_uc010ull.1_Missense_Mutation_p.K539N	p.K553N	NM_003612	NP_003603	O75326	SEM7A_HUMAN			14	1699	-			553			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1659G>C	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131116	0.37630	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.39592	1.07;1.07;1.07	4.55	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.566347	0.17146	N	0.185280	T	0.23688	0.0573	L	0.38531	1.155	0.32619	N	0.523628	P;P	0.44986	0.816;0.847	B;B	0.37451	0.162;0.25	T	0.25984	-1.0116	10	0.15066	T	0.55	-27.3288	5.5307	0.16983	0.1233:0.5813:0.2084:0.0869	.	539;553	F5H1S0;O75326	.;SEM7A_HUMAN	N	553;539;388	ENSP00000261918:K553N;ENSP00000438966:K539N;ENSP00000441493:K388N	ENSP00000261918:K553N	K	-	3	2	SEMA7A	72490360	0.983000	0.35010	1.000000	0.80357	0.991000	0.79684	-0.030000	0.12308	0.915000	0.36847	0.555000	0.69702	AAG		0.627	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		10	81	0	0	0	0.008291	0	10	81				
CSPG4	1464	broad.mit.edu	37	15	75980924	75980924	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:75980924C>G	ENST00000308508.5	-	3	2574	c.2482G>C	c.(2482-2484)Gct>Cct	p.A828P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	828	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTCCTGGGAGCCTGAACCACC	0.617																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2482-2484)GCT>CCT		chondroitin sulfate proteoglycan 4 precursor							50.0	56.0	54.0					15																	75980924		2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980924C>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2482G>C	15.37:g.75980924C>G	ENSP00000312506:p.Ala828Pro						p.A828P	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	2575	-			828			CSPG 4.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2482G>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	8.815	0.936084	0.18206	.	.	ENSG00000173546	ENST00000308508	T	0.33438	1.41	5.3	4.36	0.52297	.	0.170608	0.41194	D	0.000939	T	0.19485	0.0468	L	0.39085	1.19	0.39550	D	0.968952	B	0.09022	0.002	B	0.04013	0.001	T	0.08207	-1.0733	10	0.02654	T	1	.	10.0435	0.42173	0.1555:0.6946:0.1499:0.0	.	828	Q6UVK1	CSPG4_HUMAN	P	828	ENSP00000312506:A828P	ENSP00000312506:A828P	A	-	1	0	CSPG4	73767979	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	2.437000	0.44828	1.182000	0.42928	0.650000	0.86243	GCT		0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		11	69	0	0	0	0.001368	0	11	69				
ACSBG1	23205	broad.mit.edu	37	15	78486874	78486874	+	Missense_Mutation	SNP	G	G	T	rs573692044		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:78486874G>T	ENST00000258873.4	-	3	632	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	143					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGGCTCTGCGGGCGAGCAGG	0.622																																							uc002bdh.2		NA																	0				ovary(1)	1						c.(427-429)CGC>AGC		lipidosin							70.0	74.0	73.0					15																	78486874		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78486874G>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.427C>A	15.37:g.78486874G>T	ENSP00000258873:p.Arg143Ser					ACSBG1_uc010umw.1_Missense_Mutation_p.R143S|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.R36S	p.R143S	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			3	483	-			143					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.427C>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746404	0.89663	.	.	ENSG00000103740	ENST00000258873	T	0.40756	1.02	5.12	5.12	0.69794	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.81239	2.535	0.80722	D	1	D;P	0.56746	0.977;0.91	D;P	0.63597	0.916;0.804	T	0.62812	-0.6775	10	0.36615	T	0.2	-34.7626	13.0806	0.59112	0.0:0.0:0.8389:0.1611	.	143;143	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	S	143	ENSP00000258873:R143S	ENSP00000258873:R143S	R	-	1	0	ACSBG1	76273929	1.000000	0.71417	0.880000	0.34516	0.977000	0.68977	4.396000	0.59684	2.380000	0.81148	0.655000	0.94253	CGC		0.622	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		7	32	1	0	0.00198382	0.001984	0.00231877	7	32				
CHRNA5	1138	broad.mit.edu	37	15	78882859	78882859	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:78882859C>G	ENST00000299565.5	+	5	1326	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	376					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	GTACTTCACTCAGAAAGAGGA	0.438																																							uc002bdy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1126-1128)CAG>GAG		cholinergic receptor, nicotinic, alpha 5							97.0	91.0	93.0					15																	78882859		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78882859C>G		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1126C>G	15.37:g.78882859C>G	ENSP00000299565:p.Gln376Glu					CHRNA5_uc002bdz.2_Intron	p.Q376E	NM_000745	NP_000736	P30532	ACHA5_HUMAN			5	1288	+			376			Cytoplasmic (Potential).		Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.1126C>G	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148291	0.57151	.	.	ENSG00000169684	ENST00000299565	D	0.85339	-1.97	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (3);	1.562790	0.04354	N	0.356175	T	0.80665	0.4666	L	0.39020	1.185	0.30441	N	0.776219	B	0.28713	0.22	B	0.27500	0.08	T	0.63501	-0.6623	10	0.12103	T	0.63	.	13.2647	0.60127	0.1587:0.8413:0.0:0.0	.	376	P30532	ACHA5_HUMAN	E	376	ENSP00000299565:Q376E	ENSP00000299565:Q376E	Q	+	1	0	CHRNA5	76669914	0.009000	0.17119	0.075000	0.20258	0.899000	0.52679	1.092000	0.30927	2.382000	0.81193	0.558000	0.71614	CAG		0.438	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			3	88	0	0	0	0.004672	0	3	88				
ADAMTS7	11173	broad.mit.edu	37	15	79051871	79051871	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:79051871T>A	ENST00000388820.4	-	24	5163	c.4953A>T	c.(4951-4953)ctA>ctT	p.L1651L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1651	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGGCCCAGTAGGCGCAGCG	0.706																																							uc002bej.3		NA																	0					0						c.(4951-4953)CTA>CTT		ADAM metallopeptidase with thrombospondin type 1							9.0	12.0	11.0					15																	79051871		2154	4243	6397	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051871T>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4953A>T	15.37:g.79051871T>A							p.L1651L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			24	5164	-			1651			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4953A>T	CCDS32303.1																																																																																				0.706	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	13	0	0	0	0.000248	0	4	13				
ADAMTS7	11173	broad.mit.edu	37	15	79090375	79090375	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:79090375C>G	ENST00000388820.4	-	3	747	c.537G>C	c.(535-537)caG>caC	p.Q179H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	179					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACATGGGGCTGGGCGTGGC	0.627																																							uc002bej.3		NA																	0					0						c.(535-537)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							63.0	63.0	63.0					15																	79090375		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79090375C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.537G>C	15.37:g.79090375C>G	ENSP00000373472:p.Gln179His					ADAMTS7_uc010und.1_Missense_Mutation_p.Q179H|ADAMTS7_uc002bek.1_Missense_Mutation_p.Q179H	p.Q179H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			3	748	-			179					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.537G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532409	0.27387	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.06218	3.33	4.26	0.895	0.19247	Peptidase M12B, propeptide (1);	0.231750	0.36628	N	0.002494	T	0.04815	0.0130	N	0.21373	0.66	0.32881	D	0.51058	B;B;P	0.49961	0.024;0.127;0.93	B;B;P	0.49387	0.02;0.086;0.609	T	0.14309	-1.0477	10	0.02654	T	1	.	7.9298	0.29895	0.0:0.6058:0.3041:0.0901	.	179;179;179	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	H	179	ENSP00000373472:Q179H	ENSP00000373472:Q179H	Q	-	3	2	ADAMTS7	76877430	0.982000	0.34865	0.993000	0.49108	0.245000	0.25701	0.384000	0.20668	0.338000	0.23692	0.313000	0.20887	CAG		0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		16	46	0	0	0	0.004007	0	16	46				
ARNT2	9915	broad.mit.edu	37	15	80767527	80767527	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:80767527G>T	ENST00000303329.4	+	5	750	c.585G>T	c.(583-585)ctG>ctT	p.L195L	ARNT2_ENST00000533983.1_Silent_p.L184L|ARNT2_ENST00000527771.1_Silent_p.L184L|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	195	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGGAGAAGCTGAGAGAGCAAC	0.512																																							uc002bfr.2		NA																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(583-585)CTG>CTT		aryl hydrocarbon receptor nuclear translocator							100.0	97.0	98.0					15																	80767527		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767527G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.585G>T	15.37:g.80767527G>T						ARNT2_uc002bfq.2_Silent_p.L195L|ARNT2_uc010unm.1_Silent_p.L184L|ARNT2_uc002bfs.2_Silent_p.L184L	p.L195L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		5	751	+			195			PAS 1.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.585G>T	CCDS32307.1																																																																																				0.512	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			19	56	1	0	2.94398e-08	0.007413	4.37364e-08	19	56				
STARD5	80765	broad.mit.edu	37	15	81615245	81615245	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:81615245C>T	ENST00000302824.6	-	2	169	c.144G>A	c.(142-144)ggG>ggA	p.G48G	STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	48	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CTTACAGGTTCCCTGGAAACT	0.478																																							uc002bgm.2		NA																	0				ovary(1)	1						c.(142-144)GGG>GGA		StAR-related lipid transfer protein 5							77.0	77.0	77.0					15																	81615245		2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81615245C>T	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.144G>A	15.37:g.81615245C>T						STARD5_uc002bgn.2_Intron	p.G48G	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN			2	228	-			48			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.144G>A	CCDS10318.1																																																																																				0.478	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			14	48	0	0	0	0.003163	0	14	48				
CPEB1	64506	broad.mit.edu	37	15	83226674	83226674	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:83226674G>T	ENST00000562019.1	-	4	758	c.442C>A	c.(442-444)Cct>Act	p.P148T	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.P73T|CPEB1_ENST00000564522.1_Missense_Mutation_p.P73T|CPEB1_ENST00000568128.1_Missense_Mutation_p.P148T|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.P151T|CPEB1_ENST00000423133.2_Missense_Mutation_p.P73T|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000563800.1_Missense_Mutation_p.P175T|CPEB1_ENST00000398591.2_Missense_Mutation_p.P73T|CPEB1_ENST00000450751.2_Missense_Mutation_p.P73T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	148					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATCCAGAGGCAGGAAGCTC	0.532																																							uc002bit.2		NA																	0				ovary(1)|breast(1)	2						c.(622-624)CCT>ACT		cytoplasmic polyadenylation element binding							66.0	67.0	67.0					15																	83226674		1894	4121	6015	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83226674G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.442C>A	15.37:g.83226674G>T	ENSP00000457836:p.Pro148Thr					CPEB1_uc002biq.2_Missense_Mutation_p.P73T|CPEB1_uc002bir.2_Missense_Mutation_p.P73T|CPEB1_uc002bis.2_Missense_Mutation_p.P73T|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.P151T|CPEB1_uc002biu.2_Missense_Mutation_p.P175T|CPEB1_uc010uof.1_Missense_Mutation_p.P73T|CPEB1_uc002biv.2_Missense_Mutation_p.P148T|CPEB1_uc002bip.2_5'Flank	p.P208T	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	759	-			148					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.622C>A		.	.	.	.	.	.	.	.	.	.	G	15.57	2.871775	0.51695	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.84	4.91	0.64330	.	0.347002	0.30159	U	0.010274	T	0.45135	0.1327	N	0.19112	0.55	0.80722	D	1	B;B;B;P	0.38827	0.421;0.008;0.421;0.649	B;B;B;B	0.44044	0.322;0.018;0.322;0.439	T	0.45571	-0.9252	9	0.46703	T	0.11	-5.7808	14.0398	0.64667	0.0731:0.0:0.9269:0.0	.	151;148;148;148	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	T	148;148;73;73;151	.	ENSP00000261723:P151T	P	-	1	0	CPEB1	81023729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.040000	0.64191	1.459000	0.47892	0.655000	0.94253	CCT		0.532	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		10	58	1	0	7.48243e-07	0.006214	1.04676e-06	10	58				
NTRK3	4916	broad.mit.edu	37	15	88680741	88680741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:88680741C>A	ENST00000360948.2	-	6	677	c.516G>T	c.(514-516)caG>caT	p.Q172H	NTRK3_ENST00000540489.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000317501.3_Missense_Mutation_p.Q172H|NTRK3_ENST00000394480.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q172H|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q74H|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q172H|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q172H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	172	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGCCAGAGCTGCATCCAGC	0.567			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(514-516)CAG>CAT		neurotrophic tyrosine kinase, receptor, type 3							100.0	78.0	85.0					15																	88680741		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88680741C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.516G>T	15.37:g.88680741C>A	ENSP00000354207:p.Gln172His	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.Q172H|NTRK3_uc002bmf.1_Missense_Mutation_p.Q172H|NTRK3_uc010upl.1_Missense_Mutation_p.Q74H|NTRK3_uc010bnh.1_Missense_Mutation_p.Q172H|NTRK3_uc002bmg.2_Missense_Mutation_p.Q172H	p.Q172H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		6	678	-			172			Extracellular (Potential).|LRRCT.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.516G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140623	0.94560	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.71	5.71	0.89125	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94889	0.8348	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.996;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.81914	0.995;0.986;0.971;0.995;0.992;0.976	D	0.94987	0.8131	10	0.87932	D	0	.	18.8654	0.92290	0.0:1.0:0.0:0.0	.	74;172;172;172;172;172	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	H	172;172;172;172;74;172;172	ENSP00000377990:Q172H;ENSP00000354207:Q172H;ENSP00000350356:Q172H;ENSP00000347397:Q172H;ENSP00000437773:Q74H;ENSP00000444673:Q172H;ENSP00000318328:Q172H	ENSP00000318328:Q172H	Q	-	3	2	NTRK3	86481745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.643000	0.67895	2.686000	0.91538	0.650000	0.86243	CAG		0.567	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				9	19	1	0	1.12685e-05	0.004482	1.48953e-05	9	19				
FURIN	5045	broad.mit.edu	37	15	91423431	91423431	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:91423431A>G	ENST00000268171.3	+	13	1763	c.1484A>G	c.(1483-1485)tAt>tGt	p.Y495C		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	495					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCCTGTCCTATAATCGCCGT	0.692																																							uc002bpu.1		NA																	0				central_nervous_system(4)|lung(2)|breast(1)	7						c.(1483-1485)TAT>TGT		furin preproprotein							41.0	41.0	41.0					15																	91423431		2197	4295	6492	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91423431A>G	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1484A>G	15.37:g.91423431A>G	ENSP00000268171:p.Tyr495Cys						p.Y495C	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		13	1700	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		495					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1484A>G	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946686	0.73672	.	.	ENSG00000140564	ENST00000268171	T	0.76839	-1.05	4.82	4.82	0.62117	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91648	0.5332	10	0.66056	D	0.02	-25.6597	14.5932	0.68386	1.0:0.0:0.0:0.0	.	495	P09958	FURIN_HUMAN	C	495	ENSP00000268171:Y495C	ENSP00000268171:Y495C	Y	+	2	0	FURIN	89224435	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.990000	0.76225	2.037000	0.60232	0.397000	0.26171	TAT		0.692	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		4	22	0	0	0	0.000602	0	4	22				
C15orf32	145858	broad.mit.edu	37	15	93015532	93015532	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:93015532T>A	ENST00000333334.2	+	1	649	c.154T>A	c.(154-156)Tgg>Agg	p.W52R	C15orf32_ENST00000556865.1_Missense_Mutation_p.W52R|RP11-763K15.1_ENST00000554440.1_lincRNA	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	52										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GCCATGTGTCTGGACCCTGTG	0.498																																							uc002brc.1		NA																	0				ovary(1)	1						c.(154-156)TGG>AGG		hypothetical protein LOC145858							105.0	105.0	105.0					15																	93015532		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93015532T>A		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.154T>A	15.37:g.93015532T>A	ENSP00000330267:p.Trp52Arg					C15orf32_uc010bod.1_RNA	p.W52R	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		1	626	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		52					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.154T>A	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	T	6.887	0.533170	0.13188	.	.	ENSG00000183643	ENST00000333334	T	0.56444	0.46	1.9	-2.45	0.06481	.	.	.	.	.	T	0.27313	0.0670	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19031	-1.0318	9	0.87932	D	0	.	0.1556	0.00097	0.2372:0.1669:0.2413:0.3546	.	52	Q32M92	CO032_HUMAN	R	52	ENSP00000330267:W52R	ENSP00000330267:W52R	W	+	1	0	C15orf32	90816536	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.224000	0.17738	-0.685000	0.05177	-1.252000	0.01501	TGG		0.498	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		19	96	0	0	0	0.001216	0	19	96				
FAM169B	283777	broad.mit.edu	37	15	98995109	98995109	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:98995109T>A	ENST00000558256.1	-	5	564	c.315A>T	c.(313-315)ccA>ccT	p.P105P	FAM169B_ENST00000332908.4_Silent_p.P105P	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	105										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCTCGTCCTCTGGGAATGTCT	0.562																																							uc002buk.1		NA																	0					0						c.(313-315)CCA>CCT		hypothetical protein LOC283777							45.0	49.0	48.0					15																	98995109		2003	4171	6174	SO:0001819	synonymous_variant	283777							g.chr15:98995109T>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.315A>T	15.37:g.98995109T>A							p.P105P	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			5	565	-			105					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.315A>T	CCDS45360.1																																																																																				0.562	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		5	14	0	0	0	0.000602	0	5	14				
IGF1R	3480	broad.mit.edu	37	15	99250831	99250831	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:99250831G>T	ENST00000268035.6	+	2	746	c.135G>T	c.(133-135)caG>caT	p.Q45H	IGF1R_ENST00000558762.1_Missense_Mutation_p.Q45H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	45					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACTATCAGCAGCTGAAGCGCC	0.527																																							uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(133-135)CAG>CAT		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						63.0	50.0	55.0					15																	99250831		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250831G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.135G>T	15.37:g.99250831G>T	ENSP00000268035:p.Gln45His					IGF1R_uc010urq.1_Missense_Mutation_p.Q45H|IGF1R_uc010bon.2_Missense_Mutation_p.Q45H	p.Q45H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	185	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		45					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.135G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000386	0.35320	.	.	ENSG00000140443	ENST00000268035	D	0.82344	-1.6	5.49	4.57	0.56435	.	0.114904	0.35525	N	0.003160	T	0.70150	0.3191	N	0.24115	0.695	0.36845	D	0.887619	B;B	0.31910	0.346;0.002	B;B	0.30029	0.11;0.001	T	0.71652	-0.4528	10	0.35671	T	0.21	.	9.7467	0.40451	0.1566:0.0:0.8434:0.0	.	45;45	C9J5X1;P08069	.;IGF1R_HUMAN	H	45	ENSP00000268035:Q45H	ENSP00000268035:Q45H	Q	+	3	2	IGF1R	97068354	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.730000	0.55006	1.447000	0.47661	0.655000	0.94253	CAG		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		7	25	1	0	8.12818e-05	0.001984	0.000101263	7	25				
LRRC28	123355	broad.mit.edu	37	15	99901651	99901651	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:99901651A>G	ENST00000301981.3	+	8	1046	c.806A>G	c.(805-807)cAc>cGc	p.H269R	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.H200R|LRRC28_ENST00000447360.2_Missense_Mutation_p.H269R|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	269										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GAGCATGATCACGTCCTCCCT	0.507											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002bva.1		NA																	0					0						c.(805-807)CAC>CGC		leucine rich repeat containing 28							194.0	156.0	169.0					15																	99901651		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901651A>G	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.806A>G	15.37:g.99901651A>G	ENSP00000304923:p.His269Arg		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.H115R|LRRC28_uc010urt.1_Missense_Mutation_p.H83R|LRRC28_uc002bvc.1_Missense_Mutation_p.H269R|LRRC28_uc010uru.1_Missense_Mutation_p.H200R|LRRC28_uc002bvd.1_Intron	p.H269R	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		8	961	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		269					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.806A>G	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	A	9.799	1.179990	0.21787	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.42131	1.11;0.98;1.55	5.25	-2.83	0.05769	.	0.699813	0.16017	N	0.233505	T	0.29817	0.0745	L	0.54323	1.7	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.21177	-1.0253	10	0.23891	T	0.37	.	6.7903	0.23695	0.4754:0.0:0.4067:0.1178	.	200;269;269	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	R	269;269;200	ENSP00000304923:H269R;ENSP00000404520:H269R;ENSP00000398606:H200R	ENSP00000304923:H269R	H	+	2	0	LRRC28	97719174	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	-0.117000	0.10708	-0.751000	0.04734	0.533000	0.62120	CAC		0.507	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		32	80	0	0	0	0.002096	0	32	80				
CERS3	204219	broad.mit.edu	37	15	101024836	101024836	+	Missense_Mutation	SNP	G	G	C	rs138661052	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:101024836G>C	ENST00000394113.1	-	7	1016	c.326C>G	c.(325-327)aCg>aGg	p.T109R	CERS3_ENST00000284382.4_Missense_Mutation_p.T109R|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.T109R			Q8IU89	CERS3_HUMAN	ceramide synthase 3	109					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.T109M(1)									CTGGCGCTCCGTCAAGTTACA	0.478																																						NSCLC(135;1149 2482 10680 49908)	uc002bvz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(325-327)ACG>AGG		LAG1 longevity assurance homolog 3							80.0	67.0	71.0					15																	101024836		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101024836G>C		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.326C>G	15.37:g.101024836G>C	ENSP00000377672:p.Thr109Arg					LASS3_uc002bwa.2_Missense_Mutation_p.T120R|LASS3_uc002bwb.2_Missense_Mutation_p.T109R	p.T109R	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		6	828	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		109			Homeobox.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.326C>G	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687993	0.88639	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.96619	-4.07;-4.07	5.26	5.26	0.73747	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.111460	0.64402	D	0.000007	D	0.98093	0.9371	M	0.82323	2.585	0.58432	D	0.999996	D	0.69078	0.997	D	0.69824	0.966	D	0.98965	1.0799	10	0.72032	D	0.01	-12.3621	17.6304	0.88104	0.0:0.0:1.0:0.0	.	109	Q8IU89	CERS3_HUMAN	R	109;120;109	ENSP00000284382:T109R;ENSP00000437640:T109R	ENSP00000284382:T109R	T	-	2	0	CERS3	98842359	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	8.188000	0.89710	2.448000	0.82819	0.655000	0.94253	ACG		0.478	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		9	18	0	0	0	0.004482	0	9	18				
POLR3K	51728	broad.mit.edu	37	16	101609	101609	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:101609C>G	ENST00000293860.5	-	2	189	c.148G>C	c.(148-150)Gat>Cat	p.D50H	SNRNP25_ENST00000383018.3_5'Flank	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	50					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AGCACATCATCCACTTCTTTC	0.443																																							uc002cfi.1		NA																	0					0						c.(148-150)GAT>CAT		DNA directed RNA polymerase III polypeptide K							131.0	115.0	121.0					16																	101609		2203	4300	6503	SO:0001583	missense	51728				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr16:101609C>G	AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"""RNA polymerase subunits"""	14121	protein-coding gene	gene with protein product		606007	"""polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"""			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.148G>C	16.37:g.101609C>G	ENSP00000293860:p.Asp50His					SNRNP25_uc002cfj.3_5'Flank	p.D50H	NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN			2	187	-		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	50					Q1W6H4|Q96S35	Missense_Mutation	SNP	ENST00000293860.5	37	c.148G>C	CCDS10395.1	.	.	.	.	.	.	.	.	.	.	.	31	5.073339	0.94000	.	.	ENSG00000161980	ENST00000293860	T	0.46819	0.86	5.3	5.3	0.74995	DNA-directed RNA polymerase, M/15kDa subunit (1);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.85945	2.785	0.80722	D	1	D	0.55800	0.973	P	0.56514	0.8	T	0.74979	-0.3479	10	0.87932	D	0	-32.8595	17.524	0.87794	0.0:1.0:0.0:0.0	.	50	Q9Y2Y1	RPC10_HUMAN	H	50	ENSP00000293860:D50H	ENSP00000293860:D50H	D	-	1	0	POLR3K	41609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.077000	0.76814	2.477000	0.83638	0.643000	0.83706	GAT		0.443	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1	NM_016310		5	50	0	0	0	0.000602	0	5	50				
RHBDF1	64285	broad.mit.edu	37	16	111616	111616	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:111616G>A	ENST00000262316.6	-	9	1429	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	RHBDF1_ENST00000454039.2_Silent_p.P429P	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	429					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGAAGCCCACGGGCGCGATGC	0.667																																							uc002cfl.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1285-1287)CCC>CCT		rhomboid family 1							72.0	66.0	68.0					16																	111616		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111616G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1287C>T	16.37:g.111616G>A						RHBDF1_uc010uty.1_Silent_p.P452P|RHBDF1_uc010utz.1_Silent_p.P429P|RHBDF1_uc010bqo.1_RNA	p.P429P	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			12	1435	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	429			Helical; (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1287C>T	CCDS32344.1																																																																																				0.667	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		20	37	0	0	0	0.001523	0	20	37				
MSLNL	401827	broad.mit.edu	37	16	830355	830355	+	Intron	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:830355G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.H216Y			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGGAGCATGCACAGGCGTG	0.602																																							uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(646-648)CAT>TAT		mesothelin-like							100.0	88.0	92.0					16																	830355		2162	4258	6420	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830355G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-193C>T	16.37:g.830355G>A							p.H216Y	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			3	646	-			Error:Variant_position_missing_in_Q96KJ4_after_alignment						Missense_Mutation	SNP	ENST00000442466.1	37	c.646C>T		.	.	.	.	.	.	.	.	.	.	G	11.12	1.544550	0.27563	.	.	ENSG00000162006	ENST00000293892	T	0.16457	2.34	1.42	-2.44	0.06502	.	.	.	.	.	T	0.08980	0.0222	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36237	-0.9756	5	.	.	.	.	2.6771	0.05084	0.5238:0.0:0.253:0.2232	.	.	.	.	Y	216	ENSP00000293892:H216Y	.	H	-	1	0	MSLNL	770356	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.219000	0.09228	-0.743000	0.04784	-0.718000	0.03613	CAT		0.602	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		9	23	0	0	0	0.004482	0	9	23				
SSTR5	6755	broad.mit.edu	37	16	1129561	1129561	+	Silent	SNP	G	G	A	rs35804776	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:1129561G>A	ENST00000293897.4	+	1	781	c.693G>A	c.(691-693)gcG>gcA	p.A231A	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.A231A|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	231					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGAGGGCGGCGGGCGTGCGCG	0.667													G|||	6	0.00119808	0.0008	0.0014	5008	,	,		14504	0.0		0.002	False		,,,				2504	0.002						uc002ckq.2		NA																	0				lung(1)	1						c.(691-693)GCG>GCA		somatostatin receptor 5	Octreotide(DB00104)	G	,	13,4367	21.2+/-45.6	0,13,2177	84.0	80.0	81.0		693,693	-9.5	0.0	16	dbSNP_126	81	26,8560	17.9+/-57.8	0,26,4267	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,39,6444	AA,AG,GG		0.3028,0.2968,0.3008	,	231/365,231/365	1129561	39,12927	2190	4293	6483	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129561G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.693G>A	16.37:g.1129561G>A						LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.A231A	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	781	+		Hepatocellular(780;0.00369)	231			Cytoplasmic (Potential).		P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.693G>A	CCDS10429.1																																																																																				0.667	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	20	0	0	0	0.004482	0	9	20				
C16orf91	283951	broad.mit.edu	37	16	1479269	1479269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:1479269G>T	ENST00000310355.1	-	1	76	c.77C>A	c.(76-78)tCg>tAg	p.S26*				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCTGTGCCGATGCTGTCCC	0.657																																							uc010uvd.1		NA																	0					0						c.(76-78)TCG>TAG		hypothetical protein LOC283951							121.0	130.0	127.0					16																	1479269		2199	4300	6499	SO:0001587	stop_gained	283951					integral to membrane		g.chr16:1479269G>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.77C>A	16.37:g.1479269G>T	ENSP00000311390:p.Ser26*						p.S26*	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			1	77	-			Error:Variant_position_missing_in_Q4G0I0_after_alignment					Q96RZ0	Nonsense_Mutation	SNP	ENST00000310355.1	37	c.77C>A	CCDS32360.1	.	.	.	.	.	.	.	.	.	.	g	13.41	2.229549	0.39399	.	.	ENSG00000174109	ENST00000310355	.	.	.	1.17	-1.05	0.10036	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.4771	0.04578	0.2395:0.3252:0.4353:0.0	.	.	.	.	X	26	.	ENSP00000311390:S26X	S	-	2	0	C16orf91	1419270	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.267000	0.08619	-0.351000	0.08249	-0.271000	0.10264	TCG		0.657	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		8	113	1	0	0.00307968	0.00308	0.00357786	8	113				
ZSCAN10	84891	broad.mit.edu	37	16	3142715	3142715	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:3142715G>T	ENST00000252463.2	-	1	146	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	ZSCAN10_ENST00000572548.1_Missense_Mutation_p.P20Q|ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Silent_p.A27A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	20	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGCAGAGCCGGCCGCAGCCA	0.672																																							uc002ctv.1		NA																	0				ovary(1)	1						c.(58-60)CCG>CAG		zinc finger and SCAN domain containing 10							14.0	17.0	16.0					16																	3142715		2182	4261	6443	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3142715G>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.59C>A	16.37:g.3142715G>T	ENSP00000252463:p.Pro20Gln					ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Silent_p.A27A|ZSCAN10_uc002ctx.1_5'UTR	p.P20Q	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			1	147	-			20			SCAN box.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.59C>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691692	0.48097	.	.	ENSG00000130182	ENST00000252463	T	0.12039	2.72	5.39	5.39	0.77823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.49916	D	0.000127	T	0.46946	0.1419	M	0.93106	3.38	0.34044	D	0.655335	D	0.89917	1.0	D	0.81914	0.995	T	0.68857	-0.5298	10	0.87932	D	0	-31.8383	14.6603	0.68865	0.0:0.0:1.0:0.0	.	20	Q96SZ4	ZSC10_HUMAN	Q	20	ENSP00000252463:P20Q	ENSP00000252463:P20Q	P	-	2	0	ZSCAN10	3082716	.	.	0.947000	0.38551	0.779000	0.44077	.	.	2.532000	0.85374	0.555000	0.69702	CCG		0.672	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		6	18	1	0	0.00198382	0.001984	0.00231877	6	18				
SLX4	84464	broad.mit.edu	37	16	3639743	3639743	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:3639743C>A	ENST00000294008.3	-	12	4536	c.3896G>T	c.(3895-3897)aGg>aTg	p.R1299M		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1299	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTTCCCTTCCCTGTTTCCTAC	0.612								Direct reversal of damage																															uc002cvp.2		NA																	0					0						c.(3895-3897)AGG>ATG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							202.0	189.0	193.0					16																	3639743		2197	4300	6497	SO:0001583	missense	84464	FanconAnemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639743C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3896G>T	16.37:g.3639743C>A	ENSP00000294008:p.Arg1299Met						p.R1299M	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	4523	-			1299			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3896G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764794	0.69878	.	.	ENSG00000188827	ENST00000294008	T	0.01246	5.11	5.78	-0.117	0.13551	.	0.702810	0.13914	N	0.354023	T	0.01320	0.0043	L	0.50333	1.59	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.46721	-0.9171	10	0.48119	T	0.1	.	0.8517	0.01174	0.1578:0.3109:0.2703:0.261	.	1299	Q8IY92	SLX4_HUMAN	M	1299	ENSP00000294008:R1299M	ENSP00000294008:R1299M	R	-	2	0	SLX4	3579744	0.000000	0.05858	0.012000	0.15200	0.086000	0.17979	0.033000	0.13754	0.364000	0.24374	0.655000	0.94253	AGG		0.612	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		14	103	1	0	6.31663e-08	0.003163	9.24099e-08	14	103				
GLIS2	84662	broad.mit.edu	37	16	4385127	4385127	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:4385127G>A	ENST00000262366.3	+	6	1410	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.E197K|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	197					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTCAAGCCCGAGAAGGATGC	0.612																																							uc002cwc.1		NA																	0					0						c.(589-591)GAG>AAG		GLIS family zinc finger 2							65.0	71.0	69.0					16																	4385127		2197	4300	6497	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4385127G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.589G>A	16.37:g.4385127G>A	ENSP00000262366:p.Glu197Lys						p.E197K	NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN			4	646	+			197					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.589G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779272	0.90195	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	D;D	0.91180	-2.8;-2.8	5.53	5.53	0.82687	.	0.116330	0.56097	D	0.000027	D	0.84759	0.5543	L	0.41824	1.3	0.80722	D	1	P	0.36660	0.564	B	0.18263	0.021	D	0.84020	0.0353	10	0.33141	T	0.24	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	197	Q9BZE0	GLIS2_HUMAN	K	197	ENSP00000262366:E197K;ENSP00000395547:E197K	ENSP00000262366:E197K	E	+	1	0	GLIS2	4325128	1.000000	0.71417	0.955000	0.39395	0.948000	0.59901	7.808000	0.86044	2.615000	0.88500	0.555000	0.69702	GAG		0.612	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		9	55	0	0	0	0.004482	0	9	55				
ANKS3	124401	broad.mit.edu	37	16	4747383	4747383	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:4747383C>G	ENST00000304283.4	-	16	2139	c.1845G>C	c.(1843-1845)atG>atC	p.M615I	ANKS3_ENST00000446014.2_Missense_Mutation_p.M486I|ANKS3_ENST00000585773.1_Missense_Mutation_p.M542I	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	615										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CGGGGAGGCTCATGGCCTGCA	0.642																																							uc002cxj.1		NA																	0					0						c.(1843-1845)ATG>ATC		ankyrin repeat and sterile alpha motif domain							66.0	70.0	68.0					16																	4747383		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4747383C>G	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1845G>C	16.37:g.4747383C>G	ENSP00000304586:p.Met615Ile					ANKS3_uc010uxr.1_Missense_Mutation_p.M138I|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.M542I|ANKS3_uc002cxk.2_Missense_Mutation_p.M486I|ANKS3_uc002cxl.2_Missense_Mutation_p.M442I|ANKS3_uc010uxs.1_Missense_Mutation_p.M542I	p.M615I	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			16	2140	-			615					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1845G>C	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304332	0.60305	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.34072	1.38;3.12	5.07	5.07	0.68467	.	0.378995	0.28859	N	0.013920	T	0.29716	0.0742	L	0.29908	0.895	0.80722	D	1	B	0.17465	0.022	B	0.13407	0.009	T	0.06917	-1.0800	10	0.56958	D	0.05	1.3989	15.1738	0.72896	0.0:1.0:0.0:0.0	.	615	Q6ZW76	ANKS3_HUMAN	I	615;486	ENSP00000304586:M615I;ENSP00000406796:M486I	ENSP00000304586:M615I	M	-	3	0	ANKS3	4687384	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.517000	0.35867	2.361000	0.80049	0.462000	0.41574	ATG		0.642	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		5	56	0	0	0	0.001168	0	5	56				
GRIN2A	2903	broad.mit.edu	37	16	9858247	9858247	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:9858247G>T	ENST00000396573.2	-	14	3463	c.3154C>A	c.(3154-3156)Ctt>Att	p.L1052I	GRIN2A_ENST00000404927.2_Missense_Mutation_p.L1052I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L1052I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L1052I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L1052I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L895I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1052					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTCTGGAAGATACCTAGGG	0.507																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3154-3156)CTT>ATT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						133.0	137.0	135.0					16																	9858247		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858247G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3154C>A	16.37:g.9858247G>T	ENSP00000379818:p.Leu1052Ile					GRIN2A_uc010uym.1_Missense_Mutation_p.L1052I|GRIN2A_uc010uyn.1_Missense_Mutation_p.L895I|GRIN2A_uc002czr.3_Missense_Mutation_p.L1052I	p.L1052I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3702	-			1052			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3154C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104065	0.76983	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12672	2.66;2.66;2.67;2.66;2.66	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.69078	0.992;0.994;0.997	D;D;D	0.79108	0.921;0.953;0.992	T	0.04930	-1.0917	9	.	.	.	.	18.0262	0.89270	0.0:0.0:1.0:0.0	.	895;1052;1052	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	1052;1052;895;1052;1052	ENSP00000379818:L1052I;ENSP00000385872:L1052I;ENSP00000441572:L895I;ENSP00000332549:L1052I;ENSP00000379820:L1052I	.	L	-	1	0	GRIN2A	9765748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.301000	0.59086	2.491000	0.84063	0.655000	0.94253	CTT		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			50	112	1	0	7.05377e-20	0.00361	1.35332e-19	50	112				
MKL2	57496	broad.mit.edu	37	16	14355224	14355224	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:14355224C>G	ENST00000341243.5	+	15	3190	c.3190C>G	c.(3190-3192)Cct>Gct	p.P1064A	MKL2_ENST00000571589.1_Missense_Mutation_p.P1075A|MKL2_ENST00000318282.5_Missense_Mutation_p.P1025A|MKL2_ENST00000574045.1_Missense_Mutation_p.P1025A			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1064					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGACTCACTCCTCTCAGCAC	0.527																																							uc010uza.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(3223-3225)CCT>GCT		megakaryoblastic leukemia 2 protein							88.0	79.0	82.0					16																	14355224		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14355224C>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3190C>G	16.37:g.14355224C>G	ENSP00000345841:p.Pro1064Ala					MKL2_uc002dcg.2_Missense_Mutation_p.P1025A|MKL2_uc002dcj.2_Missense_Mutation_p.P320A	p.P1075A	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			17	3378	+			1064					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.3223C>G		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351086	0.82132	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.81955	-0.0696	9	0.62326	D	0.03	-16.2506	18.4008	0.90515	0.0:1.0:0.0:0.0	.	1075;1025	B4DGT8;Q9ULH7-4	.;.	A	1025;1064	.	ENSP00000339086:P1025A	P	+	1	0	MKL2	14262725	1.000000	0.71417	0.615000	0.29064	0.958000	0.62258	7.188000	0.77739	2.592000	0.87571	0.591000	0.81541	CCT		0.527	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		4	41	0	0	0	0.000248	0	4	41				
GPR139	124274	broad.mit.edu	37	16	20043246	20043247	+	Missense_Mutation	DNP	CC	CC	AA	rs144836581		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:20043246_20043247CC>AA	ENST00000570682.1	-	2	1172_1173	c.872_873GG>TT	c.(871-873)cGG>cTT	p.R291L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGAT	0.505																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(871-873)CGG>CTT		G protein-coupled receptor 139																																				SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043246_20043247CC>AA	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.872_873delinsAA	16.37:g.20043246_20043247delinsAA	ENSP00000458791:p.Arg291Leu					GPR139_uc010vaw.1_Missense_Mutation_p.R198L	p.R291L	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	1034_1035	-			291			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	DNP	ENST00000570682.1	37	c.872_873GG>TT	CCDS32398.1																																																																																				0.505	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		28	84	0	0	0	0.004672	0	28	84				
ACSM2B	348158	broad.mit.edu	37	16	20565129	20565129	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:20565129C>A	ENST00000329697.6	-	5	878	c.710G>T	c.(709-711)aGc>aTc	p.S237I	ACSM2B_ENST00000567001.1_Missense_Mutation_p.S237I|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S237I|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S158I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	237					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAGGCCCAGGCTCGAGTAGGA	0.507																																							uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(709-711)AGC>ATC		acyl-CoA synthetase medium-chain family member							89.0	84.0	85.0					16																	20565129		2201	4297	6498	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565129C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.710G>T	16.37:g.20565129C>A	ENSP00000327453:p.Ser237Ile					ACSM2B_uc002dhk.3_Missense_Mutation_p.S237I|ACSM2B_uc010bwf.1_Missense_Mutation_p.S237I	p.S237I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			6	920	-			237					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.710G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063771	0.36373	.	.	ENSG00000066813	ENST00000329697	T	0.53640	0.61	3.36	3.36	0.38483	AMP-dependent synthetase/ligase (1);	0.000000	0.56097	D	0.000028	T	0.48059	0.1479	N	0.16130	0.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44112	-0.9349	10	0.32370	T	0.25	-19.9576	12.0765	0.53647	0.0:1.0:0.0:0.0	.	237;237	A8K051;Q68CK6	.;ACS2B_HUMAN	I	237	ENSP00000327453:S237I	ENSP00000327453:S237I	S	-	2	0	ACSM2B	20472630	1.000000	0.71417	0.905000	0.35620	0.029000	0.11900	4.621000	0.61233	1.878000	0.54408	0.609000	0.83330	AGC		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		6	72	1	0	1.12685e-05	0.004482	1.48953e-05	6	72				
ANKS4B	257629	broad.mit.edu	37	16	21261469	21261469	+	Missense_Mutation	SNP	C	C	A	rs376304434		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:21261469C>A	ENST00000311620.5	+	2	655	c.582C>A	c.(580-582)ttC>ttA	p.F194L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	194					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGCACATTCGGGTCACTAT	0.493																																							uc010bwp.1		NA																	0				ovary(2)	2						c.(580-582)TTC>TTA		harmonin-interacting ankyrin-repeat containing							95.0	96.0	96.0					16																	21261469		1960	4158	6118	SO:0001583	missense	257629							g.chr16:21261469C>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.582C>A	16.37:g.21261469C>A	ENSP00000308772:p.Phe194Leu					CRYM_uc010bwq.1_Intron	p.F194L	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	625	+			194						Missense_Mutation	SNP	ENST00000311620.5	37	c.582C>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.742041	0.00675	.	.	ENSG00000175311	ENST00000311620	T	0.39056	1.1	5.77	-0.613	0.11594	.	0.344167	0.31246	N	0.007981	T	0.28732	0.0712	M	0.72118	2.19	0.34691	D	0.725757	P	0.36483	0.555	B	0.30401	0.115	T	0.40997	-0.9533	10	0.09590	T	0.72	-16.0703	5.2558	0.15546	0.203:0.3791:0.0:0.4179	.	194	Q8N8V4	ANS4B_HUMAN	L	194	ENSP00000308772:F194L	ENSP00000308772:F194L	F	+	3	2	ANKS4B	21168970	0.020000	0.18652	0.899000	0.35326	0.217000	0.24651	-0.233000	0.09041	-0.340000	0.08388	-0.423000	0.05987	TTC		0.493	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		20	55	1	0	1.87028e-06	0.001882	2.58414e-06	20	55				
OTOA	146183	broad.mit.edu	37	16	21730494	21730494	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:21730494G>T	ENST00000286149.4	+	15	1713	c.1712G>T	c.(1711-1713)aGg>aTg	p.R571M	OTOA_ENST00000388958.3_Missense_Mutation_p.R557M|OTOA_ENST00000388956.4_Missense_Mutation_p.R478M|OTOA_ENST00000388957.3_Missense_Mutation_p.R233M			Q7RTW8	OTOAN_HUMAN	otoancorin	571					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACCACCAGAAGGCCTGAGGAG	0.527																																							uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1669-1671)AGG>ATG		otoancorin isoform 1							119.0	105.0	110.0					16																	21730494		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21730494G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1712G>T	16.37:g.21730494G>T	ENSP00000286149:p.Arg571Met					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R478M|OTOA_uc002dji.2_Missense_Mutation_p.R233M|OTOA_uc010vbk.1_Missense_Mutation_p.R205M	p.R557M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	15	1671	+			571					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1670G>T		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593978	0.66219	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.42	3.26	0.37387	.	0.382499	0.25540	N	0.029971	D	0.83533	0.5275	L	0.50333	1.59	0.26904	N	0.967043	D;D;P;D	0.56287	0.975;0.975;0.943;0.975	P;P;P;P	0.53401	0.641;0.725;0.451;0.641	T	0.74847	-0.3525	10	0.46703	T	0.11	-7.5318	5.1308	0.14909	0.2864:0.0:0.7136:0.0	.	571;478;233;557	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	M	557;571;478;233	ENSP00000373610:R557M;ENSP00000286149:R571M;ENSP00000373608:R478M;ENSP00000373609:R233M	ENSP00000286149:R571M	R	+	2	0	OTOA	21637995	0.206000	0.23470	0.804000	0.32291	0.632000	0.37999	0.798000	0.27014	1.292000	0.44672	0.655000	0.94253	AGG		0.527	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			16	47	1	0	1.37522e-17	0.007413	2.56874e-17	16	47				
POLR3E	55718	broad.mit.edu	37	16	22326444	22326444	+	Missense_Mutation	SNP	G	G	T	rs375432266		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:22326444G>T	ENST00000299853.5	+	9	724	c.557G>T	c.(556-558)cGc>cTc	p.R186L	POLR3E_ENST00000359210.4_Missense_Mutation_p.R186L|POLR3E_ENST00000418581.2_Missense_Mutation_p.R150L|POLR3E_ENST00000564209.1_Missense_Mutation_p.R186L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	186					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GAGCAGGCCCGCCAGCGCCGT	0.647																																							uc002dkk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(556-558)CGC>CTC		RNA polymerase III polypeptide E							48.0	42.0	44.0					16																	22326444		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22326444G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.557G>T	16.37:g.22326444G>T	ENSP00000299853:p.Arg186Leu					POLR3E_uc002dkj.1_Missense_Mutation_p.R186L|POLR3E_uc002dkm.2_Missense_Mutation_p.R150L|POLR3E_uc010vbr.1_Missense_Mutation_p.R186L|POLR3E_uc002dkl.2_Missense_Mutation_p.R186L|POLR3E_uc010vbs.1_Missense_Mutation_p.R150L|POLR3E_uc010vbt.1_Missense_Mutation_p.R130L	p.R186L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	9	713	+			186					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.557G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050321	0.93740	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.50277	0.75;0.75;0.75	5.47	5.47	0.80525	.	0.063091	0.64402	D	0.000003	T	0.60779	0.2295	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;P	0.55605	0.972;0.972;0.972;0.958;0.972;0.928	P;P;P;P;P;P	0.56960	0.81;0.81;0.81;0.561;0.81;0.561	T	0.64381	-0.6421	10	0.87932	D	0	-18.4961	12.6489	0.56749	0.0753:0.0:0.9247:0.0	.	130;150;186;186;186;186	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	L	186;186;150	ENSP00000299853:R186L;ENSP00000352140:R186L;ENSP00000399254:R150L	ENSP00000299853:R186L	R	+	2	0	POLR3E	22233945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.553000	0.86117	0.655000	0.94253	CGC		0.647	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		5	12	1	0	3.59834e-05	0.001168	4.57629e-05	5	12				
TAOK2	9344	broad.mit.edu	37	16	29997020	29997020	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:29997020C>T	ENST00000308893.4	+	15	2873	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	TAOK2_ENST00000416441.2_Silent_p.A437A|TAOK2_ENST00000543033.1_Silent_p.A610A|TAOK2_ENST00000279394.3_Silent_p.A610A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	610					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGAGAAGGCCGAGTGGCTGC	0.682																																							uc002dva.1		NA																	0				ovary(1)	1						c.(1828-1830)GCC>GCT		TAO kinase 2 isoform 2							13.0	14.0	13.0					16																	29997020		2193	4291	6484	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997020C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1830C>T	16.37:g.29997020C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.A610A|TAOK2_uc002dvc.1_Silent_p.A610A|TAOK2_uc010bzm.1_Silent_p.A617A|TAOK2_uc002dvd.1_Silent_p.A437A	p.A610A	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			15	2613	+			610					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1830C>T	CCDS10663.1																																																																																				0.682	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		3	13	0	0	0	0.000248	0	3	13				
SEPT1	1731	broad.mit.edu	37	16	30389945	30389945	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:30389945C>G	ENST00000571393.1	-	11	1189	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	SEPT1_ENST00000321367.3_Missense_Mutation_p.E382Q|SEPT1_ENST00000605106.1_Missense_Mutation_p.E340Q			Q8WYJ6	SEPT1_HUMAN	septin 1	335					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCGTCTTTCTCGCGGATCAGC	0.657																																							uc002dxy.2		NA																	0				ovary(1)	1						c.(1003-1005)GAG>CAG		septin 1							40.0	38.0	39.0					16																	30389945		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30389945C>G	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.1003G>C	16.37:g.30389945C>G	ENSP00000460441:p.Glu335Gln					SEPT1_uc002dxw.2_RNA|SEPT1_uc002dxx.2_Missense_Mutation_p.E160Q	p.E335Q	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		11	1190	-			335					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.1003G>C		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818328	0.71028	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.92	5.92	0.95590	.	0.087727	0.49305	D	0.000149	T	0.53706	0.1813	L	0.28344	0.845	0.43683	D	0.996125	P	0.43788	0.817	P	0.47162	0.54	T	0.41251	-0.9519	9	0.19147	T	0.46	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	335	Q8WYJ6	SEPT1_HUMAN	Q	335	.	ENSP00000324511:E335Q	E	-	1	0	SEPT1	30297446	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	2.618000	0.46393	2.817000	0.96982	0.549000	0.68633	GAG		0.657	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		4	17	0	0	0	0.000602	0	4	17				
ITGAM	3684	broad.mit.edu	37	16	31339510	31339510	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:31339510G>T	ENST00000287497.8	+	23	2826	c.2751G>T	c.(2749-2751)ctG>ctT	p.L917L	ITGAM_ENST00000544665.3_Silent_p.L918L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	917					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AATTCCAACTGGAGCTGCCGG	0.517																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(2749-2751)CTG>CTT		integrin alpha M isoform 2 precursor							118.0	118.0	118.0					16																	31339510		2026	4189	6215	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31339510G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2751G>T	16.37:g.31339510G>T						ITGAM_uc002ebr.2_Silent_p.L918L|ITGAM_uc010can.2_Silent_p.L323L	p.L917L	NM_000632	NP_000623	P11215	ITAM_HUMAN			23	2849	+			917			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.2751G>T	CCDS45470.1																																																																																				0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		25	61	1	0	8.24728e-16	0.004656	1.49073e-15	25	61				
ITGAX	3687	broad.mit.edu	37	16	31391338	31391338	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:31391338A>T	ENST00000268296.4	+	26	3133	c.3012A>T	c.(3010-3012)gcA>gcT	p.A1004A	ITGAX_ENST00000562522.1_Silent_p.A1004A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1004					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGAAAATCGCACCCCCAGCAT	0.577																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3010-3012)GCA>GCT		integrin alpha X precursor							52.0	52.0	52.0					16																	31391338		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391338A>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3012A>T	16.37:g.31391338A>T						ITGAX_uc002ebt.2_Silent_p.A1004A	p.A1004A	NM_000887	NP_000878	P20702	ITAX_HUMAN			26	3079	+			1004			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.3012A>T	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	37	0	0	0	0.000602	0	4	37				
C16orf78	123970	broad.mit.edu	37	16	49433132	49433132	+	Silent	SNP	C	C	A	rs547969905		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:49433132C>A	ENST00000299191.3	+	5	858	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	247						nucleus (GO:0005634)		p.V247V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCCACATGGTCGAAGAGGACA	0.498																																							uc002efr.2		NA																	1	Substitution - coding silent(1)		cervix(1)	central_nervous_system(1)	1						c.(739-741)GTC>GTA		hypothetical protein LOC123970							145.0	118.0	127.0					16																	49433132		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49433132C>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.741C>A	16.37:g.49433132C>A							p.V247V	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			5	784	+			247						Silent	SNP	ENST00000299191.3	37	c.741C>A	CCDS10738.1																																																																																				0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		12	38	1	0	2.27111e-07	0.001368	3.25171e-07	12	38				
RBL2	5934	broad.mit.edu	37	16	53501044	53501044	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:53501044G>T	ENST00000262133.6	+	14	2075	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	646	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGAAGGGTGACTGAAGTTC	0.418																																							uc002ehi.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1936-1938)GTG>GTT		retinoblastoma-like 2 (p130)							141.0	142.0	141.0					16																	53501044		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53501044G>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1938G>T	16.37:g.53501044G>T						RBL2_uc010vgv.1_Silent_p.V572V|RBL2_uc002ehj.2_Silent_p.V356V|RBL2_uc010vgw.1_Intron	p.V646V	NM_005611	NP_005602	Q08999	RBL2_HUMAN			14	2056	+			646			Spacer.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.1938G>T	CCDS10748.1																																																																																				0.418	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		9	100	1	0	2.17888e-05	0.006214	2.81911e-05	9	100				
GPR56	9289	broad.mit.edu	37	16	57689862	57689862	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:57689862C>G	ENST00000388812.4	+	7	1415	c.975C>G	c.(973-975)ctC>ctG	p.L325L	GPR56_ENST00000568908.1_Silent_p.L325L|GPR56_ENST00000538815.1_Silent_p.L325L|GPR56_ENST00000379694.4_Silent_p.L155L|GPR56_ENST00000379696.3_Silent_p.L325L|GPR56_ENST00000562631.1_Silent_p.L325L|GPR56_ENST00000567835.1_Silent_p.L325L|GPR56_ENST00000540164.2_Silent_p.L325L|GPR56_ENST00000562558.1_Silent_p.L325L|GPR56_ENST00000568909.1_Silent_p.L325L|GPR56_ENST00000456916.1_Silent_p.L325L|GPR56_ENST00000544297.1_Silent_p.L150L|GPR56_ENST00000388813.5_Silent_p.L325L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	325					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TAGCCAACCTCACGGAGCCCG	0.567																																							uc002emb.2		NA																	0					0						c.(973-975)CTC>CTG		G protein-coupled receptor 56 isoform a							112.0	108.0	109.0					16																	57689862		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689862C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.975C>G	16.37:g.57689862C>G						GPR56_uc002elz.1_Silent_p.L155L|GPR56_uc002ema.1_Silent_p.L150L|GPR56_uc002emc.2_Silent_p.L325L|GPR56_uc002emf.2_Silent_p.L325L|GPR56_uc010vhs.1_Silent_p.L325L|GPR56_uc002emd.2_Silent_p.L325L|GPR56_uc002eme.2_Silent_p.L325L|GPR56_uc010vht.1_Silent_p.L330L|GPR56_uc002emg.3_Silent_p.L325L|GPR56_uc010vhu.1_Silent_p.L150L	p.L325L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			8	1267	+			325			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.975C>G	CCDS32460.1																																																																																				0.567	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			4	108	0	0	0	0.000248	0	4	108				
MMP15	4324	broad.mit.edu	37	16	58073844	58073844	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:58073844G>A	ENST00000219271.3	+	4	1291	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	169					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R169H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	AGGGCCTTCCGCGTGTGGGAG	0.637																																							uc002ena.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|breast(1)	3						c.(505-507)CGC>CAC		matrix metalloproteinase 15 preproprotein							50.0	47.0	48.0					16																	58073844		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58073844G>A	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.506G>A	16.37:g.58073844G>A	ENSP00000219271:p.Arg169His						p.R169H	NM_002428	NP_002419	P51511	MMP15_HUMAN			4	1479	+			169			Extracellular (Potential).		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.506G>A	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614122	0.46631	.	.	ENSG00000102996	ENST00000219271	T	0.23147	1.92	4.94	1.22	0.21188	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.473476	0.23896	N	0.043486	T	0.23572	0.0570	M	0.64567	1.98	0.30614	N	0.759156	B	0.13145	0.007	B	0.06405	0.002	T	0.13361	-1.0512	10	0.59425	D	0.04	.	7.7957	0.29146	0.3996:0.0:0.6004:0.0	.	169	P51511	MMP15_HUMAN	H	169	ENSP00000219271:R169H	ENSP00000219271:R169H	R	+	2	0	MMP15	56631345	0.148000	0.22702	0.233000	0.24025	0.995000	0.86356	0.933000	0.28897	-0.007000	0.14345	0.455000	0.32223	CGC		0.637	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		10	20	0	0	0	0.008291	0	10	20				
FHOD1	29109	broad.mit.edu	37	16	67264340	67264340	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:67264340G>C	ENST00000258201.4	-	19	3175	c.2928C>G	c.(2926-2928)ttC>ttG	p.F976L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	976	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGTGTGGCAGAACTGCATGA	0.592																																							uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(2926-2928)TTC>TTG		formin homology 2 domain containing 1							98.0	92.0	94.0					16																	67264340		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264340G>C	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2928C>G	16.37:g.67264340G>C	ENSP00000258201:p.Phe976Leu					FHOD1_uc002esk.2_Missense_Mutation_p.F35L|FHOD1_uc010ced.2_Missense_Mutation_p.F783L	p.F976L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3040	-		Ovarian(137;0.0563)	976			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2928C>G	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256204	0.59321	.	.	ENSG00000135723	ENST00000258201	T	0.22539	1.95	5.76	2.69	0.31865	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.047822	0.85682	D	0.000000	T	0.33030	0.0849	M	0.80183	2.485	0.80722	D	1	B	0.33379	0.41	B	0.44224	0.444	T	0.05321	-1.0892	10	0.52906	T	0.07	.	8.0622	0.30640	0.1454:0.1316:0.7231:0.0	.	976	Q9Y613	FHOD1_HUMAN	L	976	ENSP00000258201:F976L	ENSP00000258201:F976L	F	-	3	2	FHOD1	65821841	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.713000	0.61895	0.345000	0.23873	0.561000	0.74099	TTC		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			6	51	0	0	0	0.001168	0	6	51				
NFATC3	4775	broad.mit.edu	37	16	68156673	68156673	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:68156673C>T	ENST00000346183.3	+	2	911	c.887C>T	c.(886-888)tCa>tTa	p.S296L	NFATC3_ENST00000575270.1_Missense_Mutation_p.S296L|NFATC3_ENST00000535127.2_3'UTR|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000349223.5_Missense_Mutation_p.S296L|NFATC3_ENST00000329524.4_Missense_Mutation_p.S296L	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	296	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTGTTCCTTCACCTGGTCAC	0.557																																							uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(886-888)TCA>TTA		nuclear factor of activated T-cells,							111.0	99.0	103.0					16																	68156673		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156673C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.887C>T	16.37:g.68156673C>T	ENSP00000300659:p.Ser296Leu					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S296L|NFATC3_uc002evm.1_Missense_Mutation_p.S296L|NFATC3_uc002evn.1_Missense_Mutation_p.S296L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.S296L	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	1097	+		Ovarian(137;0.0563)	296			3 X SP repeats.|3.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.887C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774162	0.90108	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.15834	2.39;2.39;2.4	5.39	5.39	0.77823	.	0.050187	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.64830	0.994;0.982;0.994;0.994	D;P;D;D	0.74348	0.983;0.703;0.983;0.983	T	0.20739	-1.0266	9	.	.	.	-15.8996	19.5178	0.95171	0.0:1.0:0.0:0.0	.	296;296;296;296	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	L	296	ENSP00000264008:S296L;ENSP00000300659:S296L;ENSP00000331324:S296L	.	S	+	2	0	NFATC3	66714174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.963000	0.70372	2.683000	0.91414	0.563000	0.77884	TCA		0.557	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		24	43	0	0	0	0.005443	0	24	43				
PDPR	55066	broad.mit.edu	37	16	70170214	70170214	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:70170214C>T	ENST00000288050.4	+	10	2072	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	PDPR_ENST00000568530.1_Missense_Mutation_p.S372F|PDPR_ENST00000398122.3_Missense_Mutation_p.S272F|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	372					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATGGGCGAGTCTCCTGCAGTG	0.512																																							uc002eyf.1		NA																	0				breast(1)	1						c.(1114-1116)TCT>TTT		pyruvate dehydrogenase phosphatase regulatory							77.0	80.0	79.0					16																	70170214		1973	4175	6148	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70170214C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1115C>T	16.37:g.70170214C>T	ENSP00000288050:p.Ser372Phe					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.S272F|PDPR_uc002eyg.1_Missense_Mutation_p.S100F	p.S372F	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	10	2072	+			372					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1115C>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642623	0.47153	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.81996	-1.56;-1.56	4.42	4.42	0.53409	FAD dependent oxidoreductase (1);	0.179987	0.47455	D	0.000223	T	0.79793	0.4507	L	0.59436	1.845	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.17979	0.017;0.02	T	0.78165	-0.2310	10	0.59425	D	0.04	.	11.9828	0.53129	0.0:0.8249:0.1751:0.0	.	100;372	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	F	372;272;100	ENSP00000288050:S372F;ENSP00000381190:S272F	ENSP00000205055:S100F	S	+	2	0	PDPR	68727715	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	4.815000	0.62634	1.985000	0.57927	0.455000	0.32223	TCT		0.512	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		5	39	0	0	0	0.001984	0	5	39				
WDR59	79726	broad.mit.edu	37	16	74927676	74927676	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:74927676G>C	ENST00000262144.6	-	19	2031	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	634										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCCAGAGTCTGATCCCTCACG	0.478																																							uc002fdh.1		NA																	0				ovary(1)|breast(1)	2						c.(1900-1902)TCA>TGA		WD repeat domain 59							226.0	190.0	202.0					16																	74927676		2198	4300	6498	SO:0001587	stop_gained	79726							g.chr16:74927676G>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1901C>G	16.37:g.74927676G>C	ENSP00000262144:p.Ser634*					WDR59_uc002fdf.1_Nonsense_Mutation_p.S79*|WDR59_uc002fdg.1_Nonsense_Mutation_p.S226*	p.S634*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			19	2003	-			634					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Nonsense_Mutation	SNP	ENST00000262144.6	37	c.1901C>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	38	6.883446	0.97908	.	.	ENSG00000103091	ENST00000262144	.	.	.	5.93	2.92	0.33932	.	0.451951	0.22652	N	0.057319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.3676	7.2046	0.25899	0.1964:0.121:0.6826:0.0	.	.	.	.	X	634	.	ENSP00000262144:S634X	S	-	2	0	WDR59	73485177	0.480000	0.25933	0.171000	0.22900	0.887000	0.51463	2.043000	0.41231	0.408000	0.25621	0.655000	0.94253	TCA		0.478	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		3	74	0	0	0	0.000248	0	3	74				
CHST5	23563	broad.mit.edu	37	16	75563281	75563281	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:75563281G>A	ENST00000336257.3	-	3	2396	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.I340I	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	334					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGGCTTGCCGATCCCCGACC	0.642																																							uc002fei.2		NA																	0					0						c.(1000-1002)ATC>ATT		carbohydrate (N-acetylglucosamine 6-O)							85.0	72.0	76.0					16																	75563281		2198	4297	6495	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563281G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1002C>T	16.37:g.75563281G>A						CHST5_uc002fej.1_Silent_p.I340I	p.I334I	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2397	-			334			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.1002C>T	CCDS10919.1																																																																																				0.642	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		15	50	0	0	0	0.003163	0	15	50				
SMG6	23293	broad.mit.edu	37	17	2203274	2203274	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:2203274C>A	ENST00000263073.6	-	2	823	c.773G>T	c.(772-774)aGc>aTc	p.S258I	SMG6_ENST00000544865.1_Missense_Mutation_p.S227I	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	258	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAGCTGGTGCTGCGCGTGCG	0.657																																					Melanoma(59;28 1088 11621 25887 46638 50814)	Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1		NA																	0				central_nervous_system(2)|lung(1)|kidney(1)	4						c.(772-774)AGC>ATC		Smg-6 homolog, nonsense mediated mRNA decay							63.0	61.0	61.0					17																	2203274		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203274C>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.773G>T	17.37:g.2203274C>A	ENSP00000263073:p.Ser258Ile					SMG6_uc002fud.1_Missense_Mutation_p.S227I	p.S258I	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	828	-			258			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.773G>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512566	0.64522	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.19105	2.18;2.17	5.35	5.35	0.76521	.	0.185375	0.56097	D	0.000036	T	0.37705	0.1013	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.19943	-1.0290	10	0.72032	D	0.01	-6.1096	19.0567	0.93069	0.0:1.0:0.0:0.0	.	258	Q86US8	EST1A_HUMAN	I	258;227	ENSP00000263073:S258I;ENSP00000443920:S227I	ENSP00000263073:S258I	S	-	2	0	SMG6	2150024	1.000000	0.71417	0.991000	0.47740	0.493000	0.33554	7.173000	0.77612	2.490000	0.84030	0.655000	0.94253	AGC		0.657	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			14	28	1	0	9.05144e-12	0.001855	1.51572e-11	14	28				
OR1E1	8387	broad.mit.edu	37	17	3300867	3300867	+	Missense_Mutation	SNP	C	C	T	rs144219652		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:3300867C>T	ENST00000322608.2	-	1	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	280					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)			endometrium(3)|large_intestine(2)|lung(5)	10						GGGGTCACCACAGTGTACATC	0.458																																							uc002fvj.1		NA																	0					0						c.(838-840)GTG>ATG		olfactory receptor, family 1, subfamily E,							102.0	95.0	97.0					17																	3300867		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3300867C>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.838G>A	17.37:g.3300867C>T	ENSP00000313384:p.Val280Met						p.V280M	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	838	-			280			Helical; Name=7; (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.838G>A	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038450	0.55003	.	.	ENSG00000180016	ENST00000322608	T	0.00307	8.17	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00440	0.0014	M	0.77313	2.365	0.40204	D	0.977541	P	0.40681	0.727	P	0.46452	0.517	T	0.80625	-0.1299	10	0.56958	D	0.05	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	280	P30953	OR1E1_HUMAN	M	280	ENSP00000313384:V280M	ENSP00000313384:V280M	V	-	1	0	OR1E1	3247617	0.000000	0.05858	1.000000	0.80357	0.933000	0.57130	-0.281000	0.08456	2.449000	0.82847	0.591000	0.81541	GTG		0.458	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		18	58	0	0	0	0.007413	0	18	58				
P2RX1	5023	broad.mit.edu	37	17	3819461	3819461	+	Missense_Mutation	SNP	C	C	G	rs377348733|rs35715771		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:3819461C>G	ENST00000225538.3	-	1	333	c.59G>C	c.(58-60)cGc>cCc	p.R20P		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652																																							uc002fww.2		NA																	0				ovary(1)|skin(1)	2						c.(58-60)CGC>CCC		purinergic receptor P2X1							103.0	99.0	100.0					17																	3819461		2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3819461C>G	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.59G>C	17.37:g.3819461C>G	ENSP00000225538:p.Arg20Pro					P2RX1_uc010ckm.1_5'UTR	p.R20P	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	1	500	-			20			Cytoplasmic (Potential).		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.59G>C	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824745	0.71143	.	.	ENSG00000108405	ENST00000225538	T	0.05513	3.43	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.77313	2.365	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.02226	-1.1192	10	0.87932	D	0	-9.2345	16.5811	0.84715	0.0:1.0:0.0:0.0	.	20	P51575	P2RX1_HUMAN	P	20	ENSP00000225538:R20P	ENSP00000225538:R20P	R	-	2	0	P2RX1	3766210	1.000000	0.71417	0.944000	0.38274	0.237000	0.25408	6.832000	0.75329	2.323000	0.78572	0.491000	0.48974	CGC		0.652	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		38	70	0	0	0	0.007835	0	38	70				
C1QBP	708	broad.mit.edu	37	17	5335888	5335888	+	IGR	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:5335888C>G	ENST00000225698.4	-	0	1169				CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_3'UTR|RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381208.5_Silent_p.L172L|RPAIN_ENST00000381209.3_Silent_p.L219L	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTGTGATCCTCTAGAGCCAGC	0.368																																							uc002gbq.2		NA																	0					0						c.(655-657)CTC>CTG		RPA interacting protein isoform b							141.0	135.0	137.0					17																	5335888		2203	4300	6503	SO:0001628	intergenic_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5335888C>G	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5335888C>G						RPAIN_uc010vtb.1_3'UTR|RPAIN_uc002gbs.2_Silent_p.L235L|RPAIN_uc002gbt.2_Silent_p.L172L|RPAIN_uc002gbu.2_Silent_p.L188L|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_3'UTR	p.L219L	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			7	1227	+			219					Q2HXR8|Q9NNY8	Silent	SNP	ENST00000225698.4	37	c.657C>G	CCDS11071.1																																																																																				0.368	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		4	58	0	0	0	0.000248	0	4	58				
AIPL1	23746	broad.mit.edu	37	17	6330023	6330023	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:6330023C>A	ENST00000381129.3	-	5	776	c.696G>T	c.(694-696)ctG>ctT	p.L232L	AIPL1_ENST00000250087.5_Silent_p.L169L|AIPL1_ENST00000576307.1_Silent_p.L172L|AIPL1_ENST00000575265.1_Silent_p.L232L|AIPL1_ENST00000571740.1_Silent_p.L224L|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000574506.1_Silent_p.L220L|AIPL1_ENST00000570466.1_Silent_p.L210L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	232					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTTGAGGATCAGAGTATTGA	0.582																																							uc002gcp.2		NA																	0					0						c.(694-696)CTG>CTT		aryl hydrocarbon receptor interacting							123.0	86.0	98.0					17																	6330023		2203	4300	6503	SO:0001819	synonymous_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6330023C>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.696G>T	17.37:g.6330023C>A						AIPL1_uc002gcq.2_Silent_p.L172L|AIPL1_uc002gcr.2_Silent_p.L169L|AIPL1_uc010clk.2_Silent_p.L210L|AIPL1_uc010cll.2_Intron|AIPL1_uc002gcs.2_Silent_p.L232L	p.L232L	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	5	791	-			232			TPR 2.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	c.696G>T	CCDS11075.1																																																																																				0.582	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		10	20	1	0	3.86212e-05	0.008291	4.87942e-05	10	20				
PITPNM3	83394	broad.mit.edu	37	17	6358908	6358908	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:6358908G>A	ENST00000262483.8	-	20	2762	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.S856L	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	892					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTTTGGGCGTGAGCGGTGGCT	0.692																																							uc002gdd.3		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2674-2676)TCA>TTA		PITPNM family member 3 isoform 1							24.0	27.0	26.0					17																	6358908		2193	4293	6486	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6358908G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2675C>T	17.37:g.6358908G>A	ENSP00000262483:p.Ser892Leu					PITPNM3_uc010cln.2_Missense_Mutation_p.S856L|PITPNM3_uc010clm.2_Missense_Mutation_p.S375L|PITPNM3_uc002gdc.3_Missense_Mutation_p.S483L	p.S892L	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	20	2826	-			892					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2675C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.698155	0.88830	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.47528	0.84;0.85	4.51	4.51	0.55191	.	0.206045	0.42053	D	0.000776	T	0.49779	0.1577	M	0.62266	1.93	0.43342	D	0.995398	B;B	0.28998	0.23;0.191	B;B	0.33890	0.172;0.073	T	0.56498	-0.7969	10	0.72032	D	0.01	.	15.1526	0.72713	0.0:0.0:1.0:0.0	.	856;892	F8WEW5;Q9BZ71	.;PITM3_HUMAN	L	892;856	ENSP00000262483:S892L;ENSP00000407882:S856L	ENSP00000262483:S892L	S	-	2	0	PITPNM3	6299632	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.772000	0.98984	2.250000	0.74265	0.500000	0.49745	TCA		0.692	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		6	27	0	0	0	0.001168	0	6	27				
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:7577507T>A	ENST00000269305.4	-	7	963	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000413465.2_Missense_Mutation_p.E258D|TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000420246.2_Missense_Mutation_p.E258D	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	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(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)	ACCTGGAGTCTTCCAGTGTGA	0.577		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)	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		25	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(2)|Insertion - Frameshift(1)|Unknown(1)	p.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(1)	large_intestine(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|stomach(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(772-774)GAA>GAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	96.0	110.0					17																	7577507		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7577507T>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.774A>T	17.37:g.7577507T>A	ENSP00000269305:p.Glu258Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.E258D|TP53_uc002gih.2_Missense_Mutation_p.E258D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126D|TP53_uc010cng.1_Missense_Mutation_p.E126D|TP53_uc002gii.1_Missense_Mutation_p.E126D|TP53_uc010cnh.1_Missense_Mutation_p.E258D|TP53_uc010cni.1_Missense_Mutation_p.E258D|TP53_uc002gij.2_Missense_Mutation_p.E258D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165D|TP53_uc002gio.2_Missense_Mutation_p.E126D	p.E258D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	258		E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.774A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123100	0.56613	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92367	3.3	0.53005	D	0.999966	D;D;D;D;D	0.89917	0.963;0.996;0.97;0.97;1.0	P;D;D;P;D	0.85130	0.826;0.99;0.924;0.891;0.997	D	0.96709	0.9524	10	0.87932	D	0	-21.9865	10.6082	0.45406	0.0:0.0:0.0:1.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	D	258;258;258;258;258;258;247;126	ENSP00000410739:E258D;ENSP00000352610:E258D;ENSP00000269305:E258D;ENSP00000398846:E258D;ENSP00000391127:E258D;ENSP00000391478:E258D;ENSP00000425104:E126D	ENSP00000269305:E258D	E	-	3	2	TP53	7518232	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	0.718000	0.25866	2.074000	0.62210	0.379000	0.24179	GAA		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	21	0	0	0	0.006122	0	18	21				
PER1	5187	broad.mit.edu	37	17	8050243	8050243	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:8050243G>A	ENST00000317276.4	-	14	1944	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.A549A|PER1_ENST00000354903.5_Silent_p.A553A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	569					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACTGAGGCCGGGCCCGAGACT	0.587			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1705-1707)GCC>GCT	Other_conserved_DNA_damage_response_genes	period 1							55.0	69.0	64.0					17																	8050243		2203	4299	6502	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8050243G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1707C>T	17.37:g.8050243G>A						PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.A553A	p.A569A	NM_002616	NP_002607	O15534	PER1_HUMAN			14	1945	-			569					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.1707C>T	CCDS11131.1																																																																																				0.587	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			52	95	0	0	0	0.00361	0	52	95				
MYH13	8735	broad.mit.edu	37	17	10265707	10265707	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:10265707G>A	ENST00000418404.3	-	3	481	c.318C>T	c.(316-318)ctC>ctT	p.L106L	MYH13_ENST00000252172.4_Silent_p.L106L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	106	Myosin motor.				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)			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						AGCGCTCTTTGAGGTTGTACA	0.443																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(316-318)CTC>CTT		myosin, heavy polypeptide 13, skeletal muscle							267.0	245.0	252.0					17																	10265707		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265707G>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.318C>T	17.37:g.10265707G>A							p.L106L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			4	408	-			106			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.318C>T	CCDS45613.1																																																																																				0.443	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		10	120	0	0	0	0.000978	0	10	120				
MYH1	4619	broad.mit.edu	37	17	10419569	10419569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:10419569C>A	ENST00000226207.5	-	4	389	c.295G>T	c.(295-297)Gag>Tag	p.E99*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	99	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACAGCAGGCTCGTGTAGATGA	0.473																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(295-297)GAG>TAG		myosin, heavy chain 1, skeletal muscle, adult							268.0	237.0	248.0					17																	10419569		2203	4300	6503	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419569C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.295G>T	17.37:g.10419569C>A	ENSP00000226207:p.Glu99*					uc002gml.1_Intron	p.E99*	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	389	-			99			Myosin head-like.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.295G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344200	0.82022	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.39	5.39	0.77823	.	0.000000	0.43579	U	0.000545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3405	0.94339	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	ENSP00000226207:E99X	E	-	1	0	MYH1	10360294	1.000000	0.71417	0.990000	0.47175	0.218000	0.24690	7.641000	0.83368	2.791000	0.96007	0.655000	0.94253	GAG		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		41	103	1	0	3.09479e-21	0.006999	6.00621e-21	41	103				
FAM222B	55731	broad.mit.edu	37	17	27085330	27085330	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:27085330T>A	ENST00000341217.5	-	3	1862	c.1647A>T	c.(1645-1647)acA>acT	p.T549T	FAM222B_ENST00000452648.3_Silent_p.T549T|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.T549T	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	549																	TTCGACTCTCTGTGGGATCGG	0.567																																							uc002hct.1		NA																	0				ovary(1)	1						c.(1645-1647)ACA>ACT		hypothetical protein LOC55731							45.0	50.0	48.0					17																	27085330		1953	4142	6095	SO:0001819	synonymous_variant	55731							g.chr17:27085330T>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1647A>T	17.37:g.27085330T>A						C17orf63_uc010wax.1_Silent_p.T549T|C17orf63_uc010way.1_Silent_p.T549T|C17orf63_uc002hcw.2_Silent_p.T421T	p.T549T	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		3	1914	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		549					Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.1647A>T	CCDS45637.1																																																																																				0.567	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		11	31	0	0	0	0.001368	0	11	31				
RAB11FIP4	84440	broad.mit.edu	37	17	29850980	29850980	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:29850980A>C	ENST00000325874.8	+	9	1328	c.1099A>C	c.(1099-1101)Aag>Cag	p.K367Q	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.K265Q	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	367	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCTGAAGAGCAAGCTGAAGCA	0.612																																							uc002hgn.1		NA																	0				skin(1)	1						c.(1099-1101)AAG>CAG		RAB11 family interacting protein 4 (class II)							56.0	47.0	50.0					17																	29850980		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850980A>C	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1099A>C	17.37:g.29850980A>C	ENSP00000312837:p.Lys367Gln					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.K265Q	p.K367Q	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			9	1328	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	367			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1099A>C	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186198	0.57909	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.16743	2.32	5.58	5.58	0.84498	.	0.050981	0.85682	D	0.000000	T	0.33731	0.0873	M	0.67953	2.075	0.58432	D	0.999999	D;P	0.56287	0.975;0.844	P;B	0.56700	0.804;0.432	T	0.03112	-1.1071	9	.	.	.	-55.126	13.7059	0.62639	1.0:0.0:0.0:0.0	.	265;367	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	Q	367	ENSP00000312837:K367Q	.	K	+	1	0	RAB11FIP4	26875100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.033000	0.76504	2.133000	0.65898	0.402000	0.26972	AAG		0.612	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		6	21	0	0	0	0.001168	0	6	21				
UNC45B	146862	broad.mit.edu	37	17	33501326	33501326	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:33501326G>T	ENST00000268876.5	+	14	1999	c.1902G>T	c.(1900-1902)ctG>ctT	p.L634L	UNC45B_ENST00000433649.1_Silent_p.L632L|UNC45B_ENST00000378449.1_Silent_p.L553L|UNC45B_ENST00000394570.2_Silent_p.L632L|UNC45B_ENST00000591048.1_Silent_p.L553L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	634					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCTCTGCCCTGGCTTGCATGG	0.567																																							uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1900-1902)CTG>CTT		cardiomyopathy associated 4 isoform 1							117.0	111.0	113.0					17																	33501326		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501326G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1902G>T	17.37:g.33501326G>T						UNC45B_uc002hjb.2_Silent_p.L632L|UNC45B_uc002hjc.2_Silent_p.L632L|UNC45B_uc010cto.2_Silent_p.L553L	p.L634L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			14	1999	+		Ovarian(249;0.17)	634					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1902G>T	CCDS11292.1																																																																																				0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		33	97	1	0	3.11337e-16	0.002836	5.71211e-16	33	97				
AATF	26574	broad.mit.edu	37	17	35310239	35310239	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:35310239G>T	ENST00000225402.5	+	3	588	c.337G>T	c.(337-339)Ggt>Tgt	p.G113C		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	113	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AGAGGGACTGGGTCTGGAGGA	0.483																																					NSCLC(49;901 1159 19183 41572 46244)	NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2		NA																	0					0						c.(337-339)GGT>TGT		apoptosis antagonizing transcription factor							103.0	103.0	103.0					17																	35310239		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35310239G>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.337G>T	17.37:g.35310239G>T	ENSP00000225402:p.Gly113Cys					AATF_uc002hnj.2_RNA	p.G113C	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			3	588	+		Breast(25;0.00607)	113			Glu-rich.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.337G>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762341	0.31228	.	.	ENSG00000108270	ENST00000225402	T	0.39229	1.09	5.47	2.36	0.29203	.	0.952633	0.08843	N	0.885622	T	0.39784	0.1091	L	0.56769	1.78	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35992	-0.9766	10	0.54805	T	0.06	0.1694	8.1402	0.31078	0.0728:0.0:0.6461:0.2811	.	113	Q9NY61	AATF_HUMAN	C	113	ENSP00000225402:G113C	ENSP00000225402:G113C	G	+	1	0	AATF	32384352	0.794000	0.28838	0.001000	0.08648	0.064000	0.16182	2.546000	0.45778	0.363000	0.24346	-0.169000	0.13324	GGT		0.483	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		16	66	1	0	0.000422831	0.004007	0.000509294	16	66				
MRPL45	84311	broad.mit.edu	37	17	36478458	36478458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:36478458C>T	ENST00000312513.5	+	8	1062	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	GPR179_ENST00000584976.1_5'Flank	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	301						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGAGAGGCCCAGAAGCCTCA	0.527											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hpy.2		NA																	0					0						c.(901-903)CAG>TAG		mitochondrial ribosomal protein L45 precursor							69.0	69.0	69.0					17																	36478458		2203	4300	6503	SO:0001587	stop_gained	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36478458C>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.901C>T	17.37:g.36478458C>T	ENSP00000308901:p.Gln301*		OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.Q301*	NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN			8	1053	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	301					A1L436|Q6ZMJ5	Nonsense_Mutation	SNP	ENST00000312513.5	37	c.901C>T	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977120	0.34848	.	.	ENSG00000174100	ENST00000312513	.	.	.	5.47	3.36	0.38483	.	0.695027	0.14777	N	0.298991	.	.	.	.	.	.	0.42859	D	0.994103	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	0.0122	12.2414	0.54544	0.3302:0.6698:0.0:0.0	.	.	.	.	X	301	.	ENSP00000308901:Q301X	Q	+	1	0	MRPL45	33731985	0.000000	0.05858	0.625000	0.29200	0.189000	0.23516	0.911000	0.28584	0.765000	0.33221	0.632000	0.83419	CAG		0.527	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		11	29	0	0	0	0.000978	0	11	29				
FBXL20	84961	broad.mit.edu	37	17	37453402	37453402	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:37453402C>A	ENST00000264658.6	-	6	636	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W	FBXL20_ENST00000394294.3_Missense_Mutation_p.G126W|AC005288.1_ENST00000584584.1_RNA|FBXL20_ENST00000583610.1_Missense_Mutation_p.G126W|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	126					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTTGTACACCCATTTAGATTC	0.368																																							uc010wed.1		NA																	0				ovary(1)	1						c.(376-378)GGG>TGG		F-box and leucine-rich repeat protein 20							126.0	112.0	117.0					17																	37453402		2202	4299	6501	SO:0001583	missense	84961					cytoplasm		g.chr17:37453402C>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.376G>T	17.37:g.37453402C>A	ENSP00000264658:p.Gly126Trp					FBXL20_uc002hrt.2_Missense_Mutation_p.G126W|FBXL20_uc010cvu.2_Missense_Mutation_p.G126W	p.G126W	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		6	597	-			126			LRR 2.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.376G>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869152	0.72065	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.55930	4.31;0.49	5.34	5.34	0.76211	.	0.099149	0.64402	D	0.000002	T	0.73877	0.3643	M	0.78344	2.41	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.79108	0.992;0.966	T	0.77019	-0.2743	10	0.87932	D	0	.	17.5917	0.87998	0.0:1.0:0.0:0.0	.	126;126	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	W	126	ENSP00000264658:G126W;ENSP00000377832:G126W	ENSP00000264658:G126W	G	-	1	0	FBXL20	34706928	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.255000	0.78338	2.651000	0.90000	0.585000	0.79938	GGG		0.368	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		7	48	1	0	0.000274275	0.004482	0.000331549	7	48				
KRT20	54474	broad.mit.edu	37	17	39036369	39036369	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:39036369C>G	ENST00000167588.3	-	4	816	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	259	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCAAACTGTTCTTTGGCCTCT	0.438																																							uc002hvl.2		NA																	0				large_intestine(1)|kidney(1)|skin(1)	3						c.(775-777)GAA>CAA		keratin 20							211.0	188.0	195.0					17																	39036369		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39036369C>G	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.775G>C	17.37:g.39036369C>G	ENSP00000167588:p.Glu259Gln						p.E259Q	NM_019010	NP_061883	P35900	K1C20_HUMAN			4	817	-		Breast(137;0.000301)|Ovarian(249;0.15)	259			Rod.|Coil 2.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.775G>C	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152688	0.57259	.	.	ENSG00000171431	ENST00000167588	D	0.89681	-2.55	5.29	5.29	0.74685	Filament (1);	0.190424	0.36167	N	0.002750	D	0.88976	0.6584	L	0.53249	1.67	0.37855	D	0.929517	P	0.43788	0.817	P	0.45998	0.5	D	0.87955	0.2726	10	0.22109	T	0.4	.	18.9237	0.92536	0.0:1.0:0.0:0.0	.	259	P35900	K1C20_HUMAN	Q	259	ENSP00000167588:E259Q	ENSP00000167588:E259Q	E	-	1	0	KRT20	36289895	0.037000	0.19845	0.998000	0.56505	0.916000	0.54674	2.916000	0.48813	2.469000	0.83416	0.491000	0.48974	GAA		0.438	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			4	112	0	0	0	0.000248	0	4	112				
KRT36	8689	broad.mit.edu	37	17	39645944	39645944	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:39645944C>G	ENST00000328119.6	-	1	172	c.173G>C	c.(172-174)gGc>gCc	p.G58A	KRT36_ENST00000393986.2_Missense_Mutation_p.G8A	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	58	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCTCCCAAGGCCAGAGAGGCC	0.637																																							uc002hwt.2		NA																	0					0						c.(172-174)GGC>GCC		keratin 36							66.0	72.0	70.0					17																	39645944		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39645944C>G	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.173G>C	17.37:g.39645944C>G	ENSP00000329165:p.Gly58Ala						p.G58A	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	173	-		Breast(137;0.000286)	58			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.173G>C	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.389740	0.00200	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.82619	-1.59;-1.63	5.43	5.43	0.79202	.	0.203478	0.24688	N	0.036416	T	0.69744	0.3145	L	0.33485	1.01	0.09310	N	1	B	0.18741	0.03	B	0.15484	0.013	T	0.51616	-0.8683	10	0.16896	T	0.51	.	5.4603	0.16614	0.1694:0.6762:0.0:0.1545	.	58	O76013	KRT36_HUMAN	A	8;58	ENSP00000377555:G8A;ENSP00000329165:G58A	ENSP00000329165:G58A	G	-	2	0	KRT36	36899470	0.279000	0.24239	0.066000	0.19879	0.013000	0.08279	2.677000	0.46892	2.539000	0.85634	0.563000	0.77884	GGC		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		17	70	0	0	0	0.00499	0	17	70				
MPP3	4356	broad.mit.edu	37	17	41895456	41895456	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:41895456C>A	ENST00000398389.4	-	12	1069	c.904G>T	c.(904-906)Gcg>Tcg	p.A302S	MPP3_ENST00000398393.1_Missense_Mutation_p.A327S	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	302					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGGTGCCCGCGGCTCTCCGG	0.642																																							uc002iei.3		NA																	0				large_intestine(1)|skin(1)	2						c.(904-906)GCG>TCG		palmitoylated membrane protein 3							10.0	13.0	12.0					17																	41895456		1844	4087	5931	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41895456C>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.904G>T	17.37:g.41895456C>A	ENSP00000381425:p.Ala302Ser					MPP3_uc002ieh.2_Missense_Mutation_p.A327S|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A302S|MPP3_uc010wik.1_Missense_Mutation_p.A327S	p.A302S	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	12	1070	-		Breast(137;0.00394)	302					B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.904G>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719169	0.30503	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.41065	1.01;1.01	4.56	0.996	0.19844	Src homology-3 domain (1);	0.552475	0.20895	N	0.083748	T	0.18841	0.0452	N	0.14661	0.345	0.21020	N	0.999807	B;B	0.17268	0.006;0.021	B;B	0.17722	0.019;0.019	T	0.30621	-0.9972	10	0.05620	T	0.96	.	7.6262	0.28214	0.0:0.2574:0.0:0.7426	.	302;327	Q13368;D3DX46	MPP3_HUMAN;.	S	327;302	ENSP00000381430:A327S;ENSP00000381425:A302S	ENSP00000381425:A302S	A	-	1	0	MPP3	39250982	0.981000	0.34729	0.741000	0.31004	0.944000	0.59088	0.660000	0.25009	0.031000	0.15407	-0.391000	0.06502	GCG		0.642	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		3	8	1	0	0.00024832	0.000248	0.000301804	3	8				
DCAKD	79877	broad.mit.edu	37	17	43111717	43111717	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:43111717C>A	ENST00000452796.2	-	2	409	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	DCAKD_ENST00000588499.1_Missense_Mutation_p.V52F|DCAKD_ENST00000310604.4_Missense_Mutation_p.V52F|DCAKD_ENST00000342350.5_Missense_Mutation_p.V52F|DCAKD_ENST00000588295.1_5'UTR			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	52	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GTGCCGAAGACCTCTACGATG	0.617																																							uc002ihx.2		NA																	0					0						c.(154-156)GTC>TTC		dephospho-CoA kinase domain containing							77.0	66.0	69.0					17																	43111717		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43111717C>A	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.154G>T	17.37:g.43111717C>A	ENSP00000413483:p.Val52Phe					DCAKD_uc010daa.1_Missense_Mutation_p.V52F|DCAKD_uc010dab.1_Missense_Mutation_p.V52F|DCAKD_uc002ihy.2_Missense_Mutation_p.V52F	p.V52F	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN			2	410	-		Prostate(33;0.155)	52			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.154G>T	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107193	0.08780	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.42900	0.96;0.96;0.96	5.04	4.08	0.47627	.	0.261559	0.42821	D	0.000645	T	0.25827	0.0629	L	0.32530	0.975	0.22280	N	0.999233	B;B	0.24368	0.102;0.046	B;B	0.29524	0.103;0.063	T	0.18903	-1.0322	10	0.10636	T	0.68	-36.4977	3.6476	0.08191	0.2136:0.4583:0.2472:0.0809	.	52;52	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	F	52	ENSP00000341504:V52F;ENSP00000413483:V52F;ENSP00000308515:V52F	ENSP00000308515:V52F	V	-	1	0	DCAKD	40467243	0.990000	0.36364	1.000000	0.80357	0.437000	0.31866	1.733000	0.38156	1.357000	0.45904	-0.258000	0.10820	GTC		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		6	24	1	0	8.12818e-05	0.001984	0.000101263	6	24				
NMT1	4836	broad.mit.edu	37	17	43183001	43183001	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:43183001A>G	ENST00000592782.1	+	13	1616	c.1485A>G	c.(1483-1485)ctA>ctG	p.L495L	NMT1_ENST00000258960.2_Silent_p.L495L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	495					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GACTGGTGCTACAATAACCAG	0.512																																							uc002ihz.2		NA																	0					0						c.(1483-1485)CTA>CTG		N-myristoyltransferase 1							165.0	115.0	132.0					17																	43183001		2203	4300	6503	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43183001A>G		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1485A>G	17.37:g.43183001A>G						NMT1_uc002iia.2_RNA	p.L495L	NM_021079	NP_066565	P30419	NMT1_HUMAN			12	1503	+		Prostate(33;0.155)	495					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1485A>G	CCDS11494.1																																																																																				0.512	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		16	58	0	0	0	0.00499	0	16	58				
ABCC3	8714	broad.mit.edu	37	17	48734068	48734068	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:48734068G>T	ENST00000285238.8	+	3	308	c.228G>T	c.(226-228)ctG>ctT	p.L76L	ABCC3_ENST00000427699.1_Silent_p.L76L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	76					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CGCAGGTCCTGGGTGTCCTGC	0.597																																							uc002isl.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(226-228)CTG>CTT		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						158.0	156.0	157.0					17																	48734068		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48734068G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.228G>T	17.37:g.48734068G>T						ABCC3_uc002isk.3_Silent_p.L76L	p.L76L	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		3	308	+			76			Helical; Name=2; (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.228G>T	CCDS32681.1																																																																																				0.597	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		25	83	1	0	8.24728e-16	0.004656	1.49073e-15	25	83				
MPO	4353	broad.mit.edu	37	17	56348200	56348200	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:56348200C>T	ENST00000225275.3	-	12	2231	c.2055G>A	c.(2053-2055)gtG>gtA	p.V685V	MPO_ENST00000340482.3_Silent_p.V717V	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	685					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCATGCTGAACACACCCTCGT	0.567																																							uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2053-2055)GTG>GTA		myeloperoxidase	Cefdinir(DB00535)						194.0	151.0	165.0					17																	56348200		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348200C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2055G>A	17.37:g.56348200C>T							p.V685V	NM_000250	NP_000241	P05164	PERM_HUMAN			12	2232	-			685					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2055G>A	CCDS11604.1																																																																																				0.567	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			6	57	0	0	0	0.001984	0	6	57				
MARCH10	162333	broad.mit.edu	37	17	60821831	60821831	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:60821831T>C	ENST00000311269.5	-	5	715	c.441A>G	c.(439-441)acA>acG	p.T147T	MARCH10_ENST00000544856.2_Silent_p.T146T|MARCH10_ENST00000456609.2_Silent_p.T147T|MARCH10_ENST00000583600.1_Silent_p.T185T	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	147					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGGGCTGACTGTAAATCTCC	0.478																																							uc010ddr.2		NA																	0					0						c.(439-441)ACA>ACG		ring finger protein 190							123.0	112.0	116.0					17																	60821831		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60821831T>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.441A>G	17.37:g.60821831T>C						MARCH10_uc002jag.3_Silent_p.T147T|MARCH10_uc010dds.2_Silent_p.T185T|MARCH10_uc002jah.2_Silent_p.T146T	p.T147T	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			5	679	-			147					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.441A>G	CCDS11635.1																																																																																				0.478	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		24	77	0	0	0	0.00333	0	24	77				
KCNH6	81033	broad.mit.edu	37	17	61607588	61607588	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:61607588G>C	ENST00000583023.1	+	3	455	c.444G>C	c.(442-444)ctG>ctC	p.L148L	KCNH6_ENST00000456941.2_Silent_p.L148L|KCNH6_ENST00000581784.1_Silent_p.L148L|KCNH6_ENST00000580652.1_Silent_p.L148L|KCNH6_ENST00000314672.5_Silent_p.L148L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	148					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCAGCGCCTGTTGTCCCAGA	0.642																																							uc002jay.2		NA																	0				skin(1)	1						c.(442-444)CTG>CTC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						57.0	57.0	57.0					17																	61607588		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607588G>C	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.444G>C	17.37:g.61607588G>C						KCNH6_uc002jax.1_Silent_p.L148L|KCNH6_uc010wpl.1_Silent_p.L25L|KCNH6_uc010wpm.1_Silent_p.L148L|KCNH6_uc002jaz.1_Silent_p.L148L	p.L148L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			3	524	+			148			Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.444G>C	CCDS11638.1																																																																																				0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		6	28	0	0	0	0.001168	0	6	28				
CSH2	1443	broad.mit.edu	37	17	61949662	61949663	+	Missense_Mutation	DNP	GG	GG	CT	rs184890744	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:61949662_61949663GG>CT	ENST00000392886.2	-	5	628_629	c.477_478CC>AG	c.(475-480)cgCCgg>cgAGgg	p.R160G	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R159R(1)|p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCGT	0.55																																							uc002jch.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		prostate(2)		0						c.(475-480)CGCCGG>CGAGGG		chorionic somatomammotropin hormone 2 isoform 1																																				SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662_61949663GG>CT	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.477_478delinsCT	17.37:g.61949662_61949663delinsCT	ENSP00000376623:p.Arg160Gly					CSH2_uc002jcg.2_Missense_Mutation_p.R65G|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.A158E|CSH2_uc002jck.2_Missense_Mutation_p.R160G	p.R160G	NM_020991	NP_066271	P01243	CSH_HUMAN			5	592_593	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	DNP	ENST00000392886.2	37	c.477_478CC>AG	CCDS42369.1																																																																																				0.550	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		26	100	0	0	0	0.004672	0	26	100				
CACNG5	27091	broad.mit.edu	37	17	64873633	64873633	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:64873633C>A	ENST00000533854.1	+	2	420	c.183C>A	c.(181-183)gtC>gtA	p.V61V	CACNG5_ENST00000169565.3_Silent_p.V61V|CACNG5_ENST00000307139.3_Silent_p.V61V			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	61					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.V61V(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTGGCGGGTCTGCTTCCTTG	0.617																																							uc010wqi.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(181-183)GTC>GTA		voltage-dependent calcium channel gamma-5							91.0	69.0	76.0					17																	64873633		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64873633C>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.183C>A	17.37:g.64873633C>A						CACNG5_uc002jfr.2_Silent_p.V61V|CACNG5_uc010wqj.1_Silent_p.V61V	p.V61V	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		2	420	+			61					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.183C>A	CCDS11665.1																																																																																				0.617	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		11	23	1	0	3.86212e-05	0.008291	4.87942e-05	11	23				
ABCA9	10350	broad.mit.edu	37	17	67047243	67047243	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:67047243C>A	ENST00000340001.4	-	2	236	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	ABCA9_ENST00000453985.2_Missense_Mutation_p.G9C|ABCA9_ENST00000495634.1_Missense_Mutation_p.G9C|ABCA9_ENST00000370732.2_Missense_Mutation_p.G9C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	9					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTTTGCTGACCCACGCTCATG	0.388																																							uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(25-27)GGT>TGT		ATP-binding cassette, sub-family A, member 9							135.0	125.0	128.0					17																	67047243		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67047243C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.25G>T	17.37:g.67047243C>A	ENSP00000342216:p.Gly9Cys					ABCA9_uc010dez.2_Missense_Mutation_p.G9C|ABCA9_uc002jhv.2_Missense_Mutation_p.G9C	p.G9C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			2	168	-	Breast(10;1.47e-12)		9					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.25G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.108717	0.00353	.	.	ENSG00000154258	ENST00000340001;ENST00000370732;ENST00000453749	D;D	0.86627	-2.05;-2.15	4.88	-3.64	0.04515	.	0.458064	0.16258	N	0.222387	T	0.67515	0.2901	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.55885	-0.8070	10	0.09338	T	0.73	.	1.782	0.03034	0.1243:0.3912:0.2249:0.2595	.	9;9	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	C	9;9;4	ENSP00000342216:G9C;ENSP00000359767:G9C	ENSP00000342216:G9C	G	-	1	0	ABCA9	64558838	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-1.040000	0.03546	-0.625000	0.05604	-1.731000	0.00696	GGT		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		8	50	1	0	0.000157383	0.00308	0.000191976	8	50				
ABCA10	10349	broad.mit.edu	37	17	67190585	67190585	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:67190585T>G	ENST00000269081.4	-	13	2195	c.1286A>C	c.(1285-1287)aAt>aCt	p.N429T	ABCA10_ENST00000416101.2_Missense_Mutation_p.N429T	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	429	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCAGCTCCATTATGCCCAAG	0.333																																							uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1285-1287)AAT>ACT		ATP-binding cassette, sub-family A, member 10							147.0	137.0	140.0					17																	67190585		2203	4298	6501	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67190585T>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1286A>C	17.37:g.67190585T>G	ENSP00000269081:p.Asn429Thr					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.N30T	p.N429T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			13	2165	-	Breast(10;6.95e-12)		429			ATP 1 (Potential).|ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1286A>C	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248208	0.39697	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	D;D	0.95656	-3.77;-3.77	3.8	1.76	0.24704	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.422826	0.16381	U	0.216882	D	0.95364	0.8495	M	0.89214	3.015	0.80722	D	1	P;B	0.47545	0.897;0.212	B;B	0.43867	0.434;0.103	D	0.93287	0.6665	10	0.87932	D	0	.	9.009	0.36129	0.0:0.8115:0.0:0.1885	.	429;429	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	T	429	ENSP00000269081:N429T;ENSP00000407772:N429T	ENSP00000269081:N429T	N	-	2	0	ABCA10	64702180	1.000000	0.71417	0.045000	0.18777	0.980000	0.70556	3.320000	0.51991	0.270000	0.21984	-0.479000	0.04858	AAT		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		17	50	0	0	0	0.00499	0	17	50				
CD300LB	124599	broad.mit.edu	37	17	72518919	72518919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:72518919G>T	ENST00000392621.1	-	4	679	c.675C>A	c.(673-675)taC>taA	p.Y225*		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	188					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGAAGTTCATGTAGATAGGCT	0.537																																							uc002jkx.2		NA																	0				ovary(1)	1						c.(673-675)TAC>TAA		CD300 molecule-like family member b							150.0	125.0	133.0					17																	72518919		2203	4300	6503	SO:0001587	stop_gained	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72518919G>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.675C>A	17.37:g.72518919G>T	ENSP00000376397:p.Tyr225*						p.Y225*	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			4	688	-			188	Y->F: No effect on interaction with TYROBP, but strongly reduces activation properties.		Cytoplasmic (Potential).		Q1EG73|Q8IX40|Q8N6D1	Nonsense_Mutation	SNP	ENST00000392621.1	37	c.675C>A	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	9.378	1.072219	0.20147	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	.	.	.	4.46	-8.92	0.00774	.	3.926350	0.00913	N	0.002499	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.5916	9.4878	0.38940	0.3262:0.1204:0.5534:0.0	.	.	.	.	X	188;225	.	ENSP00000317337:Y225X	Y	-	3	2	CD300LB	70030514	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.766000	0.01797	-2.004000	0.00961	-0.448000	0.05591	TAC		0.537	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		15	70	1	0	6.72482e-11	0.003163	1.09472e-10	15	70				
KCTD2	23510	broad.mit.edu	37	17	73055695	73055695	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:73055695G>C	ENST00000322444.6	+	4	637	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	KCTD2_ENST00000581589.1_Missense_Mutation_p.E12Q	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	211					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTGGAAATTCGAACAGGTACA	0.537																																							uc002jmp.2		NA																	0					0						c.(631-633)GAA>CAA		potassium channel tetramerisation domain							97.0	78.0	85.0					17																	73055695		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055695G>C	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.631G>C	17.37:g.73055695G>C	ENSP00000312814:p.Glu211Gln					KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	p.E211Q	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			4	698	+	all_lung(278;0.226)		211						Missense_Mutation	SNP	ENST00000322444.6	37	c.631G>C	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021685	0.93462	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.78816	-1.21	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	D	0.89536	0.3789	10	0.51188	T	0.08	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	211	Q14681	KCTD2_HUMAN	Q	211;193	ENSP00000312814:E211Q	ENSP00000312814:E211Q	E	+	1	0	KCTD2	70567290	1.000000	0.71417	0.990000	0.47175	0.753000	0.42808	9.766000	0.98957	2.724000	0.93272	0.563000	0.77884	GAA		0.537	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			4	43	0	0	0	0.000602	0	4	43				
RECQL5	9400	broad.mit.edu	37	17	73662539	73662539	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:73662539T>C	ENST00000317905.5	-	2	258	c.99A>G	c.(97-99)ttA>ttG	p.L33L	RECQL5_ENST00000420326.2_Silent_p.L33L|RECQL5_ENST00000340830.5_Silent_p.L33L|SAP30BP_ENST00000584667.1_5'Flank|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000423245.2_Silent_p.L33L|RECQL5_ENST00000584999.1_Silent_p.L33L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	33					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACTCTCCTGTAAAGGCGTCT	0.483								Other identified genes with known or suspected DNA repair function																															uc010dgl.2		NA																	0				kidney(3)	3						c.(97-99)TTA>TTG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							113.0	106.0	108.0					17																	73662539		2203	4300	6503	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73662539T>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.99A>G	17.37:g.73662539T>C						RECQL5_uc010dgk.2_Silent_p.L33L|RECQL5_uc002jpb.1_Silent_p.L33L|RECQL5_uc002joz.3_Silent_p.L33L|RECQL5_uc002jpa.3_Silent_p.L33L|SAP30BP_uc010dgm.1_5'Flank|SAP30BP_uc002jpc.1_5'Flank|SAP30BP_uc010wsf.1_5'Flank|SAP30BP_uc010wsg.1_5'Flank|SAP30BP_uc002jpe.2_5'Flank|SAP30BP_uc002jpf.2_5'Flank	p.L33L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		2	255	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		33					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.99A>G	CCDS42380.1																																																																																				0.483	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		23	58	0	0	0	0.00333	0	23	58				
EVPL	2125	broad.mit.edu	37	17	74005011	74005011	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:74005011G>A	ENST00000301607.3	-	22	4528	c.4275C>T	c.(4273-4275)ttC>ttT	p.F1425F	EVPL_ENST00000586740.1_Silent_p.F1447F|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1425	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCTCCTGGAAGCTGAGCA	0.692																																							uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(4273-4275)TTC>TTT		envoplakin							51.0	54.0	53.0					17																	74005011		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005011G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4275C>T	17.37:g.74005011G>A						EVPL_uc010wss.1_Silent_p.F1447F|EVPL_uc010wst.1_Silent_p.F895F	p.F1425F	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	4503	-			1425			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.4275C>T	CCDS11737.1																																																																																				0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		11	61	0	0	0	0.001855	0	11	61				
DNAH17	8632	broad.mit.edu	37	17	76565498	76565498	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:76565498T>A	ENST00000585328.1	-	8	1280	c.1156A>T	c.(1156-1158)Acg>Tcg	p.T386S	DNAH17_ENST00000389840.5_Missense_Mutation_p.T386S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	386	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGTACGTCTGGTAGAGC	0.562																																							uc002jvv.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(262-264)ACG>TCG		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							89.0	66.0	73.0					17																	76565498		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76565498T>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1156A>T	17.37:g.76565498T>A	ENSP00000465516:p.Thr386Ser						p.T88S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		4	368	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.262A>T		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.021328	0.00414	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54479	0.57	4.65	-4.06	0.03986	.	1.506000	0.04789	N	0.431360	T	0.32315	0.0825	N	0.16743	0.435	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.16867	-1.0388	10	0.21540	T	0.41	.	7.7814	0.29066	0.1169:0.5998:0.0:0.2833	.	88	Q9UFH2-4	.	S	386	ENSP00000374490:T386S	ENSP00000300671:T386S	T	-	1	0	DNAH17	74077093	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.357000	0.02607	-0.699000	0.05077	-0.366000	0.07423	ACG		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	9	0	0	0	0.000602	0	4	9				
CCDC137	339230	broad.mit.edu	37	17	79638803	79638803	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:79638803G>T	ENST00000329214.8	+	4	930	c.527G>T	c.(526-528)cGa>cTa	p.R176L		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	176							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATAAAGTCCGACGGAAAAAG	0.577																																							uc002kbc.3		NA																	0				central_nervous_system(1)	1						c.(526-528)CGA>CTA		coiled-coil domain containing 137							53.0	59.0	57.0					17																	79638803		1977	4159	6136	SO:0001583	missense	339230							g.chr17:79638803G>T	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.527G>T	17.37:g.79638803G>T	ENSP00000329360:p.Arg176Leu					CCDC137_uc002kbd.2_RNA	p.R176L	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		4	563	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		176			Potential.			Missense_Mutation	SNP	ENST00000329214.8	37	c.527G>T	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474631	0.12521	.	.	ENSG00000185298	ENST00000329214	D	0.90261	-2.64	5.12	0.759	0.18438	.	0.401005	0.25820	N	0.028089	D	0.83792	0.5331	L	0.43152	1.355	0.09310	N	1	B	0.22346	0.068	B	0.19666	0.026	T	0.71454	-0.4588	10	0.46703	T	0.11	-1.8525	6.7581	0.23526	0.2833:0.0:0.6005:0.1162	.	176	Q6PK04	CC137_HUMAN	L	176	ENSP00000329360:R176L	ENSP00000329360:R176L	R	+	2	0	CCDC137	77249208	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.041000	0.12084	-0.301000	0.08882	-0.797000	0.03246	CGA		0.577	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			6	73	1	0	0.00198382	0.001984	0.00231877	6	73				
COLEC12	81035	broad.mit.edu	37	18	321716	321716	+	Missense_Mutation	SNP	C	C	A	rs141957359		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:321716C>A	ENST00000400256.3	-	9	2362	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	719	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATTGGAAATCGTTCCACTGC	0.483																																							uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2155-2157)GAT>TAT		collectin sub-family member 12							253.0	251.0	251.0					18																	321716		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:321716C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2155G>T	18.37:g.321716C>A	ENSP00000383115:p.Asp719Tyr						p.D719Y	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			9	2370	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	719			Extracellular (Potential).|C-type lectin.	Calcium 3.|Carbohydrate; via carbonyl oxygen (By similarity).	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.2155G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329022	0.81690	.	.	ENSG00000158270	ENST00000400256	T	0.24538	1.85	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82744	-0.0306	10	0.87932	D	0	-22.5603	19.786	0.96437	0.0:1.0:0.0:0.0	.	719	Q5KU26	COL12_HUMAN	Y	719	ENSP00000383115:D719Y	ENSP00000383115:D719Y	D	-	1	0	COLEC12	311716	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	7.240000	0.78192	2.676000	0.91093	0.563000	0.77884	GAT		0.483	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			28	163	1	0	5.45727e-16	0.008361	9.89084e-16	28	163				
MC2R	4158	broad.mit.edu	37	18	13885436	13885436	+	Nonsense_Mutation	SNP	C	C	A	rs574516888		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:13885436C>A	ENST00000327606.3	-	2	262	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	28					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AATATCTCCTCCGGCAAAACC	0.413																																					Colon(141;1584 1782 35999 48227 48692)	Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(82-84)GAG>TAG		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						147.0	127.0	134.0					18																	13885436		2203	4300	6503	SO:0001587	stop_gained	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885436C>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.82G>T	18.37:g.13885436C>A	ENSP00000333821:p.Glu28*						p.E28*	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	259	-			28			Helical; Name=1; (By similarity).		A8K016|Q3MI45|Q504X6	Nonsense_Mutation	SNP	ENST00000327606.3	37	c.82G>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	34	5.303060	0.95601	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	4.39	4.39	0.52855	.	0.282091	0.33772	N	0.004568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.3372	0.87285	0.0:1.0:0.0:0.0	.	.	.	.	X	28	.	ENSP00000333821:E28X	E	-	1	0	MC2R	13875436	0.375000	0.25089	0.443000	0.26883	0.696000	0.40369	0.929000	0.28844	2.171000	0.68590	0.650000	0.86243	GAG		0.413	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			9	36	1	0	0.00621372	0.006214	0.00712032	9	36				
CTAGE1	64693	broad.mit.edu	37	18	19996602	19996602	+	5'Flank	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:19996602G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.I391I			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGCATGGCTGATCATTTCGT	0.343																																							uc002ktv.1		NA																	0				ovary(1)	1						c.(1171-1173)ATC>ATT		cutaneous T-cell lymphoma-associated antigen 1							74.0	86.0	82.0					18																	19996602		2184	4291	6475	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996602G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996602G>A	Exception_encountered						p.I391I	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1277	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		391			Potential.		B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.1173C>T																																																																																					0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		16	169	0	0	0	0.004007	0	16	169				
CTAGE1	64693	broad.mit.edu	37	18	19996730	19996730	+	5'Flank	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:19996730G>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.Q349K			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTTTCTGCTGAAGCTTCTGA	0.328																																							uc002ktv.1		NA																	0				ovary(1)	1						c.(1045-1047)CAG>AAG		cutaneous T-cell lymphoma-associated antigen 1							33.0	38.0	36.0					18																	19996730		2181	4278	6459	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996730G>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996730G>T	Exception_encountered						p.Q349K	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1149	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		349			Potential.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1045C>A		.	.	.	.	.	.	.	.	.	.	G	12.72	2.022220	0.35701	.	.	ENSG00000212710	ENST00000391403	T	0.37235	1.21	0.87	0.87	0.19102	.	.	.	.	.	T	0.49406	0.1555	M	0.74881	2.28	0.32901	D	0.51314	D	0.56521	0.976	P	0.61658	0.892	T	0.58120	-0.7692	8	.	.	.	.	5.1022	0.14766	0.0:0.0:1.0:0.0	.	349	Q96RT6	CTGE2_HUMAN	K	349	ENSP00000375220:Q349K	.	Q	-	1	0	CTAGE1	18250728	1.000000	0.71417	0.615000	0.29064	0.351000	0.29236	3.667000	0.54547	0.756000	0.33013	0.549000	0.68633	CAG		0.328	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		18	105	1	0	9.16793e-09	0.00499	1.38968e-08	18	105				
ZNF521	25925	broad.mit.edu	37	18	22804767	22804767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:22804767C>A	ENST00000361524.3	-	4	3263	c.3115G>T	c.(3115-3117)Ggg>Tgg	p.G1039W	ZNF521_ENST00000584787.1_Missense_Mutation_p.G819W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1039W|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1039					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.G1039W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGAACGTCCCATGGATTTTG	0.532			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3115-3117)GGG>TGG		zinc finger protein 521							82.0	65.0	71.0					18																	22804767		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804767C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3115G>T	18.37:g.22804767C>A	ENSP00000354794:p.Gly1039Trp					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G1039W|ZNF521_uc002kvl.2_Missense_Mutation_p.G819W	p.G1039W	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3362	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1039			C2H2-type 24.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3115G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822699	0.32237	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09538	2.97;2.97	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	N	0.24115	0.695	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.01178	-1.1427	10	0.59425	D	0.04	-25.3562	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1039	Q96K83	ZN521_HUMAN	W	1039;1073;1039	ENSP00000354794:G1039W;ENSP00000382352:G1039W	ENSP00000354794:G1039W	G	-	1	0	ZNF521	21058765	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	7.487000	0.81328	2.835000	0.97688	0.650000	0.86243	GGG		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		11	28	1	0	1.08611e-07	0.000978	1.56675e-07	11	28				
ZNF521	25925	broad.mit.edu	37	18	22804769	22804769	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:22804769T>A	ENST00000361524.3	-	4	3261	c.3113A>T	c.(3112-3114)cAt>cTt	p.H1038L	ZNF521_ENST00000584787.1_Missense_Mutation_p.H818L|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1038L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1038					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAACGTCCCATGGATTTTGAG	0.537			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(3112-3114)CAT>CTT		zinc finger protein 521							82.0	65.0	71.0					18																	22804769		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804769T>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3113A>T	18.37:g.22804769T>A	ENSP00000354794:p.His1038Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.H1038L|ZNF521_uc002kvl.2_Missense_Mutation_p.H818L	p.H1038L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3360	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1038			C2H2-type 24.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3113A>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963265	0.34659	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.55234	0.53;0.63	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	L	0.29908	0.895	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.66897	-0.5807	10	0.87932	D	0	-28.1245	16.4781	0.84144	0.0:0.0:0.0:1.0	.	1038	Q96K83	ZN521_HUMAN	L	1038;1072;1038	ENSP00000354794:H1038L;ENSP00000382352:H1038L	ENSP00000354794:H1038L	H	-	2	0	ZNF521	21058767	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	7.698000	0.84413	2.288000	0.76882	0.528000	0.53228	CAT		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		11	28	0	0	0	0.000978	0	11	28				
DTNA	1837	broad.mit.edu	37	18	32455254	32455254	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:32455254C>A	ENST00000399113.3	+	17	1714	c.1714C>A	c.(1714-1716)Cca>Aca	p.P572T	DTNA_ENST00000283365.9_Missense_Mutation_p.P515T|DTNA_ENST00000399121.5_Missense_Mutation_p.P519T|DTNA_ENST00000598142.1_Missense_Mutation_p.P515T|DTNA_ENST00000269190.7_Missense_Mutation_p.P573T|DTNA_ENST00000556414.3_Missense_Mutation_p.P224T|DTNA_ENST00000399097.3_Missense_Mutation_p.P220T|DTNA_ENST00000444659.1_Missense_Mutation_p.P572T|DTNA_ENST00000591182.1_Missense_Mutation_p.P220T|DTNA_ENST00000269192.7_Missense_Mutation_p.P281T|DTNA_ENST00000598334.1_Missense_Mutation_p.P512T|DTNA_ENST00000590831.2_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.P512T|DTNA_ENST00000601125.1_Missense_Mutation_p.P194T			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	572					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CATCAGCAGGCCAATTCCCAT	0.587																																							uc010dmn.1		NA																	0					0						c.(1714-1716)CCA>ACA		dystrobrevin alpha isoform 1							70.0	62.0	65.0					18																	32455254		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32455254C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1714C>A	18.37:g.32455254C>A	ENSP00000382064:p.Pro572Thr					DTNA_uc002kxw.2_Missense_Mutation_p.P515T|DTNA_uc010dmj.2_Missense_Mutation_p.P512T|DTNA_uc002kxz.2_Missense_Mutation_p.P519T|DTNA_uc002kxy.2_Missense_Mutation_p.P512T|DTNA_uc010xby.1_Missense_Mutation_p.P262T|DTNA_uc010xbz.1_Missense_Mutation_p.P281T|DTNA_uc010xca.1_Missense_Mutation_p.P224T|DTNA_uc002kye.2_Missense_Mutation_p.P220T	p.P572T	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			17	1715	+			572					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1714C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007678	0.75046	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.20069	2.13;2.1;2.1;2.1	5.52	5.52	0.82312	.	0.103792	0.64402	D	0.000002	T	0.40498	0.1119	L	0.40543	1.245	0.53688	D	0.999974	D;P;D;B;B;D;B;B;B	0.89917	0.981;0.542;0.999;0.021;0.065;1.0;0.048;0.038;0.028	P;B;D;B;B;D;B;B;B	0.87578	0.74;0.279;0.994;0.015;0.03;0.998;0.009;0.013;0.03	T	0.02975	-1.1087	10	0.41790	T	0.15	-18.4753	19.7987	0.96497	0.0:1.0:0.0:0.0	.	224;281;262;572;515;220;519;523;515	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	T	515;515;519;573;220;572;572;572;281;220;224	ENSP00000283365:P515T;ENSP00000269190:P573T;ENSP00000405819:P572T;ENSP00000382064:P572T	ENSP00000269190:P573T	P	+	1	0	DTNA	30709252	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.027000	0.49697	2.767000	0.95098	0.655000	0.94253	CCA		0.587	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		9	34	1	0	0.00621372	0.006214	0.00712032	9	34				
LIPG	9388	broad.mit.edu	37	18	47101900	47101900	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:47101900G>T	ENST00000261292.4	+	5	1011	c.733G>T	c.(733-735)Ggg>Tgg	p.G245W	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.G245W|LIPG_ENST00000577628.1_Missense_Mutation_p.G281W	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	245					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTACCCCAATGGGGGTGACTT	0.493																																					Pancreas(126;280 1778 12814 26243 34948)	Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	0				ovary(1)|skin(1)	2						c.(733-735)GGG>TGG		endothelial lipase precursor							92.0	75.0	81.0					18																	47101900		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101900G>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.733G>T	18.37:g.47101900G>T	ENSP00000261292:p.Gly245Trp					LIPG_uc002ldu.1_Missense_Mutation_p.G245W|LIPG_uc010xdh.1_Intron	p.G245W	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			5	985	+			245					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.733G>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891452	0.91889	.	.	ENSG00000101670	ENST00000261292	D	0.98512	-4.97	5.72	5.72	0.89469	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98903	1.0777	10	0.87932	D	0	-40.4332	19.8548	0.96752	0.0:0.0:1.0:0.0	.	245;245	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	W	245	ENSP00000261292:G245W	ENSP00000261292:G245W	G	+	1	0	LIPG	45355898	1.000000	0.71417	0.581000	0.28614	0.968000	0.65278	9.860000	0.99555	2.702000	0.92279	0.591000	0.81541	GGG		0.493	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		6	21	1	0	0.000157383	0.00308	0.000191976	6	21				
MYO5B	4645	broad.mit.edu	37	18	47511162	47511162	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:47511162C>G	ENST00000285039.7	-	8	1171	c.872G>C	c.(871-873)gGa>gCa	p.G291A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	291	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGTCTCCTCCCTGTGATGT	0.522																																							uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(871-873)GGA>GCA		myosin VB							110.0	114.0	112.0					18																	47511162		2005	4159	6164	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47511162C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.872G>C	18.37:g.47511162C>G	ENSP00000285039:p.Gly291Ala					MYO5B_uc002lec.1_Missense_Mutation_p.G290A	p.G291A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	8	1160	-			291			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.872G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016623	0.93404	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95885	-3.84	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.971;1.0	D;D	0.80764	0.951;0.994	D	0.98530	1.0627	10	0.72032	D	0.01	.	19.0229	0.92922	0.0:1.0:0.0:0.0	.	290;291	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	A	291;290	ENSP00000285039:G291A	ENSP00000285039:G291A	G	-	2	0	MYO5B	45765160	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	7.763000	0.85283	2.583000	0.87209	0.561000	0.74099	GGA		0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			9	30	0	0	0	0.004482	0	9	30				
MALT1	10892	broad.mit.edu	37	18	56414758	56414758	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:56414758G>T	ENST00000348428.3	+	17	2417	c.2159G>T	c.(2158-2160)gGt>gTt	p.G720V	MALT1_ENST00000345724.3_Missense_Mutation_p.G709V|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	720					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ATGCATCGAGGTTTGGGAAGG	0.433			T	BIRC3	MALT																																		uc002lhm.1		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2158-2160)GGT>GTT		mucosa associated lymphoid tissue lymphoma							169.0	165.0	167.0					18																	56414758		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56414758G>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2159G>T	18.37:g.56414758G>T	ENSP00000319279:p.Gly720Val					MALT1_uc002lhn.1_Missense_Mutation_p.G709V	p.G720V	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			17	2417	+			720					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.2159G>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166599	0.57476	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.12569	2.67;2.69	5.64	2.85	0.33270	.	0.580895	0.20086	N	0.099556	T	0.21881	0.0527	M	0.61703	1.905	0.47778	D	0.999517	P;P	0.52463	0.953;0.921	P;P	0.51742	0.678;0.478	T	0.00712	-1.1598	10	0.54805	T	0.06	.	8.3221	0.32134	0.1415:0.1295:0.729:0.0	.	709;720	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	720;709	ENSP00000319279:G720V;ENSP00000304161:G709V	ENSP00000304161:G709V	G	+	2	0	MALT1	54565738	0.997000	0.39634	0.086000	0.20670	0.956000	0.61745	3.294000	0.51787	0.314000	0.23086	0.650000	0.86243	GGT		0.433	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			21	85	1	0	2.21704e-12	0.00278	3.74055e-12	21	85				
CBLN2	147381	broad.mit.edu	37	18	70209247	70209247	+	Missense_Mutation	SNP	C	C	A	rs560158029		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:70209247C>A	ENST00000269503.4	-	3	922	c.149G>T	c.(148-150)cGg>cTg	p.R50L	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R50L|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	50					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTCTGCGCCCGCACGGGGCA	0.756																																							uc002lku.2		NA																	0					0						c.(148-150)CGG>CTG		cerebellin 2 precursor							20.0	21.0	21.0					18																	70209247		2200	4296	6496	SO:0001583	missense	147381					integral to membrane		g.chr18:70209247C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.149G>T	18.37:g.70209247C>A	ENSP00000269503:p.Arg50Leu					CBLN2_uc002lkv.2_Missense_Mutation_p.R50L	p.R50L	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	384	-		Esophageal squamous(42;0.131)	50					Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.149G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192812	0.38707	.	.	ENSG00000141668	ENST00000269503	T	0.81415	-1.49	4.54	2.55	0.30701	.	0.700308	0.14094	N	0.341825	T	0.67655	0.2916	L	0.43923	1.385	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54296	-0.8315	10	0.09843	T	0.71	-2.823	6.164	0.20380	0.0:0.5626:0.2647:0.1726	.	50	Q8IUK8	CBLN2_HUMAN	L	50	ENSP00000269503:R50L	ENSP00000269503:R50L	R	-	2	0	CBLN2	68360227	.	.	0.991000	0.47740	0.976000	0.68499	.	.	1.010000	0.39314	0.462000	0.41574	CGG		0.756	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		4	12	1	0	3.59834e-05	0.001168	4.57629e-05	4	12				
CDC34	997	broad.mit.edu	37	19	537086	537086	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:537086G>T	ENST00000215574.4	+	4	654	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	146					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGACGCCTCCGTGATGTACAG	0.617																																							uc002lov.2		NA																	0					0						c.(436-438)GTG>TTG		ubiquitin-conjugating enzyme Cdc34							120.0	94.0	103.0					19																	537086		2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537086G>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.436G>T	19.37:g.537086G>T	ENSP00000215574:p.Val146Leu						p.V146L	NM_004359	NP_004350	P49427	UB2R1_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)	4	635	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	146					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.436G>T	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888848	0.52014	.	.	ENSG00000099804	ENST00000215574	T	0.37584	1.19	5.47	5.47	0.80525	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.56124	1.755	0.80722	D	1	B	0.20671	0.047	B	0.26770	0.073	T	0.22871	-1.0204	10	0.54805	T	0.06	-14.3829	18.3019	0.90167	0.0:0.0:1.0:0.0	.	146	P49427	UB2R1_HUMAN	L	146	ENSP00000215574:V146L	ENSP00000215574:V146L	V	+	1	0	CDC34	488086	1.000000	0.71417	0.933000	0.37362	0.072000	0.16883	7.808000	0.86044	2.564000	0.86499	0.585000	0.79938	GTG		0.617	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		12	53	1	0	3.07112e-06	0.000978	4.16617e-06	12	53				
POLRMT	5442	broad.mit.edu	37	19	624806	624806	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:624806C>G	ENST00000588649.2	-	5	1137	c.1053G>C	c.(1051-1053)gtG>gtC	p.V351V	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	351					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCACCTTGTGCACGGCCTTCA	0.637																																							uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1051-1053)GTG>GTC		mitochondrial DNA-directed RNA polymerase							86.0	80.0	82.0					19																	624806		2203	4300	6503	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:624806C>G		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1053G>C	19.37:g.624806C>G							p.V351V	NM_005035	NP_005026	O00411	RPOM_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	1109	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	351					O60370	Silent	SNP	ENST00000588649.2	37	c.1053G>C	CCDS12036.1																																																																																				0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		19	42	0	0	0	0.001882	0	19	42				
TCF3	6929	broad.mit.edu	37	19	1623968	1623968	+	Silent	SNP	C	C	A	rs199702817		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:1623968C>A	ENST00000262965.5	-	8	875	c.531G>T	c.(529-531)ccG>ccT	p.P177P	TCF3_ENST00000588136.1_Silent_p.P177P|TCF3_ENST00000395423.3_Silent_p.P126P|TCF3_ENST00000453954.2_Silent_p.P93P|TCF3_ENST00000344749.5_Silent_p.P177P	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|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)	p.P177P(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GAAGACCCGGCGGGACCTTCC	0.632			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																		uc002ltr.2		NA		Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	PBX1|HLF|TFPT		pre B-ALL		2	Substitution - coding silent(2)		kidney(2)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7						c.(529-531)CCG>CCT		transcription factor 3 isoform E12							55.0	58.0	57.0					19																	1623968		2202	4300	6502	SO:0001819	synonymous_variant	6929				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1623968C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.531G>T	19.37:g.1623968C>A						TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Silent_p.P177P|TCF3_uc002ltq.2_Silent_p.P126P|TCF3_uc002lts.1_Silent_p.P93P	p.P177P	NM_003200	NP_003191	P15923	TFE2_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)	8	598	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	177					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.531G>T	CCDS12074.1																																																																																				0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		7	13	1	0	0.00448238	0.004482	0.00518058	7	13				
TIMM44	10469	broad.mit.edu	37	19	7997545	7997545	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:7997545C>A	ENST00000270538.3	-	9	1222	c.954G>T	c.(952-954)caG>caT	p.Q318H	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	318					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGTTCTCGCACTGTTTCAGAA	0.647																																							uc002miz.2		NA																	0				ovary(1)	1						c.(952-954)CAG>CAT		translocase of inner mitochondrial membrane 44							68.0	72.0	71.0					19																	7997545		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7997545C>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.954G>T	19.37:g.7997545C>A	ENSP00000270538:p.Gln318His					TIMM44_uc002mja.2_Missense_Mutation_p.Q58H|TIMM44_uc010dvx.1_RNA	p.Q318H	NM_006351	NP_006342	O43615	TIM44_HUMAN			9	956	-			318					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.954G>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921536	0.17982	.	.	ENSG00000104980	ENST00000270538	T	0.76839	-1.05	4.8	2.62	0.31277	.	0.110834	0.64402	D	0.000007	T	0.64483	0.2602	L	0.37800	1.135	0.48830	D	0.99971	B	0.31519	0.327	B	0.33042	0.157	T	0.55685	-0.8102	10	0.13108	T	0.6	-33.7591	9.9182	0.41448	0.0:0.8168:0.0:0.1832	.	318	O43615	TIM44_HUMAN	H	318	ENSP00000270538:Q318H	ENSP00000270538:Q318H	Q	-	3	2	TIMM44	7903545	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	0.903000	0.28475	1.148000	0.42385	0.561000	0.74099	CAG		0.647	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			17	30	1	0	1.56452e-12	0.007413	2.64963e-12	17	30				
FBN3	84467	broad.mit.edu	37	19	8175977	8175977	+	Missense_Mutation	SNP	C	C	A	rs145427911	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:8175977C>A	ENST00000600128.1	-	33	4589	c.4175G>T	c.(4174-4176)gGc>gTc	p.G1392V	FBN3_ENST00000270509.2_Missense_Mutation_p.G1392V|FBN3_ENST00000601739.1_Missense_Mutation_p.G1392V			Q75N90	FBN3_HUMAN	fibrillin 3	1392	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGTCAAAGCCCATCTCACA	0.657																																							uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4174-4176)GGC>GTC		fibrillin 3 precursor							75.0	68.0	71.0					19																	8175977		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175977C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4175G>T	19.37:g.8175977C>A	ENSP00000470498:p.Gly1392Val						p.G1392V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			32	4196	-			1392			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4175G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877936	0.51801	.	.	ENSG00000142449	ENST00000270509	D	0.92965	-3.14	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.97467	0.9171	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99260	1.0890	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1392	Q75N90	FBN3_HUMAN	V	1392	ENSP00000270509:G1392V	ENSP00000270509:G1392V	G	-	2	0	FBN3	8081977	1.000000	0.71417	0.316000	0.25252	0.058000	0.15608	7.207000	0.77899	1.758000	0.51981	0.462000	0.41574	GGC		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	19	1	0	2.0095e-06	0.001984	2.76512e-06	7	19				
ZNF823	55552	broad.mit.edu	37	19	11832562	11832562	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:11832562C>A	ENST00000341191.6	-	4	1940	c.1787G>T	c.(1786-1788)cGt>cTt	p.R596L	ZNF823_ENST00000545749.1_Missense_Mutation_p.R414L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	596					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(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGCAAGGAACGGAGAGAACT	0.398										HNSCC(68;0.2)																													uc002msm.2		NA																	0				ovary(2)	2						c.(1786-1788)CGT>CTT		ZFP-36 for a zinc finger protein							80.0	81.0	81.0					19																	11832562		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832562C>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1787G>T	19.37:g.11832562C>A	ENSP00000340683:p.Arg596Leu	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Missense_Mutation_p.R414L|ZNF823_uc010dyi.1_Missense_Mutation_p.R552L	p.R596L	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	1913	-			596			C2H2-type 16.		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1787G>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	8.356	0.831909	0.16820	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.60171	0.21;0.21	0.672	-0.64	0.11493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40909	0.1136	L	0.46885	1.475	0.09310	N	1	P	0.35894	0.526	B	0.28465	0.09	T	0.30937	-0.9961	9	0.87932	D	0	.	3.2432	0.06788	0.0:0.4674:0.2638:0.2688	.	596	P16415	ZN823_HUMAN	L	414;596	ENSP00000440162:R414L;ENSP00000340683:R596L	ENSP00000340683:R596L	R	-	2	0	ZNF823	11693562	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	-1.715000	0.01880	-0.292000	0.08999	0.305000	0.20034	CGT		0.398	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		19	51	1	0	1.15919e-05	0.001216	1.52926e-05	19	51				
PLVAP	83483	broad.mit.edu	37	19	17476209	17476209	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:17476209C>A	ENST00000252590.4	-	3	1126	c.1065G>T	c.(1063-1065)cgG>cgT	p.R355R	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	355					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGTTCCTTCCGCAGCACCG	0.617																																							uc002ngk.1		NA																	0					0						c.(1063-1065)CGG>CGT		plasmalemma vesicle associated protein							94.0	81.0	85.0					19																	17476209		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476209C>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1065G>T	19.37:g.17476209C>A							p.R355R	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1115	-			355			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.1065G>T	CCDS32952.1																																																																																				0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		15	40	1	0	6.72482e-11	0.003163	1.09472e-10	15	40				
ZNF682	91120	broad.mit.edu	37	19	20117282	20117282	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:20117282A>G	ENST00000397165.2	-	4	1189	c.1029T>C	c.(1027-1029)tgT>tgC	p.C343C	ZNF682_ENST00000397162.1_Silent_p.C311C|ZNF682_ENST00000358523.5_Silent_p.C311C|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Silent_p.C267C|ZNF682_ENST00000597972.1_Silent_p.C349C	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	343					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(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CACATTCTTCACATTTATAGG	0.373																																							uc002noq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1027-1029)TGT>TGC		zinc finger protein 682 isoform 1							55.0	59.0	58.0					19																	20117282		2139	4259	6398	SO:0001819	synonymous_variant	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117282A>G	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1029T>C	19.37:g.20117282A>G						ZNF682_uc002noo.2_Silent_p.C311C|ZNF682_uc002nop.2_Silent_p.C311C|ZNF682_uc010eck.2_Silent_p.C267C	p.C343C	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	1152	-			343			C2H2-type 7.		B3KU64|E9PFJ5|Q96JV9	Silent	SNP	ENST00000397165.2	37	c.1029T>C	CCDS42533.1																																																																																				0.373	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		19	37	0	0	0	0.007413	0	19	37				
CCNE1	898	broad.mit.edu	37	19	30314607	30314607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:30314607G>T	ENST00000262643.3	+	12	1435	c.1156G>T	c.(1156-1158)Gct>Tct	p.A386S	CCNE1_ENST00000444983.2_Missense_Mutation_p.A371S|CCNE1_ENST00000357943.5_Missense_Mutation_p.A343S	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	386					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ACAAAATAGGGCTTCTCCTCT	0.522			A		serous ovarian																																		uc002nsn.2		NA		Dom	yes		19	19q12	898		cyclin E1			E					0				lung(2)	2						c.(1156-1158)GCT>TCT		cyclin E1 isoform 1							74.0	75.0	75.0					19																	30314607		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30314607G>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1156G>T	19.37:g.30314607G>T	ENSP00000262643:p.Ala386Ser					CCNE1_uc002nso.2_Missense_Mutation_p.A371S|CCNE1_uc002nsp.2_Missense_Mutation_p.A133S	p.A386S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		12	1339	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		386					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.1156G>T	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	G	1.009	-0.688365	0.03328	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.47528	1.85;0.84;1.85	5.98	-6.51	0.01878	.	1.097680	0.06660	N	0.764245	T	0.20373	0.0490	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40308	-0.9570	10	0.08381	T	0.77	.	11.8227	0.52247	0.354:0.0:0.5547:0.0913	.	386	P24864	CCNE1_HUMAN	S	386;343;371	ENSP00000262643:A386S;ENSP00000350625:A343S;ENSP00000410179:A371S	ENSP00000262643:A386S	A	+	1	0	CCNE1	35006447	0.975000	0.34042	0.003000	0.11579	0.498000	0.33706	0.484000	0.22308	-1.293000	0.02362	-0.781000	0.03364	GCT		0.522	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		8	53	1	0	1.06961e-07	0.00308	1.55129e-07	8	53				
ZNF536	9745	broad.mit.edu	37	19	30936469	30936469	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:30936469G>T	ENST00000355537.3	+	2	2147	c.2000G>T	c.(1999-2001)gGc>gTc	p.G667V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	667					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCACGTGGGCCTGGATGAG	0.697																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1999-2001)GGC>GTC		zinc finger protein 536							41.0	45.0	44.0					19																	30936469		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936469G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2000G>T	19.37:g.30936469G>T	ENSP00000347730:p.Gly667Val					ZNF536_uc010edd.1_Missense_Mutation_p.G667V	p.G667V	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2138	+	Esophageal squamous(110;0.0834)		667					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2000G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	7.396	0.631823	0.14322	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.42	4.35	0.52113	.	0.382752	0.30060	N	0.010505	T	0.04907	0.0132	N	0.03608	-0.345	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.38887	-0.9640	10	0.42905	T	0.14	-13.6473	15.8671	0.79074	0.0:0.1361:0.8639:0.0	.	667;667	A7E228;O15090	.;ZN536_HUMAN	V	667	ENSP00000347730:G667V	ENSP00000347730:G667V	G	+	2	0	ZNF536	35628309	1.000000	0.71417	0.939000	0.37840	0.788000	0.44548	5.137000	0.64789	1.207000	0.43291	0.655000	0.94253	GGC		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		14	29	1	0	1.36491e-13	0.001855	2.38371e-13	14	29				
ZNF536	9745	broad.mit.edu	37	19	31039909	31039909	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:31039909G>T	ENST00000355537.3	+	4	3530	c.3383G>T	c.(3382-3384)aGt>aTt	p.S1128I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1128					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGCCTCCAGTTCCTGCCCC	0.547																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3382-3384)AGT>ATT		zinc finger protein 536							68.0	70.0	69.0					19																	31039909		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039909G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3383G>T	19.37:g.31039909G>T	ENSP00000347730:p.Ser1128Ile					ZNF536_uc010edd.1_Missense_Mutation_p.S1128I	p.S1128I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3521	+	Esophageal squamous(110;0.0834)		1128					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3383G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117648	0.20877	.	.	ENSG00000198597	ENST00000355537	T	0.08370	3.1	4.75	2.54	0.30619	.	0.708914	0.14887	N	0.292644	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.27500	0.08;0.075	T	0.34875	-0.9811	10	0.66056	D	0.02	-3.1437	2.6793	0.05089	0.264:0.2856:0.4504:0.0	.	1128;1128	A7E228;O15090	.;ZN536_HUMAN	I	1128	ENSP00000347730:S1128I	ENSP00000347730:S1128I	S	+	2	0	ZNF536	35731749	0.001000	0.12720	0.006000	0.13384	0.583000	0.36354	0.974000	0.29436	1.230000	0.43646	0.655000	0.94253	AGT		0.547	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		14	38	1	0	3.27435e-08	0.00245	4.84835e-08	14	38				
KIRREL2	84063	broad.mit.edu	37	19	36353928	36353928	+	Missense_Mutation	SNP	G	G	T	rs199552023	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:36353928G>T	ENST00000360202.5	+	13	1913	c.1715G>T	c.(1714-1716)cGc>cTc	p.R572L	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R572L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R537L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R522L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	572					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			ACAGGCAGCCGCGAGGACCGG	0.577																																							uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1714-1716)CGC>CTC		kin of IRRE-like 2 isoform c							23.0	25.0	24.0					19																	36353928		2201	4296	6497	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36353928G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1715G>T	19.37:g.36353928G>T	ENSP00000353331:p.Arg572Leu					KIRREL2_uc002obz.3_Missense_Mutation_p.R572L|KIRREL2_uc002oca.3_Missense_Mutation_p.R522L|KIRREL2_uc002occ.3_Missense_Mutation_p.R519L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R534L	p.R572L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		13	1927	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		572			Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1715G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	3.882	-0.025845	0.07589	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.66280	-0.2;0.03;-0.17	4.98	2.79	0.32731	.	1.109460	0.07063	N	0.834093	T	0.41236	0.1150	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14012	0.002;0.002;0.002;0.009;0.009	B;B;B;B;B	0.17098	0.005;0.006;0.005;0.017;0.01	T	0.31503	-0.9941	10	0.51188	T	0.08	0.7802	5.2743	0.15641	0.1036:0.0:0.6925:0.2039	.	572;552;572;522;572	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	L	572;522;572;552;83	ENSP00000262625:R572L;ENSP00000345067:R522L;ENSP00000353331:R572L	ENSP00000262625:R572L	R	+	2	0	KIRREL2	41045768	0.001000	0.12720	0.002000	0.10522	0.046000	0.14306	1.008000	0.29872	1.059000	0.40554	0.561000	0.74099	CGC		0.577	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		3	12	1	0	6.4e-05	0.004672	8.03467e-05	3	12				
ZNF566	84924	broad.mit.edu	37	19	36940320	36940320	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:36940320T>C	ENST00000434377.2	-	5	897	c.816A>G	c.(814-816)cgA>cgG	p.R272R	ZNF566_ENST00000454319.1_Silent_p.R273R|ZNF566_ENST00000392170.2_Silent_p.R273R|ZNF566_ENST00000493391.1_Silent_p.R168R|ZNF566_ENST00000424129.2_Silent_p.R272R	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	272					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(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TTCTCTGATGTCGAGTGAAGT	0.423																																							uc002oea.3		NA																	0					0						c.(814-816)CGA>CGG		zinc finger protein 566 isoform 1							89.0	88.0	88.0					19																	36940320		2203	4300	6503	SO:0001819	synonymous_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940320T>C	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.816A>G	19.37:g.36940320T>C						ZNF566_uc010xte.1_Silent_p.R272R|ZNF566_uc010xtf.1_Silent_p.R273R|ZNF566_uc002oeb.3_Silent_p.R272R|ZNF566_uc002oec.3_Silent_p.R168R|ZNF566_uc010xtg.1_Silent_p.R168R	p.R272R	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	898	-	Esophageal squamous(110;0.162)		272			C2H2-type 4.		B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	c.816A>G	CCDS12494.1																																																																																				0.423	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		10	65	0	0	0	0.008291	0	10	65				
HKR1	284459	broad.mit.edu	37	19	37854289	37854289	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:37854289G>T	ENST00000324411.4	+	6	1861	c.1592G>T	c.(1591-1593)gGa>gTa	p.G531V	HKR1_ENST00000392153.3_Missense_Mutation_p.G512V|HKR1_ENST00000589392.1_Missense_Mutation_p.G513V|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.G470V|HKR1_ENST00000591471.1_Missense_Mutation_p.G258V|HKR1_ENST00000544914.1_Missense_Mutation_p.G258V	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	531					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGTGTGGACGAGGCTTT	0.522																																							uc002ogb.2		NA																	0				ovary(2)	2						c.(1591-1593)GGA>GTA		GLI-Kruppel family member HKR1							70.0	64.0	66.0					19																	37854289		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854289G>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1592G>T	19.37:g.37854289G>T	ENSP00000315505:p.Gly531Val					HKR1_uc002ofx.2_Missense_Mutation_p.G247V|HKR1_uc002ofy.2_Missense_Mutation_p.G247V|HKR1_uc002oga.2_Missense_Mutation_p.G513V|HKR1_uc010xto.1_Missense_Mutation_p.G513V|HKR1_uc002ogc.2_Missense_Mutation_p.G512V|HKR1_uc010xtp.1_Missense_Mutation_p.G470V|HKR1_uc002ogd.2_Missense_Mutation_p.G470V	p.G531V	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1861	+			531			C2H2-type 9.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.1592G>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442323	0.43326	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.23754	1.97;1.89;1.89;1.89	2.58	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59473	0.2196	H	0.97682	4.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;P	0.91635	0.989;0.999;0.996;0.871	T	0.62205	-0.6903	9	0.87932	D	0	-4.2727	6.3601	0.21422	0.2643:0.0:0.7357:0.0	.	470;512;531;513	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	V	258;310;512;567;531;470	ENSP00000437774:G258V;ENSP00000375994:G512V;ENSP00000315505:G531V;ENSP00000438261:G470V	ENSP00000315505:G531V	G	+	2	0	HKR1	42546129	0.988000	0.35896	0.938000	0.37757	0.857000	0.48899	1.907000	0.39897	0.649000	0.30751	0.650000	0.86243	GGA		0.522	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		20	47	1	0	1.9806e-07	0.002299	2.84182e-07	20	47				
FAM98C	147965	broad.mit.edu	37	19	38899419	38899419	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:38899419G>T	ENST00000252530.5	+	8	966	c.947G>T	c.(946-948)gGg>gTg	p.G316V	FAM98C_ENST00000588262.1_Silent_p.G182G|FAM98C_ENST00000343358.7_Missense_Mutation_p.G234V	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	316										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGACCGGGGGGGCCGCCCA	0.557																																							uc002oin.1		NA																	0				skin(1)	1						c.(946-948)GGG>GTG		hypothetical protein LOC147965							58.0	62.0	61.0					19																	38899419		1830	4072	5902	SO:0001583	missense	147965							g.chr19:38899419G>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.947G>T	19.37:g.38899419G>T	ENSP00000252530:p.Gly316Val					FAM98C_uc002oio.1_Missense_Mutation_p.G234V|FAM98C_uc010xtz.1_Silent_p.G182G	p.G316V	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	966	+	all_cancers(60;3.95e-06)		316					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.947G>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433194	0.83776	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.80033	-1.33;-1.33	5.92	5.92	0.95590	.	1.530620	0.04080	N	0.309534	D	0.92958	0.7759	M	0.86651	2.83	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83111	-0.0123	10	0.87932	D	0	-11.3927	17.8152	0.88630	0.0:0.0:1.0:0.0	.	234;316	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	V	316;234	ENSP00000252530:G316V;ENSP00000340348:G234V	ENSP00000252530:G316V	G	+	2	0	FAM98C	43591259	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	6.303000	0.72794	2.804000	0.96469	0.655000	0.94253	GGG		0.557	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		10	82	1	0	2.17888e-05	0.006214	2.81911e-05	10	82				
ACP7	390928	broad.mit.edu	37	19	39591247	39591247	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39591247C>A	ENST00000331256.5	+	6	931	c.657C>A	c.(655-657)ttC>ttA	p.F219L	PAPL_ENST00000594229.1_Nonsense_Mutation_p.S178*	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		219						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGGCTCGCTTCAGCATGCCGG	0.557																																							uc002oki.2		NA																	0					0						c.(655-657)TTC>TTA		iron/zinc purple acid phosphatase-like protein							117.0	120.0	119.0					19																	39591247		2203	4300	6503	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591247C>A																												ENST00000331256.5:c.657C>A	19.37:g.39591247C>A	ENSP00000327557:p.Phe219Leu					PAPL_uc010egl.2_Nonsense_Mutation_p.S178*	p.F219L	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			6	931	+			219					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.657C>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144479	0.77888	.	.	ENSG00000183760	ENST00000331256	D	0.83914	-1.78	5.06	2.92	0.33932	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.91948	0.7450	H	0.94423	3.535	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.90671	0.4598	10	0.87932	D	0	-37.9379	7.4852	0.27427	0.0:0.7376:0.0:0.2624	.	219	Q6ZNF0	PAPL_HUMAN	L	219	ENSP00000327557:F219L	ENSP00000327557:F219L	F	+	3	2	AC011443.1	44283087	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	1.941000	0.40233	0.623000	0.30267	0.563000	0.77884	TTC		0.557	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			29	98	1	0	6.19805e-25	0.005524	1.21696e-24	29	98				
RPS16	6217	broad.mit.edu	37	19	39924008	39924010	+	Missense_Mutation	TNP	CAT	CAT	ATA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39924008_39924010CAT>ATA	ENST00000251453.3	-	5	396_398	c.344_346ATG>TAT	c.(343-348)tATGac>tTATac	p.115_116YD>LY	RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000601655.1_Missense_Mutation_p.98_99YD>LY|RPS16_ENST00000339471.4_Missense_Mutation_p.M147Y	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	115					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)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	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;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCGGTCATACTGGATGAG	0.537																																							uc002olk.2		NA																	0				skin(1)	1						c.(343-348)TATGAC>TTATAC		ribosomal protein S16																																				SO:0001583	missense	6217				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:39924008_39924010CAT>ATA	M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"""S ribosomal proteins"""	10396	protein-coding gene	gene with protein product	"""40S ribosomal protein S16"""	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.344_346ATG>TAT	19.37:g.39924008CAT>ATA	ENSP00000251453:p.Y115_D116delinsLY					RPS16_uc002oll.2_Missense_Mutation_p.98_99YD>LY|RPS16_uc002olm.2_Missense_Mutation_p.M147Y	p.115_116YD>LY	NM_001020	NP_001011	P62249	RS16_HUMAN	Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	427_429	-	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)		115_116					B2RDD5|P17008	Missense_Mutation	TNP	ENST00000251453.3	37	c.344_346ATG>TAT	CCDS12535.1																																																																																				0.537	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464511.1	NM_001020		10	55	0	0	0	0.004672	0	10	55				
CYP2B7P	1556	broad.mit.edu	37	19	41445035	41445035	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:41445035G>T	ENST00000599198.1	+	0	699					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ATCCAGCCAGGTCCAGGAGAG	0.507																																							uc010ehg.1		NA																	0				ovary(1)|skin(1)	2						c.(646-648)GTC>TTC		SubName: Full=Cytochrome P450 2B7 short isoform; SubName: Full=CYP2B protein;																																						1556							g.chr19:41445035G>T																													19.37:g.41445035G>T						CYP2A7_uc002opo.2_Intron|CYP2B7P1_uc010ehh.1_Splice_Site_p.Q215_splice|CYP2B7P1_uc002opq.2_Splice_Site	p.V216F							4	654	+									Missense_Mutation	SNP	ENST00000599198.1	37	c.646G>T		.	.	.	.	.	.	.	.	.	.	G	12.43	1.935419	0.34189	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0216	0.42046	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC008537.4	46136875	.	.	0.974000	0.42286	0.047000	0.14425	.	.	1.784000	0.52394	0.400000	0.26472	.		0.507	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			5	23	1	0	3.59834e-05	0.001168	4.57629e-05	5	23				
CEACAM4	1089	broad.mit.edu	37	19	42131976	42131976	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42131976G>T	ENST00000221954.2	-	2	533	c.423C>A	c.(421-423)caC>caA	p.H141Q	CEACAM4_ENST00000600925.1_Splice_Site_p.H141Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	141						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ATCACTCACGGTGTACGTGGA	0.552																																							uc002orh.1		NA																	0					0						c.(421-423)CAC>CAA		carcinoembryonic antigen-related cell adhesion							175.0	150.0	159.0					19																	42131976		2203	4300	6503	SO:0001630	splice_region_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42131976G>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.424+1C>A	19.37:g.42131976G>T						CEACAM4_uc010xwd.1_Missense_Mutation_p.H141Q	p.H141Q	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	534	-			141			Extracellular (Potential).		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.423C>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793350	0.16327	.	.	ENSG00000105352	ENST00000221954	T	0.01113	5.32	1.82	0.742	0.18341	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	1	B;P	0.42993	0.179;0.797	B;B	0.41036	0.027;0.346	T	0.50759	-0.8790	9	0.52906	T	0.07	.	4.2332	0.10613	0.2177:0.0:0.7823:0.0	.	141;141	E7EMX3;O75871	.;CEAM4_HUMAN	Q	141	ENSP00000221954:H141Q	ENSP00000221954:H141Q	H	-	3	2	CEACAM4	46823816	0.001000	0.12720	0.016000	0.15963	0.025000	0.11179	0.932000	0.28884	0.315000	0.23110	0.313000	0.20887	CAC		0.552	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	Missense_Mutation	24	108	1	0	7.92952e-12	0.003954	1.32951e-11	24	108				
ZNF574	64763	broad.mit.edu	37	19	42584394	42584394	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42584394A>T	ENST00000600245.1	+	2	2291	c.1636A>T	c.(1636-1638)Aca>Tca	p.T546S	ZNF574_ENST00000359044.4_Missense_Mutation_p.T546S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.T636S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	546					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(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCTCACACACACAGGAGAGCG	0.652																																							uc002osm.3		NA																	0					0						c.(1636-1638)ACA>TCA		zinc finger protein 574							96.0	108.0	104.0					19																	42584394		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584394A>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1636A>T	19.37:g.42584394A>T	ENSP00000469029:p.Thr546Ser					ZNF574_uc002osk.3_Missense_Mutation_p.T636S	p.T546S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1805	+		Prostate(69;0.059)	546					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1636A>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761325	0.49468	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.24151	1.87;1.87	5.18	5.18	0.71444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073652	0.53938	D	0.000042	T	0.28466	0.0704	L	0.41079	1.255	0.41765	D	0.989733	P;P	0.46784	0.788;0.884	P;P	0.46253	0.449;0.509	T	0.03413	-1.1039	10	0.52906	T	0.07	-10.486	14.0101	0.64490	1.0:0.0:0.0:0.0	.	546;635	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	636;546;153	ENSP00000222339:T636S;ENSP00000351939:T546S	ENSP00000222339:T636S	T	+	1	0	ZNF574	47276234	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	4.983000	0.63832	1.958000	0.56883	0.528000	0.53228	ACA		0.652	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		29	102	0	0	0	0.00632	0	29	102				
MEGF8	1954	broad.mit.edu	37	19	42855448	42855448	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42855448C>T	ENST00000251268.6	+	16	2817	c.2817C>T	c.(2815-2817)gcC>gcT	p.A939A	MEGF8_ENST00000334370.4_Silent_p.A872A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	939	PSI 3.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTCGGGGTGCCCTGAAGAGTC	0.677																																							uc002otl.3		NA																	0				ovary(1)	1						c.(2614-2616)GCC>GCT		multiple EGF-like-domains 8							14.0	17.0	16.0					19																	42855448		2183	4276	6459	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42855448C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2817C>T	19.37:g.42855448C>T						MEGF8_uc002otm.3_Silent_p.A480A	p.A872A	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			15	3251	+		Prostate(69;0.00682)	939			Extracellular (Potential).|PSI 3.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2616C>T																																																																																					0.677	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	7	0	0	0	0.000602	0	4	7				
ZNF223	7766	broad.mit.edu	37	19	44570336	44570336	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:44570336A>G	ENST00000434772.3	+	5	610	c.355A>G	c.(355-357)Ata>Gta	p.I119V	ZNF223_ENST00000591793.1_Missense_Mutation_p.I229V	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	119					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(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGACTCTACCATAAAGAGCTC	0.473																																							uc002oyf.1		NA																	0				ovary(1)	1						c.(355-357)ATA>GTA		zinc finger protein 223							80.0	71.0	74.0					19																	44570336		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570336A>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.355A>G	19.37:g.44570336A>G	ENSP00000401947:p.Ile119Val					ZNF284_uc010ejd.2_RNA	p.I119V	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	608	+		Prostate(69;0.0352)	119					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.355A>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	A	0.852	-0.738312	0.03111	.	.	ENSG00000178386	ENST00000434772	T	0.04406	3.63	2.7	-2.32	0.06745	.	.	.	.	.	T	0.04048	0.0113	L	0.50333	1.59	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.47222	-0.9134	9	0.16896	T	0.51	.	3.6709	0.08273	0.3158:0.2362:0.448:0.0	.	119	Q9UK11	ZN223_HUMAN	V	119	ENSP00000401947:I119V	ENSP00000401947:I119V	I	+	1	0	ZNF223	49262176	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.264000	0.18497	-0.227000	0.09884	0.260000	0.18958	ATA		0.473	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			21	48	0	0	0	0.001523	0	21	48				
ZNF226	7769	broad.mit.edu	37	19	44679961	44679961	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:44679961G>C	ENST00000590089.1	+	7	913	c.546G>C	c.(544-546)caG>caC	p.Q182H	ZNF226_ENST00000337433.5_Missense_Mutation_p.Q182H|ZNF226_ENST00000454662.2_Missense_Mutation_p.Q182H|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	182					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)						Prostate(69;0.0352)|all_neural(266;0.202)				CTGAGTCACAGAGATTGAACA	0.378																																					Pancreas(115;581 1665 13228 19278 50070)	Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NA																	0					0						c.(544-546)CAG>CAC		zinc finger protein 226 isoform a							32.0	32.0	32.0					19																	44679961		1818	4076	5894	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44679961G>C	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.546G>C	19.37:g.44679961G>C	ENSP00000465121:p.Gln182His					ZNF226_uc002oyq.2_Missense_Mutation_p.Q65H|ZNF226_uc002oyr.2_Missense_Mutation_p.Q65H|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.Q182H|ZNF226_uc002oyt.2_Missense_Mutation_p.Q182H	p.Q182H	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	690	+		Prostate(69;0.0352)|all_neural(266;0.202)	182					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.546G>C	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791454	0.16258	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07800	3.16;3.16	3.72	1.52	0.23074	.	.	.	.	.	T	0.07728	0.0194	L	0.28400	0.85	0.09310	N	1	P	0.50943	0.94	P	0.46975	0.533	T	0.30327	-0.9982	9	0.41790	T	0.15	.	5.2797	0.15668	0.3902:0.0:0.6098:0.0	.	182	Q9NYT6	ZN226_HUMAN	H	182	ENSP00000336719:Q182H;ENSP00000393265:Q182H	ENSP00000336719:Q182H	Q	+	3	2	ZNF226	49371801	0.003000	0.15002	0.087000	0.20705	0.097000	0.18754	0.653000	0.24902	0.514000	0.28300	0.655000	0.94253	CAG		0.378	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			8	28	0	0	0	0.004482	0	8	28				
ELSPBP1	64100	broad.mit.edu	37	19	48511980	48511980	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:48511980A>G	ENST00000339841.2	+	2	234	c.56A>G	c.(55-57)tAt>tGt	p.Y19C	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.Y19C	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	19					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTCTATTCCTATGAGTCAAGT	0.453																																							uc002pht.2		NA																	0					0						c.(55-57)TAT>TGT		epididymal sperm binding protein 1 precursor							97.0	76.0	83.0					19																	48511980		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48511980A>G	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.56A>G	19.37:g.48511980A>G	ENSP00000340660:p.Tyr19Cys						p.Y19C	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	2	211	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	19					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.56A>G	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	a	6.784	0.513632	0.12944	.	.	ENSG00000169393	ENST00000339841	T	0.34859	1.34	2.27	-3.28	0.05033	.	1.141800	0.06878	N	0.802058	T	0.29783	0.0744	M	0.65498	2.005	0.09310	N	1	P	0.43352	0.804	B	0.36959	0.237	T	0.20405	-1.0276	10	0.42905	T	0.14	.	4.4055	0.11407	0.3331:0.2084:0.4586:0.0	.	19	Q96BH3	ESPB1_HUMAN	C	19	ENSP00000340660:Y19C	ENSP00000340660:Y19C	Y	+	2	0	ELSPBP1	53203792	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-2.156000	0.01283	-1.012000	0.03387	0.416000	0.27883	TAT		0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			8	23	0	0	0	0.006214	0	8	23				
MED25	81857	broad.mit.edu	37	19	50332242	50332242	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:50332242G>T	ENST00000312865.6	+	5	473	c.420G>T	c.(418-420)cgG>cgT	p.R140R	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	140	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGACGCACCGGGTCTGCCTCC	0.562																																					GBM(51;894 1657 37868)	GBM(51;894 1657 37868)	uc002ppw.1		NA																	0				ovary(1)	1						c.(418-420)CGG>CGT		mediator complex subunit 25							84.0	65.0	71.0					19																	50332242		2203	4300	6503	SO:0001819	synonymous_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50332242G>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.420G>T	19.37:g.50332242G>T						MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank	p.R140R	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	5	473	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	140			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	c.420G>T	CCDS33075.1																																																																																				0.562	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		6	25	1	0	2.0095e-06	0.001984	2.76512e-06	6	25				
CLEC11A	6320	broad.mit.edu	37	19	51228646	51228646	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51228646G>T	ENST00000250340.4	+	4	1091	c.894G>T	c.(892-894)gcG>gcT	p.A298A	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A315S	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	298	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCGTGGCGCAGGCCTCTG	0.721																																							uc002psy.2		NA																	0				ovary(1)	1						c.(892-894)GCG>GCT		stem cell growth factor precursor							17.0	16.0	16.0					19																	51228646		2179	4256	6435	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51228646G>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.894G>T	19.37:g.51228646G>T							p.A298A	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	1072	+		all_neural(266;0.057)	298			C-type lectin.		B2RAD4	Silent	SNP	ENST00000250340.4	37	c.894G>T	CCDS12800.1																																																																																				0.721	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		8	15	1	0	0.000673444	0.008291	0.000798266	8	15				
SIGLEC10	89790	broad.mit.edu	37	19	51920552	51920552	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51920552T>C	ENST00000339313.5	-	2	321	c.205A>G	c.(205-207)Aag>Gag	p.K69E	CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.K69E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K69E|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K69E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K69E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.K69E|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.K69E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K69E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.K69E			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	69	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAGCACCCTTGGTTGTCTCA	0.592																																							uc002pwo.2		NA																	0				skin(1)	1						c.(205-207)AAG>GAG		sialic acid binding Ig-like lectin 10 precursor							62.0	54.0	57.0					19																	51920552		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920552T>C	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.205A>G	19.37:g.51920552T>C	ENSP00000345243:p.Lys69Glu					SIGLEC10_uc002pwp.2_Missense_Mutation_p.K69E|SIGLEC10_uc002pwq.2_Missense_Mutation_p.K69E|SIGLEC10_uc002pwr.2_Missense_Mutation_p.K69E|SIGLEC10_uc010ycy.1_Missense_Mutation_p.K69E|SIGLEC10_uc010ycz.1_Missense_Mutation_p.K69E|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.K53E	p.K69E	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	821	-		all_neural(266;0.0199)	69			Extracellular (Potential).|Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.205A>G	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	5.379	0.255186	0.10185	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.74	-6.97	0.01616	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	7.977890	0.00166	N	0.000000	T	0.35799	0.0944	N	0.10837	0.055	0.09310	N	1	B;B;B;B;B;B;B	0.22683	0.002;0.073;0.001;0.011;0.011;0.0;0.002	B;B;B;B;B;B;B	0.25987	0.017;0.065;0.002;0.021;0.021;0.002;0.012	T	0.46871	-0.9160	10	0.05351	T	0.99	.	0.8557	0.01182	0.2184:0.1672:0.329:0.2854	.	69;69;69;69;69;69;69	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	E	69;69;69;69;69;69;69;69;69;36	ENSP00000342389:K69E;ENSP00000396742:K69E;ENSP00000395475:K69E;ENSP00000348646:K69E;ENSP00000408387:K69E;ENSP00000431444:K69E;ENSP00000389132:K69E;ENSP00000414324:K69E;ENSP00000345243:K69E;ENSP00000433838:K36E	ENSP00000345243:K69E	K	-	1	0	SIGLEC10	56612364	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.756000	0.00789	-1.541000	0.01727	-0.736000	0.03550	AAG		0.592	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		19	43	0	0	0	0.007413	0	19	43				
CEACAM18	729767	broad.mit.edu	37	19	51983926	51983926	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51983926A>T	ENST00000396477.4	+	2	413	c.392A>T	c.(391-393)gAg>gTg	p.E131V	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E192V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	131										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGCTGGAGGTTCTAGGT	0.532																																							uc002pwv.1		NA																	0				skin(1)	1						c.(574-576)GAG>GTG		carcinoembryonic antigen-related cell adhesion							60.0	60.0	60.0					19																	51983926		1955	4140	6095	SO:0001583	missense	729767					integral to membrane		g.chr19:51983926A>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.392A>T	19.37:g.51983926A>T	ENSP00000379738:p.Glu131Val						p.E192V	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	575	+		all_neural(266;0.0529)	192					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.575A>T		.	.	.	.	.	.	.	.	.	.	.	11.09	1.536158	0.27475	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.01505	4.82	2.82	1.79	0.24919	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04407	0.0121	L	0.57536	1.79	0.09310	N	1	P	0.38745	0.645	P	0.52710	0.707	T	0.40079	-0.9582	9	0.27082	T	0.32	-6.3463	4.5473	0.12087	0.8437:0.0:0.1563:0.0	.	192	A8MTB9	CEA18_HUMAN	V	192;131;131	ENSP00000402203:E192V	ENSP00000379738:E131V	E	+	2	0	CEACAM18	56675738	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.054000	0.14205	0.521000	0.28445	0.529000	0.55759	GAG		0.532	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			8	36	0	0	0	0.006214	0	8	36				
ZNF480	147657	broad.mit.edu	37	19	52825580	52825580	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:52825580A>G	ENST00000595962.1	+	5	1143	c.1077A>G	c.(1075-1077)gtA>gtG	p.V359V	ZNF480_ENST00000334564.7_Silent_p.V316V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.V282V|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CGCTCCTTGTACGACATCAGA	0.378																																							uc010ydl.1		NA																	0				large_intestine(1)	1						c.(1075-1077)GTA>GTG		zinc finger protein 480							57.0	61.0	60.0					19																	52825580		2203	4300	6503	SO:0001819	synonymous_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825580A>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1077A>G	19.37:g.52825580A>G						ZNF480_uc002pyv.2_Silent_p.V282V|ZNF480_uc010ydm.1_Silent_p.V316V|ZNF480_uc010epn.2_Silent_p.V190V|uc002pyw.1_Intron	p.V359V	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1147	+			359			C2H2-type 6.		Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	c.1077A>G	CCDS12850.2																																																																																				0.378	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		8	66	0	0	0	0.00308	0	8	66				
ZNF665	79788	broad.mit.edu	37	19	53668312	53668312	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:53668312C>A	ENST00000600412.1	-	2	1351	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.R477R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGAATTCCCCGATGACTTG	0.428																																							uc010eqm.1		NA																	0				ovary(2)	2						c.(1429-1431)CGG>CGT		zinc finger protein 665							85.0	88.0	87.0					19																	53668312		2203	4300	6503	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668312C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1236G>T	19.37:g.53668312C>A							p.R477R	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1531	-			412			C2H2-type 11.		A8K5T8	Silent	SNP	ENST00000600412.1	37	c.1431G>T																																																																																					0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		15	88	1	0	4.93089e-13	0.00245	8.53375e-13	15	88				
CACNG7	59284	broad.mit.edu	37	19	54444782	54444782	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54444782G>T	ENST00000391767.1	+	5	695	c.483G>T	c.(481-483)atG>atT	p.M161I	CACNG7_ENST00000391766.1_Missense_Mutation_p.M161I|CACNG7_ENST00000222212.2_Missense_Mutation_p.M161I|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	161					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGAGGTCATGAACAGGCCCA	0.562																																							uc002qcr.1		NA																	0				ovary(1)	1						c.(481-483)ATG>ATT		voltage-dependent calcium channel gamma-7							161.0	136.0	145.0					19																	54444782		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444782G>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.483G>T	19.37:g.54444782G>T	ENSP00000375647:p.Met161Ile					CACNG7_uc010era.1_Missense_Mutation_p.M161I	p.M161I	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	498	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		161					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.483G>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704692	0.48412	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88431	-2.38;-2.38;-2.38	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	L	0.29908	0.895	0.80722	D	1	B	0.29646	0.253	B	0.33960	0.173	T	0.82184	-0.0583	10	0.36615	T	0.2	-29.7145	15.4355	0.75143	0.0:0.0:1.0:0.0	.	161	P62955	CCG7_HUMAN	I	161	ENSP00000375647:M161I;ENSP00000222212:M161I;ENSP00000375646:M161I	ENSP00000222212:M161I	M	+	3	0	CACNG7	59136594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.135000	0.57997	2.323000	0.78572	0.462000	0.41574	ATG		0.562	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			12	97	1	0	2.68362e-12	0.001368	4.52208e-12	12	97				
LILRB2	10288	broad.mit.edu	37	19	54783326	54783326	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54783326G>T	ENST00000391749.4	-	5	803	c.532C>A	c.(532-534)Cgc>Agc	p.R178S	LILRB2_ENST00000434421.1_Missense_Mutation_p.R62S|LILRB2_ENST00000391748.1_Missense_Mutation_p.R178S|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.R178S|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000314446.5_Missense_Mutation_p.R178S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	178	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGATGGCGCGGGACGACCCA	0.577																																							uc002qfb.2		NA																	0				skin(1)	1						c.(532-534)CGC>AGC		leukocyte immunoglobulin-like receptor,							108.0	104.0	105.0					19																	54783326		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783326G>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.532C>A	19.37:g.54783326G>T	ENSP00000375629:p.Arg178Ser					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.R178S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R178S|LILRB2_uc010yet.1_Missense_Mutation_p.R62S|LILRB2_uc010yeu.1_RNA	p.R178S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	798	-	Ovarian(34;0.19)		178			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.532C>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386573	0.25031	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.02763	4.17;4.17;4.17;4.17;4.17	2.58	-5.16	0.02857	Immunoglobulin-like fold (1);	0.919034	0.08834	U	0.886850	T	0.03651	0.0104	L	0.58302	1.8	0.09310	N	1	P;P;P	0.39157	0.625;0.484;0.662	B;B;B	0.43658	0.426;0.244;0.244	T	0.29305	-1.0016	10	0.87932	D	0	.	0.436	0.00479	0.3707:0.1838:0.2603:0.1853	.	178;195;178	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	S	178;178;178;178;62	ENSP00000375628:R178S;ENSP00000319960:R178S;ENSP00000375629:R178S;ENSP00000375626:R178S;ENSP00000410117:R62S	ENSP00000319960:R178S	R	-	1	0	LILRB2	59475138	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.040000	0.03546	-0.743000	0.04784	-0.365000	0.07479	CGC		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			24	90	1	0	7.87624e-14	0.00278	1.38634e-13	24	90				
LILRA3	11026	broad.mit.edu	37	19	54803141	54803141	+	Missense_Mutation	SNP	C	C	T	rs147561158	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54803141C>T	ENST00000251390.3	-	4	627	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.R196Q	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	179	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGATGGCCCGGGATGACCC	0.567													.|||	5	0.000998403	0.0038	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.0						uc002qfd.2		NA																	0				ovary(1)	1						c.(535-537)CGG>CAG		leukocyte immunoglobulin-like receptor,		C	,GLN/ARG	25,4365		1,23,2171	139.0	115.0	123.0		,536	-0.2	0.0	19	dbSNP_134	123	0,8332		0,0,4166	yes	intron,missense	LILRA3	NM_001172654.1,NM_006865.3	,43	1,23,6337	TT,TC,CC		0.0,0.5695,0.1965	,	,179/440	54803141	25,12697	2195	4166	6361	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803141C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.536G>A	19.37:g.54803141C>T	ENSP00000251390:p.Arg179Gln					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	p.R179Q	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	601	-	Ovarian(34;0.19)		179			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.536G>A	CCDS12887.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.015	-1.559568	0.00910	0.005695	0.0	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.02890	4.12;4.12	2.07	-0.183	0.13284	Immunoglobulin-like fold (1);	0.611757	0.12604	N	0.454468	T	0.00695	0.0023	N	0.02391	-0.57	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46693	-0.9173	10	0.02654	T	1	.	4.3936	0.11351	0.0:0.4019:0.0:0.5981	.	179	Q8N6C8	LIRA3_HUMAN	Q	179;196	ENSP00000251390:R179Q;ENSP00000375625:R196Q	ENSP00000251390:R179Q	R	-	2	0	LILRA3	59494953	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.534000	0.06150	-0.089000	0.12484	-0.350000	0.07774	CGG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			16	101	0	0	0	0.004007	0	16	101				
LILRA2	11027	broad.mit.edu	37	19	55085572	55085572	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55085572C>A	ENST00000251377.3	+	3	197	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	LILRB1_ENST00000418536.2_Missense_Mutation_p.Q22K|LILRA2_ENST00000251376.3_Missense_Mutation_p.Q22K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q22K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q22K|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q22K|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	22					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GACCCACGTGCAGGCAGGTGA	0.632																																							uc002qgg.3		NA																	0				ovary(1)	1						c.(64-66)CAG>AAG		leukocyte immunoglobulin-like receptor,							72.0	79.0	77.0					19																	55085572		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085572C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.64C>A	19.37:g.55085572C>A	ENSP00000251377:p.Gln22Lys					LILRA2_uc010ern.2_Missense_Mutation_p.Q22K|LILRA2_uc002qgf.2_Missense_Mutation_p.Q22K|LILRA2_uc010yfe.1_Missense_Mutation_p.Q22K|LILRA2_uc010yff.1_Intron|LILRA2_uc010ero.2_Intron|LILRA2_uc010yfg.1_Missense_Mutation_p.Q22K	p.Q22K	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	2	153	+			22					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.64C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279082	0.59758	.	.	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T	0.00515	7.05;6.93;6.93;6.87;7.0;7.03;6.88	2.93	2.93	0.34026	Immunoglobulin-like fold (1);	0.641200	0.13084	N	0.415119	T	0.01320	0.0043	M	0.91038	3.17	0.26833	N	0.968531	P;P;B;P	0.47350	0.803;0.803;0.269;0.894	B;B;B;P	0.52031	0.19;0.206;0.155;0.688	T	0.36504	-0.9745	10	0.18710	T	0.47	.	9.5407	0.39251	0.0:1.0:0.0:0.0	.	22;22;22;22	Q99702;E9PDF4;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	22	ENSP00000388131:Q22K;ENSP00000251377:Q22K;ENSP00000375618:Q22K;ENSP00000251376:Q22K;ENSP00000379614:Q22K;ENSP00000391514:Q22K;ENSP00000409968:Q22K	ENSP00000251376:Q22K	Q	+	1	0	LILRB1;LILRA2	59777384	0.020000	0.18652	0.107000	0.21349	0.576000	0.36127	0.770000	0.26618	1.671000	0.50874	0.558000	0.71614	CAG		0.632	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			19	68	1	0	1.50039e-11	0.001882	2.49693e-11	19	68				
KIR3DL1	3811	broad.mit.edu	37	19	55316358	55316358	+	Intron	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55316358T>C	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.Y61H|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.Y63H|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.Y63H|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.Y63H			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTTCACGCTGTACAAGAAAGA	0.547																																							uc010yfm.1		NA																	0				ovary(1)	1						c.(187-189)TAC>CAC		killer cell immunoglobulin-like receptor, two							99.0	90.0	93.0					19																	55316358		2123	3826	5949	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity	g.chr19:55316358T>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-12631T>C	19.37:g.55316358T>C						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.Y58H|KIR2DL4_uc002qhg.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhi.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.Y63H|KIR2DL4_uc010ese.2_5'Flank	p.Y63H	NM_002255	NP_002246	Q99706	KI2L4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	227	+			63			Ig-like C2-type 1.|Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.187T>C		.	.	.	.	.	.	.	.	.	.	T	0.005	-2.200899	0.00296	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	1.42	-1.41	0.08941	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.585904	0.12900	U	0.429868	T	0.10337	0.0253	L	0.53249	1.67	0.09310	N	1	B;B;B;B;B;B	0.22851	0.015;0.014;0.076;0.032;0.011;0.011	B;B;B;B;B;B	0.30782	0.106;0.065;0.065;0.12;0.039;0.024	T	0.45833	-0.9234	10	0.02654	T	1	.	5.7201	0.17982	0.0:0.0:0.5811:0.4189	.	63;61;63;63;63;63	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3	KI2L4_HUMAN;.;.;.;.;.	H	61;63;63;63;61	ENSP00000379580:Y61H;ENSP00000351988:Y63H;ENSP00000339634:Y63H;ENSP00000350088:Y63H;ENSP00000379584:Y61H	ENSP00000339634:Y63H	Y	+	1	0	KIR2DL4	60008170	0.023000	0.18921	0.001000	0.08648	0.036000	0.12997	-0.125000	0.10579	-0.497000	0.06641	0.172000	0.16884	TAC		0.547	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		15	41	0	0	0	0.006122	0	15	41				
NCR1	9437	broad.mit.edu	37	19	55421391	55421391	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55421391C>G	ENST00000291890.4	+	5	686	c.648C>G	c.(646-648)aaC>aaG	p.N216K	NCR1_ENST00000338835.5_Missense_Mutation_p.N216K|NCR1_ENST00000350790.5_Missense_Mutation_p.N121K|NCR1_ENST00000447255.1_Missense_Mutation_p.N216K|NCR1_ENST00000594765.1_Missense_Mutation_p.N216K|NCR1_ENST00000598576.1_Missense_Mutation_p.N204K|NCR1_ENST00000357397.5_Missense_Mutation_p.N109K	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	216					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACATTGAGAACACCAGCCTTG	0.433																																							uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(646-648)AAC>AAG		natural cytotoxicity triggering receptor 1							190.0	192.0	191.0					19																	55421391		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421391C>G	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.648C>G	19.37:g.55421391C>G	ENSP00000291890:p.Asn216Lys					NCR1_uc002qic.2_Missense_Mutation_p.N216K|NCR1_uc002qie.2_Missense_Mutation_p.N216K|NCR1_uc002qid.2_Missense_Mutation_p.N121K|NCR1_uc002qif.2_Missense_Mutation_p.N121K|NCR1_uc010esj.2_Missense_Mutation_p.N109K	p.N216K	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	686	+			216			Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.648C>G	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	4.623	0.115839	0.08831	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00510	7.09;7.11;7.15;7.17;6.9	3.19	2.16	0.27623	.	2.520460	0.01818	N	0.033897	T	0.00440	0.0014	L	0.53249	1.67	0.09310	N	1	P;P;B;P;B;B	0.40000	0.682;0.514;0.215;0.698;0.0;0.0	B;B;B;B;B;B	0.31869	0.137;0.096;0.04;0.093;0.007;0.003	T	0.59123	-0.7513	10	0.02654	T	1	.	6.5618	0.22491	0.0:0.8668:0.0:0.1332	.	109;121;216;121;216;216	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	K	216;216;216;121;109	ENSP00000291890:N216K;ENSP00000404434:N216K;ENSP00000339515:N216K;ENSP00000344358:N121K;ENSP00000349972:N109K	ENSP00000291890:N216K	N	+	3	2	NCR1	60113203	0.002000	0.14202	0.012000	0.15200	0.006000	0.05464	0.116000	0.15561	0.927000	0.37143	-0.233000	0.12211	AAC		0.433	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			32	112	0	0	0	0.002096	0	32	112				
NLRP13	126204	broad.mit.edu	37	19	56416458	56416458	+	Nonsense_Mutation	SNP	G	G	T	rs367708599		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:56416458G>T	ENST00000342929.3	-	8	2467	c.2468C>A	c.(2467-2469)tCg>tAg	p.S823*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.S823*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	823							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTGGCTGCCGACAAGTTGCA	0.527																																							uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2467-2469)TCG>TAG		NACHT, leucine rich repeat and PYD containing							118.0	91.0	100.0					19																	56416458		2203	4300	6503	SO:0001587	stop_gained	126204						ATP binding	g.chr19:56416458G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2468C>A	19.37:g.56416458G>T	ENSP00000343891:p.Ser823*						p.S823*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	8	2493	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	823					Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	c.2468C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110709	0.77210	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.19	-1.36	0.09085	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	5.1665	0.15088	0.4787:0.0:0.5213:0.0	.	.	.	.	X	823	.	ENSP00000343891:S823X	S	-	2	0	NLRP13	61108270	0.001000	0.12720	0.015000	0.15790	0.005000	0.04900	0.692000	0.25482	-0.204000	0.10235	-0.229000	0.12294	TCG		0.527	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		7	39	1	0	0.000157383	0.00308	0.000191976	7	39				
NLRP8	126205	broad.mit.edu	37	19	56490764	56490764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:56490764G>T	ENST00000291971.3	+	9	2952	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.E942*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	961					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.E961K(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)		TCACAGGCTGGAAAACTGCCT	0.512																																							uc002qmh.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2881-2883)GAA>TAA		NLR family, pyrin domain containing 8							105.0	101.0	102.0					19																	56490764		2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56490764G>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.2881G>T	19.37:g.56490764G>T	ENSP00000291971:p.Glu961*					NLRP8_uc010etg.2_Nonsense_Mutation_p.E942*	p.E961*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	2952	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	961					Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.2881G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762532	0.96906	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.36	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.3564	0.32333	0.0:0.0:1.0:0.0	.	.	.	.	X	961	.	ENSP00000291971:E961X	E	+	1	0	NLRP8	61182576	0.866000	0.29940	0.025000	0.17156	0.005000	0.04900	0.992000	0.29667	1.648000	0.50643	0.603000	0.83216	GAA		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		11	84	1	0	3.86212e-05	0.008291	4.87942e-05	11	84				
DUXA	503835	broad.mit.edu	37	19	57666724	57666724	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:57666724C>T	ENST00000554048.2	-	5	454	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		TCTAGATCTTCGATTTTGGAA	0.378																																							uc002qoa.1		NA																	0				ovary(1)	1						c.(454-456)CGA>CAA		double homeobox A							75.0	68.0	70.0					19																	57666724		2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57666724C>T		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.455G>A	19.37:g.57666724C>T	ENSP00000452398:p.Arg152Gln						p.R152Q	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	5	500	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	152			Homeobox 2.			Missense_Mutation	SNP	ENST00000554048.2	37	c.455G>A	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056026	0.19907	.	.	ENSG00000258873	ENST00000554048	D	0.97378	-4.36	2.28	2.28	0.28536	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.97374	0.9141	L	0.58510	1.815	0.28925	N	0.891883	D	0.89917	1.0	D	0.85130	0.997	D	0.92258	0.5814	9	0.87932	D	0	-12.0297	8.1567	0.31173	0.0:1.0:0.0:0.0	.	152	A6NLW8	DUXA_HUMAN	Q	152	ENSP00000452398:R152Q	ENSP00000365415:R152Q	R	-	2	0	DUXA	62358536	0.985000	0.35326	0.725000	0.30721	0.219000	0.24729	1.503000	0.35715	1.566000	0.49654	0.655000	0.94253	CGA		0.378	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		13	39	0	0	0	0.003163	0	13	39				
DUXA	503835	broad.mit.edu	37	19	57666732	57666732	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:57666732G>T	ENST00000554048.2	-	5	446	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		TTCGATTTTGGAACCAAATCT	0.368																																							uc002qoa.1		NA																	0				ovary(1)	1						c.(445-447)TTC>TTA		double homeobox A							64.0	60.0	61.0					19																	57666732		2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57666732G>T		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.447C>A	19.37:g.57666732G>T	ENSP00000452398:p.Phe149Leu						p.F149L	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	5	492	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	149			Homeobox 2.			Missense_Mutation	SNP	ENST00000554048.2	37	c.447C>A	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	G	7.687	0.690170	0.15039	.	.	ENSG00000258873	ENST00000554048	D	0.99741	-6.6	2.28	-0.264	0.12950	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.99632	0.9865	M	0.93939	3.475	0.31509	N	0.663863	D	0.69078	0.997	D	0.79108	0.992	D	0.98190	1.0462	9	0.59425	D	0.04	-12.8708	4.7467	0.13040	0.5292:0.0:0.4708:0.0	.	149	A6NLW8	DUXA_HUMAN	L	149	ENSP00000452398:F149L	ENSP00000365415:F149L	F	-	3	2	DUXA	62358544	1.000000	0.71417	0.982000	0.44146	0.258000	0.26162	0.207000	0.17395	-0.123000	0.11745	-0.345000	0.07892	TTC		0.368	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		12	32	1	0	1.5842e-08	0.001855	2.38251e-08	12	32				
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:58420783C>A	ENST00000312026.5	-	3	1027	c.863G>T	c.(862-864)cGa>cTa	p.R288L	ZNF417_ENST00000595559.1_Missense_Mutation_p.R287L|ZNF417_ENST00000536263.1_Missense_Mutation_p.R89L|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458																																							uc002qqq.2		NA																	0					0						c.(862-864)CGA>CTA		zinc finger protein 417							166.0	163.0	164.0					19																	58420783		2203	4300	6503	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420783C>A	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.863G>T	19.37:g.58420783C>A	ENSP00000311319:p.Arg288Leu					ZNF417_uc010yhm.1_Missense_Mutation_p.R245L|ZNF417_uc002qqr.2_Missense_Mutation_p.R287L	p.R288L	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1062	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	288			C2H2-type 3.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.863G>T	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.262286	0.23051	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.02421	4.3;4.3	1.68	0.55	0.17219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	L	0.48218	1.51	0.09310	N	1	B;P	0.51057	0.382;0.941	B;P	0.44359	0.053;0.447	T	0.40961	-0.9535	9	0.87932	D	0	.	7.2397	0.26090	0.0:0.8441:0.0:0.1559	.	288;288	F5H0M9;Q8TAU3	.;ZN417_HUMAN	L	288;89	ENSP00000311319:R288L;ENSP00000442760:R89L	ENSP00000311319:R288L	R	-	2	0	ZNF417	63112595	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.314000	0.01125	0.058000	0.16222	-1.206000	0.01644	CGA		0.458	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		31	107	1	0	5.45727e-16	0.008361	9.89084e-16	31	107				
ZNF606	80095	broad.mit.edu	37	19	58491351	58491351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:58491351G>A	ENST00000341164.4	-	7	1317	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.Q143*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTTCTATCTGAGAAACTCTC	0.393																																							uc002qqw.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(697-699)CAG>TAG		zinc finger protein 606							90.0	90.0	90.0					19																	58491351		2203	4300	6503	SO:0001587	stop_gained	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491351G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.697C>T	19.37:g.58491351G>A	ENSP00000343617:p.Gln233*					ZNF606_uc010yhp.1_Nonsense_Mutation_p.Q143*	p.Q233*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1315	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	233					A8KAN2|Q8NE04|Q96JH5	Nonsense_Mutation	SNP	ENST00000341164.4	37	c.697C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354640	0.82243	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	.	.	.	4.8	2.59	0.31030	.	0.176481	0.27668	N	0.018341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.8878	0.29661	0.0935:0.1665:0.7399:0.0	.	.	.	.	X	233;143;233	.	ENSP00000343617:Q233X	Q	-	1	0	ZNF606	63183163	0.020000	0.18652	0.994000	0.49952	0.843000	0.47879	0.570000	0.23653	2.478000	0.83669	0.561000	0.74099	CAG		0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		9	95	0	0	0	0.004482	0	9	95				
TPO	7173	broad.mit.edu	37	2	1418272	1418272	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:1418272G>T	ENST00000345913.4	+	2	183	c.92G>T	c.(91-93)tGg>tTg	p.W31L	TPO_ENST00000349624.3_Missense_Mutation_p.W31L|TPO_ENST00000382201.3_Missense_Mutation_p.W31L|TPO_ENST00000382269.3_Missense_Mutation_p.W31L|TPO_ENST00000382198.1_Missense_Mutation_p.W31L|TPO_ENST00000539820.1_Missense_Mutation_p.W31L|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.W31L|TPO_ENST00000346956.3_Missense_Mutation_p.W31L|TPO_ENST00000329066.4_Missense_Mutation_p.W31L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	31					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAACTCCTTTGGGGTAAGTAG	0.448																																							uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(91-93)TGG>TTG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						69.0	63.0	65.0					2																	1418272		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1418272G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.92G>T	2.37:g.1418272G>T	ENSP00000318820:p.Trp31Leu					TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.W31L|TPO_uc002qwu.2_Missense_Mutation_p.W31L|TPO_uc002qwr.2_Missense_Mutation_p.W31L|TPO_uc002qwx.2_Missense_Mutation_p.W31L|TPO_uc010yio.1_Missense_Mutation_p.W31L|TPO_uc010yip.1_Missense_Mutation_p.W31L	p.W31L	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	2	183	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	31			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.92G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	9.496	1.102001	0.20632	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;-0.03;-0.03;0.0;0.24;0.39;-0.03;0.05;0.41;0.24	5.39	5.39	0.77823	.	1.198330	0.05608	N	0.577571	T	0.54224	0.1845	L	0.36672	1.1	0.26064	N	0.981313	B;B;P;B;B	0.43938	0.418;0.386;0.822;0.418;0.294	B;B;B;B;B	0.38225	0.083;0.232;0.268;0.083;0.038	T	0.41928	-0.9481	10	0.10902	T	0.67	-8.105	15.0013	0.71473	0.0:0.0:1.0:0.0	.	31;31;31;31;31	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	L	31	ENSP00000371704:W31L;ENSP00000337263:W31L;ENSP00000318820:W31L;ENSP00000263886:W31L;ENSP00000332044:W31L;ENSP00000444840:W31L;ENSP00000329869:W31L;ENSP00000371636:W31L;ENSP00000390994:W31L;ENSP00000371633:W31L	ENSP00000329869:W31L	W	+	2	0	TPO	1397279	0.995000	0.38212	0.959000	0.39883	0.035000	0.12851	2.816000	0.48026	2.681000	0.91329	0.655000	0.94253	TGG		0.448	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		14	24	1	0	1.3612e-06	0.003163	1.8944e-06	14	24				
MYT1L	23040	broad.mit.edu	37	2	1926164	1926164	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:1926164C>A	ENST00000399161.2	-	10	2124	c.1377G>T	c.(1375-1377)agG>agT	p.R459S	MYT1L_ENST00000428368.2_Missense_Mutation_p.R459S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	459					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)		TCATATTGTCCCTCCTCCCAG	0.522																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1375-1377)AGG>AGT		myelin transcription factor 1-like							188.0	181.0	184.0					2																	1926164		1996	4161	6157	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926164C>A	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.1377G>T	2.37:g.1926164C>A	ENSP00000382114:p.Arg459Ser					MYT1L_uc002qxd.2_Missense_Mutation_p.R459S|MYT1L_uc010ewl.1_RNA	p.R459S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2204	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	459					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1377G>T		.	.	.	.	.	.	.	.	.	.	C	10.37	1.330496	0.24167	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.48836	0.8;0.85	5.91	4.12	0.48240	.	0.041245	0.85682	D	0.000000	T	0.36110	0.0955	L	0.32530	0.975	0.80722	D	1	P;P	0.51933	0.915;0.949	B;B	0.43301	0.169;0.415	T	0.04855	-1.0922	10	0.19147	T	0.46	-39.8547	11.7729	0.51968	0.0:0.8098:0.1241:0.066	.	459;459	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	S	459;407;459	ENSP00000382114:R459S;ENSP00000396103:R459S	ENSP00000295067:R407S	R	-	3	2	MYT1L	1905171	1.000000	0.71417	0.957000	0.39632	0.029000	0.11900	2.033000	0.41136	0.839000	0.34971	0.655000	0.94253	AGG		0.522	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		24	111	1	0	7.87624e-14	0.00278	1.38634e-13	24	111				
COLEC11	78989	broad.mit.edu	37	2	3691331	3691332	+	Missense_Mutation	DNP	CG	CG	AC			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:3691331_3691332CG>AC	ENST00000349077.4	+	7	542_543	c.439_440CG>AC	c.(439-441)CGc>ACc	p.R147T	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Missense_Mutation_p.R123T|COLEC11_ENST00000402922.1_Missense_Mutation_p.R97T|COLEC11_ENST00000418971.2_Missense_Mutation_p.R161T|COLEC11_ENST00000404205.1_Missense_Mutation_p.R73T|COLEC11_ENST00000402794.1_Missense_Mutation_p.R97T|COLEC11_ENST00000236693.7_Missense_Mutation_p.R144T|COLEC11_ENST00000403096.3_Missense_Mutation_p.R121T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	147					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGCCGGTGTGCGCGAGACGGAG	0.634																																							uc002qya.2		NA																	0					0						c.(439-441)CGC>ACC		collectin sub-family member 11 isoform a																																				SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691331_3691332CG>AC	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	Exception_encountered	2.37:g.3691331_3691332delinsAC	ENSP00000339168:p.Arg147Thr					COLEC11_uc002qxz.2_Missense_Mutation_p.R144T|COLEC11_uc002qyb.2_Missense_Mutation_p.R123T|COLEC11_uc002qyc.2_Missense_Mutation_p.R123T|COLEC11_uc010ewo.2_Missense_Mutation_p.R99T|COLEC11_uc010ewp.2_Missense_Mutation_p.R121T|COLEC11_uc010ewq.2_Missense_Mutation_p.R97T|COLEC11_uc010ewr.2_Missense_Mutation_p.R97T|COLEC11_uc010ews.2_Missense_Mutation_p.R73T	p.R147T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	587_588	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		147			Potential.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	DNP	ENST00000349077.4	37	c.439_440CG>AC	CCDS1649.1																																																																																				0.634	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		12	43	0	0	0	0.004672	0	12	43				
ASAP2	8853	broad.mit.edu	37	2	9531320	9531320	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:9531320C>A	ENST00000281419.3	+	23	2853	c.2513C>A	c.(2512-2514)tCt>tAt	p.S838Y	ASAP2_ENST00000315273.4_Intron|ASAP2_ENST00000491413.1_Intron	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	838	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CGCGTGACATCTACCAGTACG	0.567																																							uc002qzh.2		NA																	0					0						c.(2512-2514)TCT>TAT		ArfGAP with SH3 domain, ankyrin repeat and PH							148.0	152.0	151.0					2																	9531320		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9531320C>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2513C>A	2.37:g.9531320C>A	ENSP00000281419:p.Ser838Tyr					ASAP2_uc002qzi.2_Intron	p.S838Y	NM_003887	NP_003878	O43150	ASAP2_HUMAN			23	2853	+			838			Pro-rich.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2513C>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998105	0.74818	.	.	ENSG00000151693	ENST00000281419	T	0.58506	0.33	4.36	4.36	0.52297	.	0.531595	0.18492	N	0.139601	T	0.59569	0.2203	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.69540	-0.5118	10	0.66056	D	0.02	.	17.43	0.87537	0.0:1.0:0.0:0.0	.	838	O43150	ASAP2_HUMAN	Y	838	ENSP00000281419:S838Y	ENSP00000281419:S838Y	S	+	2	0	ASAP2	9448771	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.578000	0.67450	2.435000	0.82474	0.305000	0.20034	TCT		0.567	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		27	84	1	0	9.39395e-14	0.00632	1.64701e-13	27	84				
APOB	338	broad.mit.edu	37	2	21251391	21251391	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:21251391T>A	ENST00000233242.1	-	13	1764	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L	APOB_ENST00000399256.4_Missense_Mutation_p.Q546L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	546	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAAAGTCTGAAGAAGAAC	0.468																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1636-1638)CAG>CTG		apolipoprotein B precursor	Atorvastatin(DB01076)						100.0	89.0	93.0					2																	21251391		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21251391T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1637A>T	2.37:g.21251391T>A	ENSP00000233242:p.Gln546Leu						p.Q546L	NM_000384	NP_000375	P04114	APOB_HUMAN			13	1765	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		546			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1637A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159503	0.78226	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.70749	-0.51;-0.51	5.69	5.69	0.88448	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.311416	0.29715	N	0.011394	T	0.82089	0.4961	M	0.71581	2.175	0.44985	D	0.998008	D	0.62365	0.991	P	0.62089	0.898	D	0.84033	0.0360	10	0.72032	D	0.01	.	16.2703	0.82612	0.0:0.0:0.0:1.0	.	546	P04114	APOB_HUMAN	L	546	ENSP00000233242:Q546L;ENSP00000382200:Q546L	ENSP00000233242:Q546L	Q	-	2	0	APOB	21104896	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	3.346000	0.52190	2.311000	0.77944	0.533000	0.62120	CAG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	58	0	0	0	0.00499	0	16	58				
FAM228A	653140	broad.mit.edu	37	2	24413446	24413446	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24413446C>A	ENST00000295150.3	+	6	653	c.567C>A	c.(565-567)ggC>ggA	p.G189G		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	189																	TGGGGCGGGGCTGGCATGCAG	0.597																																							uc002rfc.2		NA																	0					0						c.(565-567)GGC>GGA		hypothetical protein LOC653140							44.0	49.0	47.0					2																	24413446		1959	4146	6105	SO:0001819	synonymous_variant	653140							g.chr2:24413446C>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.567C>A	2.37:g.24413446C>A						C2orf84_uc010eyc.2_RNA	p.G189G	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN			6	653	+			189						Silent	SNP	ENST00000295150.3	37	c.567C>A	CCDS42659.1																																																																																				0.597	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		17	44	1	0	5.35267e-07	0.007413	7.53525e-07	17	44				
ITSN2	50618	broad.mit.edu	37	2	24533223	24533223	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24533223G>C	ENST00000355123.4	-	7	1026	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L195V|ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Missense_Mutation_p.L195V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	195					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATCATCAGACTATAAGAT	0.343																																							uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(583-585)CTG>GTG		intersectin 2 isoform 1							212.0	226.0	221.0					2																	24533223		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533223G>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.583C>G	2.37:g.24533223G>C	ENSP00000347244:p.Leu195Val					ITSN2_uc002rff.2_Missense_Mutation_p.L195V|ITSN2_uc002rfg.2_Missense_Mutation_p.L195V|ITSN2_uc010eyd.2_Missense_Mutation_p.L195V	p.L195V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			7	841	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.583C>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477364	0.44044	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.59772	0.25;0.24;0.25;0.67;0.78;1.48	4.81	4.81	0.61882	.	0.288485	0.18101	U	0.151682	T	0.47581	0.1453	L	0.33485	1.01	0.32972	D	0.522523	P;P;P;P	0.45715	0.774;0.774;0.752;0.865	B;B;B;B	0.42738	0.385;0.385;0.343;0.396	T	0.51140	-0.8743	10	0.08599	T	0.76	.	16.4604	0.84033	0.0:0.0:1.0:0.0	.	195;195;195;195	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	195;195;195;194;195;195;181	ENSP00000354561:L195V;ENSP00000347244:L195V;ENSP00000370250:L195V;ENSP00000384499:L195V;ENSP00000391224:L195V;ENSP00000391715:L181V	ENSP00000347244:L195V	L	-	1	2	ITSN2	24386727	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.746000	0.38288	2.375000	0.81037	0.467000	0.42956	CTG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		77	199	0	0	0	0.00361	0	77	199				
NCOA1	8648	broad.mit.edu	37	2	24949555	24949555	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24949555A>G	ENST00000406961.1	+	15	3349	c.2697A>G	c.(2695-2697)atA>atG	p.I899M	NCOA1_ENST00000407230.1_Missense_Mutation_p.I748M|NCOA1_ENST00000405141.1_Missense_Mutation_p.I899M|NCOA1_ENST00000348332.3_Missense_Mutation_p.I899M|NCOA1_ENST00000395856.3_Missense_Mutation_p.I899M|NCOA1_ENST00000538539.1_Missense_Mutation_p.I899M|NCOA1_ENST00000288599.5_Missense_Mutation_p.I899M			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	899	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGCTATAAATCAGAGTA	0.343			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2695-2697)ATA>ATG		nuclear receptor coactivator 1 isoform 1							81.0	83.0	82.0					2																	24949555		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24949555A>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2697A>G	2.37:g.24949555A>G	ENSP00000385216:p.Ile899Met					NCOA1_uc010eye.2_Missense_Mutation_p.I899M|NCOA1_uc002rfi.2_Missense_Mutation_p.I748M|NCOA1_uc002rfj.2_Missense_Mutation_p.I899M|NCOA1_uc002rfl.2_Missense_Mutation_p.I899M	p.I899M	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			13	2955	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		899			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2697A>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	4.290	0.052951	0.08291	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02067	4.59;4.58;4.47;4.58;4.59;4.58;4.59	5.38	2.68	0.31781	.	0.952783	0.08785	N	0.894167	T	0.00998	0.0033	N	0.01874	-0.695	0.21878	N	0.999499	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.13407	0.004;0.003;0.009;0.001	T	0.48502	-0.9030	10	0.37606	T	0.19	.	0.5059	0.00587	0.4329:0.2177:0.1408:0.2086	.	899;899;899;748	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	M	899;899;748;899;899;899;899	ENSP00000385216:I899M;ENSP00000385097:I899M;ENSP00000385195:I748M;ENSP00000444039:I899M;ENSP00000320940:I899M;ENSP00000288599:I899M;ENSP00000379197:I899M	ENSP00000288599:I899M	I	+	3	3	NCOA1	24803059	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	1.101000	0.31037	0.956000	0.37904	0.524000	0.50904	ATA		0.343	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		7	37	0	0	0	0.001984	0	7	37				
SLC35F6	54978	broad.mit.edu	37	2	27001193	27001193	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:27001193G>T	ENST00000344420.5	+	6	992	c.930G>T	c.(928-930)ctG>ctT	p.L310L	SLC35F6_ENST00000416475.2_Silent_p.L227L|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	310					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											GCCTGGCACTGGGCTGGGAGG	0.612																																							uc002rhp.1		NA																	0					0						c.(928-930)CTG>CTT		ANT2-binding protein precursor							152.0	131.0	138.0					2																	27001193		2203	4300	6503	SO:0001819	synonymous_variant	54978					integral to membrane|lysosomal membrane		g.chr2:27001193G>T	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.930G>T	2.37:g.27001193G>T						C2orf18_uc002rhq.1_Silent_p.L227L|C2orf18_uc010eyo.1_Silent_p.L257L|C2orf18_uc010ylc.1_Silent_p.L163L	p.L310L	NM_017877	NP_060347	Q8N357	CB018_HUMAN			6	1006	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		310			Helical; (Potential).		D6W543|Q53GK2|Q8NBX6|Q9NWX0	Silent	SNP	ENST00000344420.5	37	c.930G>T	CCDS1728.1																																																																																				0.612	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		12	92	1	0	9.31168e-06	0.001855	1.24063e-05	12	92				
GALNT14	79623	broad.mit.edu	37	2	31147103	31147103	+	Missense_Mutation	SNP	T	T	A	rs201882471	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:31147103T>A	ENST00000349752.5	-	13	1901	c.1262A>T	c.(1261-1263)aAg>aTg	p.K421M	GALNT14_ENST00000324589.5_Missense_Mutation_p.K426M|GALNT14_ENST00000356174.3_Missense_Mutation_p.K388M|GALNT14_ENST00000420311.2_Missense_Mutation_p.K386M|GALNT14_ENST00000406653.1_Missense_Mutation_p.K401M|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	421	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATATTGCCCTTCTGGATGGA	0.532																																							uc002rnr.2		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(1261-1263)AAG>ATG		N-acetylgalactosaminyltransferase 14							209.0	194.0	199.0					2																	31147103		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31147103T>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1262A>T	2.37:g.31147103T>A	ENSP00000288988:p.Lys421Met					GALNT14_uc002rnq.2_Missense_Mutation_p.K401M|GALNT14_uc002rns.2_Missense_Mutation_p.K426M|GALNT14_uc010ymr.1_Missense_Mutation_p.K386M|GALNT14_uc010ezo.1_Missense_Mutation_p.K388M	p.K421M	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			13	1881	-	Acute lymphoblastic leukemia(172;0.155)		421			Lumenal (Potential).|Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1262A>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648463	0.67358	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;0.03	4.84	3.6	0.41247	Ricin B-related lectin (1);Ricin B lectin (2);	1.714320	0.03933	N	0.285703	T	0.76807	0.4039	L	0.57536	1.79	0.35427	D	0.793768	P;D;P;D;D	0.59767	0.94;0.986;0.923;0.984;0.975	P;P;P;P;P	0.59288	0.77;0.855;0.643;0.852;0.832	T	0.67189	-0.5733	10	0.35671	T	0.21	.	10.1475	0.42774	0.0:0.0:0.3967:0.6033	.	386;388;426;421;401	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	M	421;426;401;388;386;388	ENSP00000288988:K421M;ENSP00000314500:K426M;ENSP00000385435:K401M;ENSP00000348497:K388M;ENSP00000415514:K386M;ENSP00000406399:K388M	ENSP00000314500:K426M	K	-	2	0	GALNT14	31000607	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.784000	0.55416	1.813000	0.52934	0.460000	0.39030	AAG		0.532	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		17	97	0	0	0	0.006122	0	17	97				
LTBP1	4052	broad.mit.edu	37	2	33412009	33412009	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:33412009T>A	ENST00000404816.2	+	6	1641	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	LTBP1_ENST00000418533.2_Missense_Mutation_p.C104S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C104S|LTBP1_ENST00000407925.1_Missense_Mutation_p.C104S|LTBP1_ENST00000404525.1_Missense_Mutation_p.C104S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C104S|LTBP1_ENST00000354476.3_Missense_Mutation_p.C430S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	430	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)				AGGAAAACTTTGTCAGATCCC	0.478																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1288-1290)TGT>AGT		latent transforming growth factor beta binding							115.0	107.0	109.0					2																	33412009		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.chr2:33412009T>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.1288T>A	2.37:g.33412009T>A	ENSP00000386043:p.Cys430Ser					LTBP1_uc002rot.2_Missense_Mutation_p.C104S|LTBP1_uc002rou.2_Missense_Mutation_p.C104S|LTBP1_uc002rov.2_Missense_Mutation_p.C104S|LTBP1_uc010ymz.1_Missense_Mutation_p.C104S|LTBP1_uc010yna.1_Missense_Mutation_p.C104S	p.C430S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1288	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	430			EGF-like 2.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1288T>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569053	0.65765	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.99834	-7.04;-7.04;-7.04;-7.04;-7.04;-7.04;-7.04	5.3	5.3	0.74995	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99459	0.9808	M	0.68952	2.095	0.80722	D	1	B;B;P;B;B;B	0.42941	0.038;0.031;0.794;0.063;0.107;0.063	B;B;B;B;B;B	0.44224	0.015;0.007;0.444;0.023;0.023;0.034	D	0.98298	1.0517	9	0.87932	D	0	.	15.2561	0.73585	0.0:0.0:0.0:1.0	.	430;104;104;104;104;430	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	S	430;430;119;104;104;104;104;104	ENSP00000386043:C430S;ENSP00000346467:C430S;ENSP00000374653:C104S;ENSP00000393057:C104S;ENSP00000384373:C104S;ENSP00000385359:C104S;ENSP00000384091:C104S	ENSP00000346467:C430S	C	+	1	0	LTBP1	33265513	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.393000	0.79851	1.998000	0.58463	0.533000	0.62120	TGT		0.478	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		19	31	0	0	0	0.006122	0	19	31				
LTBP1	4052	broad.mit.edu	37	2	33488390	33488390	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:33488390C>A	ENST00000404816.2	+	15	2901	c.2548C>A	c.(2548-2550)Cct>Act	p.P850T	LTBP1_ENST00000418533.2_Missense_Mutation_p.P524T|LTBP1_ENST00000402934.1_Missense_Mutation_p.P471T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P524T|LTBP1_ENST00000404525.1_Missense_Mutation_p.P471T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P525T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P851T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	850					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)				ACCTCCTGTGCCTGTTGAAGT	0.398																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2551-2553)CCT>ACT		latent transforming growth factor beta binding							144.0	142.0	143.0					2																	33488390		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.chr2:33488390C>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.2548C>A	2.37:g.33488390C>A	ENSP00000386043:p.Pro850Thr					LTBP1_uc002rot.2_Missense_Mutation_p.P525T|LTBP1_uc002rou.2_Missense_Mutation_p.P524T|LTBP1_uc002rov.2_Missense_Mutation_p.P471T|LTBP1_uc010ymz.1_Missense_Mutation_p.P524T|LTBP1_uc010yna.1_Missense_Mutation_p.P471T	p.P851T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			15	2551	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	850					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2551C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303679	0.81136	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.4;-1.33;-1.29;-1.34;-1.32;-1.31;1.61;0.22	5.38	5.38	0.77491	.	.	.	.	.	D	0.88548	0.6466	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.979;0.999;0.999;0.999	D	0.89179	0.3542	9	0.72032	D	0.01	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	850;524;471;524;525;851	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	T	850;851;525;524;471;471;524;178;168	ENSP00000386043:P850T;ENSP00000346467:P851T;ENSP00000374653:P525T;ENSP00000393057:P524T;ENSP00000384373:P471T;ENSP00000385359:P471T;ENSP00000384091:P524T;ENSP00000415412:P178T;ENSP00000417591:P168T	ENSP00000346467:P851T	P	+	1	0	LTBP1	33341894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.677000	0.68142	2.528000	0.85240	0.561000	0.74099	CCT		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		16	58	1	0	1.3612e-06	0.003163	1.8944e-06	16	58				
MAP4K3	8491	broad.mit.edu	37	2	39487871	39487871	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:39487871C>A	ENST00000263881.3	-	29	2508	c.2184G>T	c.(2182-2184)ctG>ctT	p.L728L	MAP4K3_ENST00000341681.5_Silent_p.L707L|MAP4K3_ENST00000536018.1_Silent_p.L281L|MAP4K3_ENST00000437545.1_Silent_p.L644L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	728	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGGAACTACCAGCATTTCAA	0.363																																							uc002rro.2		NA																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2182-2184)CTG>CTT		mitogen-activated protein kinase kinase kinase							84.0	81.0	82.0					2																	39487871		2203	4300	6503	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39487871C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2184G>T	2.37:g.39487871C>A						MAP4K3_uc002rrp.2_Silent_p.L707L|MAP4K3_uc010yns.1_Silent_p.L281L	p.L728L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			29	2275	-		all_hematologic(82;0.211)	728			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.2184G>T	CCDS1803.1																																																																																				0.363	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		15	27	1	0	2.32078e-09	0.003163	3.60742e-09	15	27				
SLC8A1	6546	broad.mit.edu	37	2	40405545	40405545	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:40405545C>G	ENST00000403092.1	-	3	1930	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E633Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E633Q|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E633Q|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	633					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACTCATCTCCACCAGGCGG	0.512																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1897-1899)GAG>CAG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						163.0	170.0	168.0					2																	40405545		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40405545C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1897G>C	2.37:g.40405545C>G	ENSP00000384763:p.Glu633Gln					uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.E633Q|SLC8A1_uc002rrz.2_Intron|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Intron	p.E633Q	NM_021097	NP_066920	P32418	NAC1_HUMAN			2	1921	-			633			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1897G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819358	0.50633	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.39	5.39	0.77823	.	0.117104	0.56097	D	0.000021	T	0.30262	0.0759	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.03863	-1.0997	10	0.49607	T	0.09	.	16.6407	0.85098	0.0:1.0:0.0:0.0	.	633;633	F6VPY9;P32418	.;NAC1_HUMAN	Q	633	ENSP00000440727:E633Q;ENSP00000384763:E633Q;ENSP00000385678:E633Q;ENSP00000332931:E633Q	ENSP00000332931:E633Q	E	-	1	0	SLC8A1	40259049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.380000	0.79704	2.506000	0.84524	0.591000	0.81541	GAG		0.512	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		34	215	0	0	0	0.004289	0	34	215				
EML4	27436	broad.mit.edu	37	2	42488304	42488304	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:42488304A>G	ENST00000318522.5	+	4	644	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E	EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.K128E	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	128					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						acagagagaaaaaaaagagga	0.348			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	0				lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(382-384)AAA>GAA		echinoderm microtubule associated protein like 4							93.0	92.0	93.0					2																	42488304		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42488304A>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.382A>G	2.37:g.42488304A>G	ENSP00000320663:p.Lys128Glu					EML4_uc002rsh.3_Missense_Mutation_p.K128E|EML4_uc010fap.2_Intron	p.K128E	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			4	644	+			128					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.382A>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133522	0.37630	.	.	ENSG00000143924	ENST00000318522;ENST00000401738	T;T	0.61158	1.15;0.13	5.22	5.22	0.72569	.	0.507906	0.21964	N	0.066551	T	0.43897	0.1268	L	0.34521	1.04	0.80722	D	1	B;P	0.40970	0.0;0.734	B;B	0.37731	0.001;0.257	T	0.38308	-0.9667	10	0.07325	T	0.83	-13.0793	15.3871	0.74708	1.0:0.0:0.0:0.0	.	128;128	Q9HC35;A6P4T4	EMAL4_HUMAN;.	E	128	ENSP00000320663:K128E;ENSP00000384939:K128E	ENSP00000320663:K128E	K	+	1	0	EML4	42341808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.092000	0.64511	2.094000	0.63399	0.454000	0.30748	AAA		0.348	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		14	13	0	0	0	0.001855	0	14	13				
SOCS5	9655	broad.mit.edu	37	2	46986566	46986566	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:46986566G>C	ENST00000306503.5	+	2	1069	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SOCS5_ENST00000394861.2_Silent_p.L299L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	299					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TATATAAACTGGGACCAAAAT	0.433																																							uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(895-897)CTG>CTC		suppressor of cytokine signaling 5							46.0	48.0	48.0					2																	46986566		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986566G>C	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.897G>C	2.37:g.46986566G>C						SOCS5_uc010yoe.1_Silent_p.L268L|SOCS5_uc002rvg.2_Silent_p.L299L	p.L299L	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1061	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	299					Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.897G>C	CCDS1830.1																																																																																				0.433	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			20	62	0	0	0	0.001523	0	20	62				
NRXN1	9378	broad.mit.edu	37	2	50463932	50463932	+	Missense_Mutation	SNP	G	G	T	rs377333818		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:50463932G>T	ENST00000406316.2	-	18	5017	c.3541C>A	c.(3541-3543)Cat>Aat	p.H1181N	NRXN1_ENST00000342183.5_Missense_Mutation_p.H146N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H1181N|NRXN1_ENST00000401710.1_Missense_Mutation_p.H199N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000402717.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H1221N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H1181N|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1181	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H1181N(1)|p.H1221N(1)|p.H1222N(1)|p.H146N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTACTATATGCAGTTCTAGG	0.398																																							uc010fbp.2		NA																	4	Substitution - Missense(4)	p.H146L(1)	lung(4)	ovary(2)	2						c.(436-438)CAT>AAT		neurexin 1 isoform beta precursor		G	ASN/HIS,ASN/HIS,ASN/HIS	0,4406		0,0,2203	95.0	86.0	89.0		3661,3541,436	5.7	1.0	2		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN1	NM_001135659.1,NM_004801.4,NM_138735.2	68,68,68	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1221/1548,1181/1478,146/443	50463932	1,13005	2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50463932G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3541C>A	2.37:g.50463932G>T	ENSP00000384311:p.His1181Asn					NRXN1_uc002rxb.3_Missense_Mutation_p.H853N|NRXN1_uc010fbq.2_Missense_Mutation_p.H1221N|NRXN1_uc002rxe.3_Missense_Mutation_p.H1181N|NRXN1_uc002rxc.1_RNA	p.H146N	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1243	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	146			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.436C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964205	0.74131	0.0	1.16E-4	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.187162	0.34411	U	0.003987	D	0.88872	0.6555	M	0.82517	2.595	0.44289	D	0.997153	P;P;P;P	0.47910	0.734;0.683;0.88;0.902	P;P;P;P	0.61397	0.648;0.798;0.716;0.888	D	0.89430	0.3716	10	0.72032	D	0.01	.	19.7969	0.96490	0.0:0.0:1.0:0.0	.	1221;146;1181;1173	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	N	146;100;199;1221;1181;1173;1181;1222;1173;1181	ENSP00000341184:H146N;ENSP00000385580:H199N;ENSP00000385142:H1221N;ENSP00000384311:H1181N;ENSP00000434015:H1173N;ENSP00000385017:H1181N;ENSP00000385434:H1173N;ENSP00000385681:H1181N	ENSP00000341184:H146N	H	-	1	0	NRXN1	50317436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.653000	0.98506	2.679000	0.91253	0.650000	0.86243	CAT		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	18	1	0	7.48243e-07	0.006214	1.04676e-06	10	18				
NRXN1	9378	broad.mit.edu	37	2	50780095	50780095	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:50780095C>A	ENST00000406316.2	-	9	2865	c.1389G>T	c.(1387-1389)atG>atT	p.M463I	NRXN1_ENST00000401669.2_Missense_Mutation_p.M463I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M455I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M455I|NRXN1_ENST00000404971.1_Missense_Mutation_p.M503I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M463I|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	463	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGGATCTTCATCTTAGGAT	0.418																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(1507-1509)ATG>ATT		neurexin 1 isoform alpha2 precursor							132.0	125.0	127.0					2																	50780095		1880	4127	6007	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50780095C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1389G>T	2.37:g.50780095C>A	ENSP00000384311:p.Met463Ile					NRXN1_uc002rxb.3_Missense_Mutation_p.M135I|NRXN1_uc002rxe.3_Missense_Mutation_p.M463I|NRXN1_uc002rxc.1_RNA	p.M503I	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	2986	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1509G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240723	0.79912	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.68765	0.38;0.34;-0.35;-0.24;0.06;0.21	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	N	0.03224	-0.385	0.51012	D	0.999909	B;D;B	0.56968	0.092;0.978;0.02	B;D;B	0.68192	0.044;0.956;0.014	T	0.57015	-0.7883	10	0.02654	T	1	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	503;463;455	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	503;463;455;463;504;455;463	ENSP00000385142:M503I;ENSP00000384311:M463I;ENSP00000434015:M455I;ENSP00000385017:M463I;ENSP00000385434:M455I;ENSP00000385681:M463I	ENSP00000385017:M463I	M	-	3	0	NRXN1	50633599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.696000	0.92011	0.650000	0.86243	ATG		0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			22	128	1	0	4.7796e-09	0.004656	7.3444e-09	22	128				
GPR75	10936	broad.mit.edu	37	2	54080865	54080865	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:54080865C>A	ENST00000394705.2	-	2	1299	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	343					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAGAACCACCTGTACCAAGG	0.433																																							uc002rxo.3		NA																	0				ovary(1)|skin(1)	2						c.(1027-1029)CAG>CAT		G protein-coupled receptor 75							93.0	90.0	91.0					2																	54080865		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080865C>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1029G>T	2.37:g.54080865C>A	ENSP00000378195:p.Gln343His					ASB3_uc002rxi.3_Intron	p.Q343H	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1300	-			343			Extracellular (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1029G>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468703	0.43839	.	.	ENSG00000119737	ENST00000394705	T	0.37058	1.22	5.28	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	.	.	.	0.58432	D	0.999992	B	0.06786	0.001	B	0.13407	0.009	T	0.07770	-1.0755	9	0.15499	T	0.54	-0.5969	4.0784	0.09914	0.2875:0.4918:0.0:0.2207	.	343	O95800	GPR75_HUMAN	H	343	ENSP00000378195:Q343H	ENSP00000378195:Q343H	Q	-	3	2	GPR75	53934369	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.428000	0.34892	0.344000	0.23847	0.555000	0.69702	CAG		0.433	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			20	36	1	0	6.33239e-15	0.001523	1.13392e-14	20	36				
MTIF2	4528	broad.mit.edu	37	2	55471275	55471275	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:55471275C>G	ENST00000263629.4	-	11	1516	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	MTIF2_ENST00000403721.1_Missense_Mutation_p.D401H|MTIF2_ENST00000394600.3_Missense_Mutation_p.D401H	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	401					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATTTTCATCAAACATTAAG	0.398																																							uc002ryn.2		NA																	0				ovary(1)	1						c.(1201-1203)GAT>CAT		mitochondrial translational initiation factor 2							91.0	85.0	87.0					2																	55471275		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55471275C>G	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1201G>C	2.37:g.55471275C>G	ENSP00000263629:p.Asp401His					MTIF2_uc010yox.1_Missense_Mutation_p.D70H|MTIF2_uc002ryo.2_Missense_Mutation_p.D401H	p.D401H	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			12	1938	-			401					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1201G>C	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057839	0.93846	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.63913	-0.07;-0.07;-0.07	5.88	5.88	0.94601	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92209	0.5774	10	0.87932	D	0	-22.86	20.2381	0.98363	0.0:1.0:0.0:0.0	.	401	P46199	IF2M_HUMAN	H	401	ENSP00000384481:D401H;ENSP00000263629:D401H;ENSP00000378099:D401H	ENSP00000263629:D401H	D	-	1	0	MTIF2	55324779	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.625000	0.83145	2.779000	0.95612	0.650000	0.86243	GAT		0.398	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		4	47	0	0	0	0.000602	0	4	47				
MDH1	4190	broad.mit.edu	37	2	63832413	63832413	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:63832413G>C	ENST00000233114.8	+	7	1110		c.e7-1		MDH1_ENST00000539945.1_Splice_Site|MDH1_ENST00000409908.1_Splice_Site|MDH1_ENST00000409476.1_Splice_Site|MDH1_ENST00000394423.1_Splice_Site|MDH1_ENST00000544381.1_Splice_Site	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)						carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						CCCCTTCCCAGACTGTGCAGC	0.512																																							uc002scj.1		NA																	0				kidney(2)	2						c.e7-1		cytosolic malate dehydrogenase	NADH(DB00157)						40.0	39.0	39.0					2																	63832413		2203	4300	6503	SO:0001630	splice_region_variant	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63832413G>C		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.676-1G>C	2.37:g.63832413G>C						MDH1_uc010ypv.1_Splice_Site_p.T244_splice|MDH1_uc010ypw.1_Splice_Site_p.T131_splice	p.T226_splice	NM_005917	NP_005908	P40925	MDHC_HUMAN			7	732	+								B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Splice_Site	SNP	ENST00000233114.8	37	c.676_splice	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167037	0.78339	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MDH1	63685917	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.581000	0.82535	2.824000	0.97209	0.655000	0.94253	.		0.512	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1		Intron	5	21	0	0	0	0.000602	0	5	21				
ALMS1	7840	broad.mit.edu	37	2	73650100	73650100	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:73650100G>C	ENST00000264448.6	+	4	873	c.762G>C	c.(760-762)ctG>ctC	p.L254L	ALMS1_ENST00000377715.1_Silent_p.L254L|ALMS1_ENST00000409009.1_Silent_p.L212L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	254					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGCACCTCTGAGGTAGGATG	0.398																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(763-765)CTG>CTC		Alstrom syndrome 1							178.0	160.0	165.0					2																	73650100		1848	4098	5946	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73650100G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.762G>C	2.37:g.73650100G>C						ALMS1_uc002sjf.1_Silent_p.L212L	p.L255L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			5	876	+			254					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.765G>C	CCDS42697.1																																																																																				0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	154	0	0	0	0.000602	0	5	154				
TET3	200424	broad.mit.edu	37	2	74273589	74273589	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:74273589G>C	ENST00000409262.3	+	1	140	c.140G>C	c.(139-141)tGg>tCg	p.W47S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	47					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCCCGACTGGGAGGCTGCC	0.647																																							uc002skb.3		NA																	0					0						c.(139-141)TGG>TCG		tet oncogene family member 3							36.0	41.0	40.0					2																	74273589		1921	4134	6055	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273589G>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.140G>C	2.37:g.74273589G>C	ENSP00000386869:p.Trp47Ser					TET3_uc010fez.1_Missense_Mutation_p.W47S	p.W47S	NM_144993	NP_659430	O43151	TET3_HUMAN			1	140	+			47					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.140G>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809492	0.31961	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.55760	0.5;1.71	5.41	5.41	0.78517	.	.	.	.	.	T	0.43255	0.1239	L	0.27053	0.805	0.58432	D	0.999998	P	0.34864	0.473	B	0.32393	0.145	T	0.47911	-0.9080	9	0.87932	D	0	.	18.1384	0.89630	0.0:0.0:1.0:0.0	.	47	O43151	TET3_HUMAN	S	89;47;47	ENSP00000307803:W89S;ENSP00000386869:W47S	ENSP00000233310:W47S	W	+	2	0	TET3	74127097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.692000	0.68256	2.826000	0.97356	0.561000	0.74099	TGG		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	32	0	0	0	0.001168	0	5	32				
DCTN1	1639	broad.mit.edu	37	2	74593378	74593378	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:74593378G>A	ENST00000361874.3	-	23	3070	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	DCTN1_ENST00000409868.1_Missense_Mutation_p.P901L|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.P898L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P911L|DCTN1_ENST00000407639.2_Missense_Mutation_p.P784L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.P881L|DCTN1_ENST00000409438.1_Missense_Mutation_p.P784L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	918					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TACCTTGCTGGGGGGCCGCTC	0.562																																							uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(2752-2754)CCC>CTC		dynactin 1 isoform 1							89.0	93.0	92.0					2																	74593378		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593378G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2753C>T	2.37:g.74593378G>A	ENSP00000354791:p.Pro918Leu					SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.P784L|DCTN1_uc002sku.2_Missense_Mutation_p.P784L|DCTN1_uc002skw.1_Missense_Mutation_p.P894L|DCTN1_uc010ffd.2_Missense_Mutation_p.P898L|DCTN1_uc002sky.2_Missense_Mutation_p.P881L	p.P918L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			23	3064	-			918					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2753C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517331	0.44763	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.17	5.17	0.71159	.	0.000000	0.42964	D	0.000628	T	0.68550	0.3013	L	0.50333	1.59	0.58432	D	0.999997	B;B;P;B;B;P	0.37330	0.19;0.231;0.455;0.009;0.191;0.59	B;B;B;B;B;B	0.30646	0.039;0.035;0.055;0.028;0.075;0.118	T	0.70447	-0.4869	10	0.46703	T	0.11	-8.4443	11.0586	0.47933	0.0:0.0:0.7116:0.2883	.	898;881;918;911;784;784	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	L	918;911;901;784;784;881;901;898	ENSP00000354791:P918L;ENSP00000377571:P911L;ENSP00000384844:P784L;ENSP00000387270:P784L;ENSP00000386406:P881L;ENSP00000387327:P901L;ENSP00000386843:P898L	ENSP00000354791:P918L	P	-	2	0	DCTN1	74446886	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.499000	0.73683	2.681000	0.91329	0.561000	0.74099	CCC		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		31	72	0	0	0	0.003755	0	31	72				
LRRTM4	80059	broad.mit.edu	37	2	76975980	76975980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:76975980G>T	ENST00000409093.1	-	4	1950	c.1614C>A	c.(1612-1614)tgC>tgA	p.C538*	LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.C538*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.C539*			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	538					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)		GGTGGGCCTGGCAGTACCCGA	0.537																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1612-1614)TGC>TGA		leucine rich repeat transmembrane neuronal 4							58.0	59.0	58.0					2																	76975980		1568	3582	5150	SO:0001587	stop_gained	80059					integral to membrane		g.chr2:76975980G>T	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.1614C>A	2.37:g.76975980G>T	ENSP00000386357:p.Cys538*					LRRTM4_uc002snq.2_Nonsense_Mutation_p.C538*	p.C538*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2029	-			538			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Nonsense_Mutation	SNP	ENST00000409093.1	37	c.1614C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	39	7.755609	0.98471	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7956	0.88568	0.0:0.0:1.0:0.0	.	.	.	.	X	539;538;538	.	ENSP00000386357:C538X	C	-	3	2	LRRTM4	76829488	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.552000	0.67281	2.799000	0.96334	0.650000	0.86243	TGC		0.537	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		13	31	1	0	0.000219431	0.00245	0.000267177	13	31				
REG1B	5968	broad.mit.edu	37	2	79313623	79313623	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79313623C>A	ENST00000305089.3	-	4	271	c.191G>T	c.(190-192)tGc>tTc	p.C64F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	64	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CATGTTCTGGCAATAGAGCTG	0.498																																							uc002sny.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(190-192)TGC>TTC		regenerating islet-derived 1 beta precursor							112.0	106.0	108.0					2																	79313623		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313623C>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.191G>T	2.37:g.79313623C>A	ENSP00000303206:p.Cys64Phe					REG1B_uc010ffv.1_Missense_Mutation_p.C64F|REG1B_uc010ffw.2_3'UTR	p.C64F	NM_006507	NP_006498	P48304	REG1B_HUMAN			4	303	-			64			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.191G>T	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	16.61	3.172087	0.57584	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	D;D	0.87103	-2.21;-2.21	3.65	3.65	0.41850	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.42548	D	0.000700	D	0.95931	0.8675	H	0.99336	4.52	0.48135	D	0.999595	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96244	0.9178	10	0.87932	D	0	.	11.0123	0.47669	0.0:1.0:0.0:0.0	.	64;64	Q6ICS1;P48304	.;REG1B_HUMAN	F	15;64	ENSP00000387410:C15F;ENSP00000303206:C64F	ENSP00000303206:C64F	C	-	2	0	REG1B	79167131	0.965000	0.33210	0.975000	0.42487	0.966000	0.64601	1.666000	0.37460	2.039000	0.60335	0.491000	0.48974	TGC		0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		18	80	1	0	8.28177e-16	0.007413	1.49495e-15	18	80				
CTNNA2	1496	broad.mit.edu	37	2	79878723	79878723	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79878723C>A	ENST00000402739.4	+	1	46	c.41C>A	c.(40-42)cCc>cAc	p.P14H	CTNNA2_ENST00000409266.1_Missense_Mutation_p.P14H|MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P48H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P14H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	14					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGGGACCCCAAAAGTTTG	0.398																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(40-42)CCC>CAC		catenin, alpha 2 isoform 1							89.0	88.0	89.0					2																	79878723		1866	4102	5968	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878723C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.41C>A	2.37:g.79878723C>A	ENSP00000384638:p.Pro14His					CTNNA2_uc010yse.1_Missense_Mutation_p.P14H|CTNNA2_uc010ysf.1_Missense_Mutation_p.P14H|CTNNA2_uc010ysg.1_Missense_Mutation_p.P14H|hsa-mir-4264|MI0015877_5'Flank	p.P14H	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	46	+			14					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.41C>A		.	.	.	.	.	.	.	.	.	.	C	27.7	4.858879	0.91433	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000409266;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.69806	1.11;1.11;-0.43;1.09;1.12;1.11;1.13	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	D	0.85254	0.1046	10	0.87932	D	0	.	17.8263	0.88666	0.0:1.0:0.0:0.0	.	14;14;14	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	H	14;14;14;14;48;14;14;14;14	ENSP00000418191:P14H;ENSP00000419295:P14H;ENSP00000387073:P14H;ENSP00000355398:P48H;ENSP00000384638:P14H;ENSP00000444675:P14H;ENSP00000441705:P14H	ENSP00000355398:P48H	P	+	2	0	CTNNA2	79732231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.129000	0.77225	2.805000	0.96524	0.655000	0.94253	CCC		0.398	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		15	68	1	0	1.33834e-09	0.007413	2.09242e-09	15	68				
SFTPB	6439	broad.mit.edu	37	2	85893739	85893739	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:85893739C>A	ENST00000519937.2	-	4	413		c.e4+1		SFTPB_ENST00000409383.1_Splice_Site|SFTPB_ENST00000342375.3_Splice_Site|SFTPB_ENST00000393822.3_Splice_Site			P07988	PSPB_HUMAN	surfactant protein B						organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCAGCCCTCACAGTCTGGTTC	0.622																																							uc002sqh.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e4+1		surfactant, pulmonary-associated protein B							118.0	95.0	103.0					2																	85893739		2203	4300	6503	SO:0001630	splice_region_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85893739C>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.393+1G>T	2.37:g.85893739C>A						SFTPB_uc002sqi.2_Splice_Site_p.T143_splice|SFTPB_uc002sqj.2_Splice_Site_p.T131_splice	p.T131_splice	NM_198843	NP_942140	P07988	PSPB_HUMAN			4	399	-								Q96R04	Splice_Site	SNP	ENST00000519937.2	37	c.393_splice		.	.	.	.	.	.	.	.	.	.	C	9.003	0.980517	0.18812	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000428225;ENST00000409383;ENST00000441838	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6723	0.56874	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFTPB	85747250	0.994000	0.37717	0.988000	0.46212	0.014000	0.08584	3.960000	0.56752	2.022000	0.59522	0.462000	0.41574	.		0.622	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	Intron	18	35	1	0	9.7654e-05	0.007413	0.000121435	18	35				
CD8A	925	broad.mit.edu	37	2	87017548	87017548	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:87017548C>G	ENST00000409511.2	-	5	1336	c.306G>C	c.(304-306)ctG>ctC	p.L102L	CD8A_ENST00000456996.2_Silent_p.L102L|CD8A_ENST00000538832.1_Silent_p.L143L|CD8A_ENST00000283635.3_Silent_p.L102L|CD8A_ENST00000409781.1_Silent_p.L102L|CD8A_ENST00000352580.3_Silent_p.L102L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	102	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGAAGTCGCTCAGGGTGAGGA	0.607																																							uc002srt.2		NA																	0				ovary(1)	1						c.(304-306)CTG>CTC		CD8 antigen alpha polypeptide isoform 1							61.0	68.0	66.0					2																	87017548		2203	4300	6503	SO:0001819	synonymous_variant	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017548C>G		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.306G>C	2.37:g.87017548C>G						RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Silent_p.L102L|CD8A_uc010ytn.1_Silent_p.L143L|CD8A_uc002sru.2_Silent_p.L102L	p.L102L	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1195	-			102			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	ENST00000409511.2	37	c.306G>C	CCDS1992.1																																																																																				0.607	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		5	79	0	0	0	0.000602	0	5	79				
MAL	4118	broad.mit.edu	37	2	95713808	95713808	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:95713808C>A	ENST00000309988.4	+	2	307	c.198C>A	c.(196-198)acC>acA	p.T66T	MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Silent_p.T66T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	66	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCGTGGCCACCACCACCTTGA	0.627																																							uc002stx.1		NA																	0					0						c.(196-198)ACC>ACA		T-lymphocyte maturation-associated protein							115.0	101.0	105.0					2																	95713808		2203	4300	6503	SO:0001819	synonymous_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713808C>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.198C>A	2.37:g.95713808C>A						MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.T66T|MAL_uc002sua.1_Intron	p.T66T	NM_002371	NP_002362	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	257	+			66			Helical; (Potential).|MARVEL.		Q6FH77	Silent	SNP	ENST00000309988.4	37	c.198C>A	CCDS2006.1																																																																																				0.627	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		8	23	1	0	0.00307968	0.00308	0.00357786	8	23				
ZNF2	7549	broad.mit.edu	37	2	95847751	95847751	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:95847751C>T	ENST00000340539.5	+	5	1640	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	ZNF2_ENST00000453539.2_Missense_Mutation_p.T406M|ZNF2_ENST00000425369.1_Missense_Mutation_p.T313M|ZNF2_ENST00000295210.6_Missense_Mutation_p.T355M|ZNF2_ENST00000398107.2_Missense_Mutation_p.T351M	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGTGTCCACACGGGAGAGAAG	0.507																																							uc002suf.2		NA																	0					0						c.(1174-1176)ACG>ATG		zinc finger protein 2 isoform a							70.0	77.0	75.0					2																	95847751		2133	4265	6398	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847751C>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1178C>T	2.37:g.95847751C>T	ENSP00000345392:p.Thr393Met					ZNF2_uc002sug.2_Missense_Mutation_p.T350M|ZNF2_uc010yue.1_Missense_Mutation_p.T355M|ZNF2_uc010fhs.2_Missense_Mutation_p.T313M	p.T392M	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	6	1637	+		Ovarian(717;0.00768)	392					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.1175C>T	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371071	0.61624	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	4.94	4.94	0.65067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000254	T	0.52789	0.1756	M	0.77486	2.375	0.43642	D	0.996041	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.992	T	0.57277	-0.7839	10	0.87932	D	0	-16.6944	15.7077	0.77598	0.0:1.0:0.0:0.0	.	355;351;392	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	M	351;393;313;355;406	ENSP00000381178:T351M;ENSP00000345392:T393M;ENSP00000406017:T313M;ENSP00000295210:T355M;ENSP00000411051:T406M	ENSP00000295210:T355M	T	+	2	0	ZNF2	95211478	0.171000	0.23029	0.280000	0.24747	0.620000	0.37586	2.021000	0.41020	2.581000	0.87130	0.563000	0.77884	ACG		0.507	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		24	66	0	0	0	0.002299	0	24	66				
ASTL	431705	broad.mit.edu	37	2	96795583	96795583	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:96795583C>A	ENST00000342380.2	-	8	853	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGCCTGGGGCCACTTGGGCT	0.622																																							uc010yui.1		NA																	0					0						c.(853-855)GGC>GTC		astacin-like metalloendopeptidase precursor							37.0	43.0	41.0					2																	96795583		2202	4299	6501	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795583C>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.854G>T	2.37:g.96795583C>A	ENSP00000343674:p.Gly285Val						p.G285V	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			8	854	-			285						Missense_Mutation	SNP	ENST00000342380.2	37	c.854G>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377559	0.11466	.	.	ENSG00000188886	ENST00000342380	T	0.65178	-0.14	3.92	0.527	0.17084	.	0.600149	0.14506	N	0.315419	T	0.40145	0.1105	N	0.14661	0.345	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.20571	-1.0271	10	0.24483	T	0.36	-2.2342	9.7242	0.40322	0.4997:0.5003:0.0:0.0	.	285	Q6HA08	ASTL_HUMAN	V	285	ENSP00000343674:G285V	ENSP00000343674:G285V	G	-	2	0	ASTL	96159310	0.000000	0.05858	0.002000	0.10522	0.098000	0.18820	-0.034000	0.12225	0.212000	0.20703	0.555000	0.69702	GGC		0.622	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			12	45	1	0	5.50884e-06	0.001368	7.37624e-06	12	45				
EIF5B	9669	broad.mit.edu	37	2	99976814	99976814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:99976814C>T	ENST00000289371.6	+	2	353	c.151C>T	c.(151-153)Cag>Tag	p.Q51*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAAAAAGCAGGACTTTGA	0.328																																					Colon(162;2388 2567 2705 3444)	Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	0				ovary(2)|pancreas(1)	3						c.(151-153)CAG>TAG		eukaryotic translation initiation factor 5B							29.0	26.0	27.0					2																	99976814		1794	4053	5847	SO:0001587	stop_gained	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99976814C>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.151C>T	2.37:g.99976814C>T	ENSP00000289371:p.Gln51*						p.Q51*	NM_015904	NP_056988	O60841	IF2P_HUMAN			2	335	+			51					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Nonsense_Mutation	SNP	ENST00000289371.6	37	c.151C>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646452	0.96704	.	.	ENSG00000158417	ENST00000289371	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1418	15.0129	0.71562	0.143:0.857:0.0:0.0	.	.	.	.	X	51	.	.	Q	+	1	0	EIF5B	99343246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.177000	0.58276	2.633000	0.89246	0.655000	0.94253	CAG		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		5	27	0	0	0	0.000602	0	5	27				
EIF5B	9669	broad.mit.edu	37	2	99988139	99988139	+	Missense_Mutation	SNP	G	G	A	rs201564019		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:99988139G>A	ENST00000289371.6	+	9	1700	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	500					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATACTGAGGATGCTGGATT	0.333																																					Colon(162;2388 2567 2705 3444)	Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1498-1500)GAT>AAT		eukaryotic translation initiation factor 5B		G	ASN/ASP	0,3792		0,0,1896	97.0	94.0	95.0		1498	5.6	1.0	2		95	1,8245		0,1,4122	yes	missense	EIF5B	NM_015904.3	23	0,1,6018	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	500/1221	99988139	1,12037	1896	4123	6019	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99988139G>A	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1498G>A	2.37:g.99988139G>A	ENSP00000289371:p.Asp500Asn						p.D500N	NM_015904	NP_056988	O60841	IF2P_HUMAN			9	1682	+			500					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1498G>A	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239430	0.79800	0.0	1.21E-4	ENSG00000158417	ENST00000289371	T	0.49432	0.78	5.63	5.63	0.86233	.	.	.	.	.	T	0.53110	0.1776	M	0.66939	2.045	0.80722	D	1	P	0.40000	0.698	B	0.41036	0.346	T	0.51687	-0.8674	8	.	.	.	-23.1259	19.6818	0.95967	0.0:0.0:1.0:0.0	.	500	O60841	IF2P_HUMAN	N	500	ENSP00000289371:D500N	.	D	+	1	0	EIF5B	99354571	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.335000	0.72949	2.644000	0.89710	0.650000	0.86243	GAT		0.333	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		4	24	0	0	0	0.000602	0	4	24				
SLC9A4	389015	broad.mit.edu	37	2	103095483	103095483	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:103095483A>C	ENST00000295269.4	+	2	899	c.442A>C	c.(442-444)Acc>Ccc	p.T148P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	148					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTTCATGCCCACCCGGCCCTT	0.592																																							uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(442-444)ACC>CCC		solute carrier family 9 (sodium/hydrogen							64.0	59.0	61.0					2																	103095483		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095483A>C		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.442A>C	2.37:g.103095483A>C	ENSP00000295269:p.Thr148Pro						p.T148P	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			2	899	+			148			Helical; Name=D/M4; (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.442A>C	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107614	0.56291	.	.	ENSG00000180251	ENST00000295269	T	0.15139	2.45	5.74	5.74	0.90152	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	L	0.31526	0.94	0.49299	D	0.999772	B	0.30727	0.292	B	0.32393	0.145	T	0.04991	-1.0913	10	0.35671	T	0.21	.	16.0368	0.80635	1.0:0.0:0.0:0.0	.	148	Q6AI14	SL9A4_HUMAN	P	148	ENSP00000295269:T148P	ENSP00000295269:T148P	T	+	1	0	SLC9A4	102461915	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.509000	0.81698	2.183000	0.69458	0.533000	0.62120	ACC		0.592	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		16	34	0	0	0	0.006122	0	16	34				
BUB1	699	broad.mit.edu	37	2	111431931	111431931	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:111431931G>A	ENST00000302759.6	-	2	156	c.38C>T	c.(37-39)gCc>gTc	p.A13V	BUB1_ENST00000535254.1_Intron|BUB1_ENST00000409311.1_Missense_Mutation_p.A13V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	13	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTGCATGTGGGCTTCAAGCAT	0.378																																							uc002tgc.2		NA																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(37-39)GCC>GTC		budding uninhibited by benzimidazoles 1							91.0	93.0	92.0					2																	111431931		2202	4300	6502	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111431931G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.38C>T	2.37:g.111431931G>A	ENSP00000302530:p.Ala13Val					BUB1_uc010yxh.1_Intron|BUB1_uc010fkb.2_Missense_Mutation_p.A13V|BUB1_uc002tgd.2_Missense_Mutation_p.A13V	p.A13V	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	2	150	-		Ovarian(717;0.0822)	13			BUB1 N-terminal.|Necessary for kinetochore localization.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.38C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443280	0.83993	.	.	ENSG00000169679	ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.33	5.33	0.75918	Mad3/BUB1 homology region 1 (3);	0.498061	0.22782	N	0.055717	T	0.65964	0.2742	M	0.61703	1.905	0.80722	D	1	P;D	0.56968	0.91;0.978	B;P	0.47827	0.401;0.558	T	0.64931	-0.6291	10	0.30854	T	0.27	-6.9354	16.5289	0.84352	0.0:0.0:1.0:0.0	.	13;13	E9PC26;O43683	.;BUB1_HUMAN	V	13;13;13;4;4;4	ENSP00000386701:A13V;ENSP00000302530:A13V;ENSP00000402883:A4V;ENSP00000409713:A4V;ENSP00000392219:A4V	ENSP00000302530:A13V	A	-	2	0	BUB1	111148402	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.954000	0.63631	2.500000	0.84329	0.650000	0.86243	GCC		0.378	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		14	38	0	0	0	0.00499	0	14	38				
IL1B	3553	broad.mit.edu	37	2	113588914	113588914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:113588914G>T	ENST00000263341.2	-	6	762	c.552C>A	c.(550-552)taC>taA	p.Y184*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	184					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	CGCAGGACAGGTACAGATTCT	0.463																																							uc002tii.1		NA																	0				lung(3)|breast(1)	4						c.(550-552)TAC>TAA		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						217.0	203.0	208.0					2																	113588914		2203	4300	6503	SO:0001587	stop_gained	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588914G>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.552C>A	2.37:g.113588914G>T	ENSP00000263341:p.Tyr184*					IL1B_uc002tih.1_Nonsense_Mutation_p.Y153*	p.Y184*	NM_000576	NP_000567	P01584	IL1B_HUMAN			6	639	-			184					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	37	c.552C>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788518	0.70337	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.41	3.47	0.39725	.	0.056903	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5671	6.6638	0.23029	0.2123:0.0:0.7877:0.0	.	.	.	.	X	184	.	ENSP00000263341:Y184X	Y	-	3	2	IL1B	113305385	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	2.505000	0.45424	1.521000	0.48983	0.561000	0.74099	TAC		0.463	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		45	129	1	0	3.4345e-17	0.002852	6.36211e-17	45	129				
IL37	27178	broad.mit.edu	37	2	113676314	113676314	+	Missense_Mutation	SNP	C	C	G	rs184728003	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:113676314C>G	ENST00000263326.3	+	5	627	c.585C>G	c.(583-585)aaC>aaG	p.N195K	IL37_ENST00000311328.2_Missense_Mutation_p.N169K|IL37_ENST00000349806.3_Missense_Mutation_p.N134K|IL37_ENST00000352179.3_Missense_Mutation_p.N174K|IL37_ENST00000353225.3_Missense_Mutation_p.N155K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	195					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AATTTGAGAACAGGAAACACA	0.498																																							uc002tij.2		NA																	0					0						c.(583-585)AAC>AAG		interleukin 1 family, member 7 isoform 1							71.0	76.0	74.0					2																	113676314		2203	4300	6503	SO:0001583	missense	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113676314C>G	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.585C>G	2.37:g.113676314C>G	ENSP00000263326:p.Asn195Lys					IL1F7_uc002tik.2_Missense_Mutation_p.N174K|IL1F7_uc002til.2_Missense_Mutation_p.N155K|IL1F7_uc002tim.2_Missense_Mutation_p.N134K|IL1F7_uc002tin.2_Missense_Mutation_p.N169K	p.N195K	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			5	627	+			195					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	c.585C>G	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.851541	0.00563	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.15256	3.06;3.06;2.44;2.44;3.06	3.81	-0.184	0.13280	.	1.494840	0.04606	N	0.399444	T	0.03520	0.0101	N	0.00413	-1.525	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.38436	-0.9661	10	0.02654	T	1	-0.9609	3.6556	0.08220	0.5567:0.2095:0.2338:0.0	.	169;134;155;174;195	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	K	195;174;134;155;169	ENSP00000263326:N195K;ENSP00000263327:N174K;ENSP00000263328:N134K;ENSP00000309208:N155K;ENSP00000309883:N169K	ENSP00000263326:N195K	N	+	3	2	IL37	113392785	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.026000	0.12392	-0.113000	0.11958	-0.408000	0.06270	AAC		0.498	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		8	35	0	0	0	0.00308	0	8	35				
NIFK	84365	broad.mit.edu	37	2	122488549	122488549	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:122488549C>G	ENST00000285814.4	-	4	556	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		162					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AATCGCTCCTCCATCCGTAGC	0.343																																							uc002tnk.2		NA																	0					0						c.(484-486)GAG>CAG		MKI67 interacting nucleolar phosphoprotein							112.0	112.0	112.0					2																	122488549		2202	4299	6501	SO:0001583	missense	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122488549C>G																												ENST00000285814.4:c.484G>C	2.37:g.122488549C>G	ENSP00000285814:p.Glu162Gln					MKI67IP_uc010fls.2_Missense_Mutation_p.E162Q	p.E162Q	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			4	561	-			162					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.484G>C	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890367	0.33348	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000447132;ENST00000451734	T;T;T	0.47177	2.27;0.85;1.47	5.65	4.77	0.60923	.	0.420202	0.28927	N	0.013700	T	0.51381	0.1671	L	0.55990	1.75	0.28078	N	0.932306	P;D	0.65815	0.565;0.995	B;P	0.57425	0.28;0.82	T	0.41378	-0.9512	10	0.11485	T	0.65	-27.2136	9.5218	0.39140	0.0:0.907:0.0:0.093	.	162;162	B4DSM4;Q9BYG3	.;MK67I_HUMAN	Q	162;162;57;130	ENSP00000285814:E162Q;ENSP00000406227:E57Q;ENSP00000398116:E130Q	ENSP00000285814:E162Q	E	-	1	0	MKI67IP	122205019	1.000000	0.71417	0.995000	0.50966	0.780000	0.44128	2.314000	0.43743	2.668000	0.90789	0.655000	0.94253	GAG		0.343	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			5	130	0	0	0	0.000602	0	5	130				
TSN	7247	broad.mit.edu	37	2	122519027	122519027	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:122519027C>G	ENST00000389682.3	+	4	547	c.300C>G	c.(298-300)ttC>ttG	p.F100L	TSN_ENST00000498545.1_Intron|TSN_ENST00000409193.1_Missense_Mutation_p.F95L|TSN_ENST00000536142.1_Missense_Mutation_p.F100L	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	100					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GCTTGGTCTTCTTGGCAGCAT	0.428																																							uc002tnl.2		NA																	0				breast(2)|large_intestine(1)	3						c.(298-300)TTC>TTG		translin							235.0	214.0	222.0					2																	122519027		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122519027C>G	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.300C>G	2.37:g.122519027C>G	ENSP00000374332:p.Phe100Leu					TSN_uc002tnm.2_Missense_Mutation_p.F53L|TSN_uc010yze.1_Missense_Mutation_p.F100L|TSN_uc010flt.2_Intron	p.F100L	NM_004622	NP_004613	Q15631	TSN_HUMAN			4	535	+		Ovarian(717;0.0563)|Prostate(154;0.116)	100					B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.300C>G	CCDS33284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.322716|4.322716	0.81580|0.81580	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000389682;ENST00000536142;ENST00000413418;ENST00000409193|ENST00000455432	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Translin, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76062|0.76062	0.3935|0.3935	M|M	0.84846|0.84846	2.72|2.72	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.996;0.997|.	T|T	0.78135|0.78135	-0.2322|-0.2322	9|5	0.16896|.	T|.	0.51|.	-31.5004|-31.5004	10.3559|10.3559	0.43964|0.43964	0.0:0.8507:0.0:0.1493|0.0:0.8507:0.0:0.1493	.|.	100;53;100|.	B7Z3X8;B3KRM8;Q15631|.	.;.;TSN_HUMAN|.	L|C	100;100;66;95|106	.|.	ENSP00000374332:F100L|.	F|S	+|+	3|2	2|0	TSN|TSN	122235497|122235497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.959000|1.959000	0.40412|0.40412	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.428	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		3	126	0	0	0	0.004672	0	3	126				
CNTNAP5	129684	broad.mit.edu	37	2	125284963	125284963	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:125284963A>T	ENST00000431078.1	+	10	1940	c.1576A>T	c.(1576-1578)Att>Ttt	p.I526F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	526	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAAGGACCTCATTTCAGTTCA	0.438																																							uc002tno.2		NA																	0				ovary(10)	10						c.(1576-1578)ATT>TTT		contactin associated protein-like 5 precursor							141.0	135.0	137.0					2																	125284963		1875	4107	5982	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284963A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1576A>T	2.37:g.125284963A>T	ENSP00000399013:p.Ile526Phe					CNTNAP5_uc010flu.2_Missense_Mutation_p.I527F	p.I526F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1940	+			526			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1576A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539702	0.65085	.	.	ENSG00000155052	ENST00000431078	D	0.88046	-2.33	5.67	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.46145	D	0.000302	D	0.90985	0.7165	M	0.75615	2.305	0.43175	D	0.994984	D	0.76494	0.999	D	0.72625	0.978	D	0.88404	0.3017	10	0.10902	T	0.67	.	11.7789	0.52001	0.8533:0.1467:0.0:0.0	.	526	Q8WYK1	CNTP5_HUMAN	F	526	ENSP00000399013:I526F	ENSP00000399013:I526F	I	+	1	0	CNTNAP5	125001433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.427000	0.52785	2.169000	0.68431	0.528000	0.53228	ATT		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			13	87	0	0	0	0.001368	0	13	87				
SAP130	79595	broad.mit.edu	37	2	128707786	128707786	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:128707786C>G	ENST00000259235.3	-	16	2721	c.2592G>C	c.(2590-2592)aaG>aaC	p.K864N	SAP130_ENST00000259234.6_Missense_Mutation_p.K872N|SAP130_ENST00000357702.5_Missense_Mutation_p.K899N	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	864	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCAGAAGACTCTTGGCAGTGG	0.468																																							uc002tpp.2		NA																	0				ovary(2)|skin(2)	4						c.(2590-2592)AAG>AAC		Sin3A-associated protein, 130kDa isoform b							229.0	208.0	215.0					2																	128707786		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707786C>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2592G>C	2.37:g.128707786C>G	ENSP00000259235:p.Lys864Asn					SAP130_uc002tpn.2_Missense_Mutation_p.K624N|SAP130_uc002tpo.2_Missense_Mutation_p.K644N|SAP130_uc010fmd.2_Missense_Mutation_p.K899N	p.K864N	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	16	2724	-	Colorectal(110;0.1)		864			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.2592G>C	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462225	0.63513	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.3	3.48	0.39840	.	0.043552	0.85682	D	0.000000	T	0.43809	0.1264	L	0.36672	1.1	0.47819	D	0.999528	P;P;P;P	0.51933	0.949;0.949;0.718;0.718	P;P;B;B	0.45881	0.496;0.496;0.215;0.215	T	0.36286	-0.9754	9	0.72032	D	0.01	-8.622	6.9149	0.24354	0.0:0.6032:0.0:0.3968	.	899;864;429;501	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	N	899;864;872	.	ENSP00000259234:K872N	K	-	3	2	SAP130	128424256	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.240000	0.32731	0.599000	0.29845	0.462000	0.41574	AAG		0.468	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		11	163	0	0	0	0.001368	0	11	163				
TUBA3E	112714	broad.mit.edu	37	2	130951770	130951770	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:130951770G>T	ENST00000312988.7	-	4	745	c.645C>A	c.(643-645)cgC>cgA	p.R215R		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	215					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGTCCAGGTTGCGCCGACATA	0.547																																							uc002tqv.2		NA																	0				skin(1)	1						c.(643-645)CGC>CGA		tubulin, alpha 3e							109.0	74.0	86.0					2																	130951770		2203	4296	6499	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951770G>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.645C>A	2.37:g.130951770G>T							p.R215R	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	746	-	Colorectal(110;0.1)		215						Silent	SNP	ENST00000312988.7	37	c.645C>A	CCDS2158.1																																																																																				0.547	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		15	53	1	0	7.93312e-07	0.00245	1.1075e-06	15	53				
TUBA3E	112714	broad.mit.edu	37	2	130951938	130951938	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:130951938C>A	ENST00000312988.7	-	4	577	c.477G>T	c.(475-477)gtG>gtT	p.V159V		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	159					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGCTGTAATCCACTGAGAGCC	0.582																																							uc002tqv.2		NA																	0				skin(1)	1						c.(475-477)GTG>GTT		tubulin, alpha 3e							92.0	96.0	95.0					2																	130951938		2202	4298	6500	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951938C>A	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.477G>T	2.37:g.130951938C>A							p.V159V	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	578	-	Colorectal(110;0.1)		159						Silent	SNP	ENST00000312988.7	37	c.477G>T	CCDS2158.1																																																																																				0.582	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		23	64	1	0	7.88262e-20	0.00333	1.51018e-19	23	64				
TUBA3D	113457	broad.mit.edu	37	2	132237911	132237911	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:132237911C>A	ENST00000321253.6	+	4	752	c.645C>A	c.(643-645)cgC>cgA	p.R215R	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	215					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TATGTCGGCGCAACCTGGACA	0.547																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	0					0						c.(643-645)CGC>CGA		tubulin, alpha 3d							46.0	55.0	52.0					2																	132237911		2203	4294	6497	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237911C>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.645C>A	2.37:g.132237911C>A							p.R215R	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	752	+			215					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.645C>A	CCDS33290.1																																																																																				0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		8	175	1	0	0.00244969	0.00245	0.00286082	8	175				
MGAT5	4249	broad.mit.edu	37	2	135206372	135206372	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:135206372G>T	ENST00000409645.1	+	17	2432	c.2180G>T	c.(2179-2181)cGg>cTg	p.R727L	MGAT5_ENST00000281923.2_Missense_Mutation_p.R727L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	727					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGCCCCTGCCGGGACTTCATC	0.602																																							uc002ttv.1		NA																	0				ovary(2)|skin(1)	3						c.(2179-2181)CGG>CTG		N-acetylglucosaminyltransferase V							50.0	53.0	52.0					2																	135206372		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135206372G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2180G>T	2.37:g.135206372G>T	ENSP00000386377:p.Arg727Leu					LOC151162_uc002ttw.3_5'Flank	p.R727L	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	16	2325	+			727			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2180G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348043	0.95807	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.81682	2.555	0.80722	D	1	P	0.38167	0.621	B	0.42282	0.382	T	0.76710	-0.2859	9	0.87932	D	0	-19.8833	18.7668	0.91876	0.0:0.0:1.0:0.0	.	727	Q09328	MGT5A_HUMAN	L	727	.	ENSP00000281923:R727L	R	+	2	0	MGAT5	134922842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.702000	0.98712	2.523000	0.85059	0.655000	0.94253	CGG		0.602	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		12	37	1	0	4.3838e-07	0.001855	6.19079e-07	12	37				
MAP3K19	80122	broad.mit.edu	37	2	135744958	135744958	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:135744958G>T	ENST00000375845.3	-	7	1514	c.1484C>A	c.(1483-1485)cCc>cAc	p.P495H	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P512H|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P382H|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	495							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGGTTCCTTGGGGCTTCCATC	0.428																																							uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1483-1485)CCC>CAC		Yeast Sps1/Ste20-related kinase 4 isoform 1							138.0	132.0	134.0					2																	135744958		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744958G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1484C>A	2.37:g.135744958G>T	ENSP00000365005:p.Pro495His					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P382H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P223H|YSK4_uc002tui.3_Missense_Mutation_p.P512H	p.P495H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1515	-			495					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1484C>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019751	0.19355	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.73258	-0.73;-0.7;1.59	4.98	4.98	0.66077	.	0.000000	0.48767	D	0.000176	T	0.77685	0.4167	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.68483	0.944;0.958;0.879	T	0.80405	-0.1396	10	0.87932	D	0	.	18.4485	0.90695	0.0:0.0:1.0:0.0	.	382;512;495	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	495;382;512	ENSP00000365005:P495H;ENSP00000351140:P382H;ENSP00000376647:P512H	ENSP00000351140:P382H	P	-	2	0	YSK4	135461428	0.988000	0.35896	0.959000	0.39883	0.085000	0.17905	3.117000	0.50407	2.579000	0.87056	0.591000	0.81541	CCC		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		21	55	1	0	1.50039e-11	0.001882	2.49693e-11	21	55				
THSD7B	80731	broad.mit.edu	37	2	138169276	138169276	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:138169276T>A	ENST00000409968.1	+	14	2971	c.2793T>A	c.(2791-2793)taT>taA	p.Y931*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Y931*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Y900*|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	931	TSP type-1 12. {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)		CCCAACCTTATGGAAACTGGT	0.483																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2698-2700)TAT>TAA		thrombospondin, type I, domain containing 7B							143.0	137.0	139.0					2																	138169276		1920	4122	6042	SO:0001587	stop_gained	80731							g.chr2:138169276T>A			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.2793T>A	2.37:g.138169276T>A	ENSP00000387145:p.Tyr931*					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Nonsense_Mutation_p.Y790*	p.Y900*	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2700	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.2700T>A		.	.	.	.	.	.	.	.	.	.	T	42	9.613031	0.99219	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.84	2.06	0.26882	.	0.397011	0.29080	N	0.013213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2982	0.37829	0.0:0.2643:0.0:0.7356	.	.	.	.	X	931;931;900	.	ENSP00000272643:Y931X	Y	+	3	2	THSD7B	137885746	0.073000	0.21202	1.000000	0.80357	0.939000	0.58152	-0.116000	0.10724	0.461000	0.27071	0.455000	0.32223	TAT		0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		27	104	0	0	0	0.003954	0	27	104				
LRP1B	53353	broad.mit.edu	37	2	141773396	141773396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:141773396G>T	ENST00000389484.3	-	13	3030	c.2059C>A	c.(2059-2061)Cag>Aag	p.Q687K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	687					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAAAAATCTGCCGATTGAAT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2059-2061)CAG>AAG		low density lipoprotein-related protein 1B							151.0	147.0	148.0					2																	141773396		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773396G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2059C>A	2.37:g.141773396G>T	ENSP00000374135:p.Gln687Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.Q687K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	13	3031	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	687			Extracellular (Potential).|LDL-receptor class B 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2059C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	6.119	0.390216	0.11581	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93426	-3.22	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.279939	0.29417	U	0.012220	D	0.88247	0.6385	N	0.25485	0.75	0.30100	N	0.807547	B	0.09022	0.002	B	0.15052	0.012	T	0.72427	-0.4297	10	0.06099	T	0.92	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	687	Q9NZR2	LRP1B_HUMAN	K	687;625	ENSP00000374135:Q687K	ENSP00000374135:Q687K	Q	-	1	0	LRP1B	141489866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.567000	0.53813	2.866000	0.98385	0.650000	0.86243	CAG		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	55	1	0	5.16669e-11	0.000978	8.46202e-11	12	55				
TNFAIP6	7130	broad.mit.edu	37	2	152220468	152220468	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:152220468G>A	ENST00000243347.3	+	2	181	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	36	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ACGAGCAGCCGGTGTGTACCA	0.483																																							uc002txk.2		NA																	0					0						c.(106-108)GGT>AGT		tumor necrosis factor, alpha-induced protein 6							79.0	74.0	76.0					2																	152220468		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152220468G>A		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.106G>A	2.37:g.152220468G>A	ENSP00000243347:p.Gly36Ser						p.G36S	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	182	+			36			Link.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.106G>A	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403661	0.96051	.	.	ENSG00000123610	ENST00000243347	T	0.07567	3.18	5.85	5.85	0.93711	C-type lectin fold (1);Link (3);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38520	-0.9657	10	0.48119	T	0.1	.	20.1589	0.98128	0.0:0.0:1.0:0.0	.	36	P98066	TSG6_HUMAN	S	36	ENSP00000243347:G36S	ENSP00000243347:G36S	G	+	1	0	TNFAIP6	151928714	1.000000	0.71417	0.913000	0.36048	0.874000	0.50279	9.111000	0.94308	2.769000	0.95229	0.650000	0.86243	GGT		0.483	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		4	55	0	0	0	0.001168	0	4	55				
PLA2R1	22925	broad.mit.edu	37	2	160806229	160806229	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:160806229T>A	ENST00000283243.7	-	25	3805	c.3599A>T	c.(3598-3600)gAt>gTt	p.D1200V	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1200V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1200	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGACTCCTCATCTTTCCAAAA	0.493																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(3598-3600)GAT>GTT		phospholipase A2 receptor 1 isoform 1 precursor							92.0	88.0	90.0					2																	160806229		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160806229T>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3599A>T	2.37:g.160806229T>A	ENSP00000283243:p.Asp1200Val					PLA2R1_uc010zcp.1_Missense_Mutation_p.D1200V|PLA2R1_uc002ubf.2_Missense_Mutation_p.D1200V	p.D1200V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			25	3806	-			1200			Extracellular (Potential).|C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.3599A>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259899	0.80246	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.53857	0.6;0.6	5.8	5.8	0.92144	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.124691	0.51477	D	0.000095	T	0.68146	0.2969	L	0.56396	1.775	0.80722	D	1	B;D;D	0.76494	0.255;0.995;0.999	B;D;D	0.71184	0.411;0.947;0.972	T	0.66085	-0.6011	10	0.35671	T	0.21	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	1200;1200;1200	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	V	1200	ENSP00000283243:D1200V;ENSP00000376524:D1200V	ENSP00000283243:D1200V	D	-	2	0	PLA2R1	160514475	1.000000	0.71417	0.981000	0.43875	0.782000	0.44232	6.030000	0.70903	2.216000	0.71823	0.533000	0.62120	GAT		0.493	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			14	44	0	0	0	0.004007	0	14	44				
ITGB6	3694	broad.mit.edu	37	2	160964216	160964216	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:160964216C>G	ENST00000283249.2	-	14	2479	c.2242G>C	c.(2242-2244)Gaa>Caa	p.E748Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.E748Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.E706Q|ITGB6_ENST00000409967.2_Missense_Mutation_p.E641Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	748	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTTGATCGTTCTGCTTCAAAT	0.478																																							uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2242-2244)GAA>CAA		integrin, beta 6 precursor							165.0	158.0	160.0					2																	160964216		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964216C>G		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2242G>C	2.37:g.160964216C>G	ENSP00000283249:p.Glu748Gln					ITGB6_uc010fou.2_Missense_Mutation_p.E748Q|ITGB6_uc010zcq.1_Missense_Mutation_p.E706Q|ITGB6_uc010fov.1_Missense_Mutation_p.E748Q	p.E748Q	NM_000888	NP_000879	P18564	ITB6_HUMAN			14	2258	-			748			Cytoplasmic (Potential).|Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2242G>C	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055874	0.93793	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.79	5.79	0.91817	Integrin beta subunit, cytoplasmic (2);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97855	1.0277	10	0.72032	D	0.01	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	706;748	E9PEE8;P18564	.;ITB6_HUMAN	Q	748;706;641;748	ENSP00000283249:E748Q;ENSP00000408024:E706Q;ENSP00000386828:E641Q;ENSP00000386367:E748Q	ENSP00000283249:E748Q	E	-	1	0	ITGB6	160672462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.739000	0.93911	0.655000	0.94253	GAA		0.478	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	118	0	0	0	0.00308	0	7	118				
FIGN	55137	broad.mit.edu	37	2	164467883	164467883	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:164467883C>A	ENST00000333129.3	-	3	773	c.459G>T	c.(457-459)ggG>ggT	p.G153G	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	153					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGCTGGCTACCCCAGGAGAGC	0.527																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(457-459)GGG>GGT		fidgetin							85.0	83.0	84.0					2																	164467883		1959	4157	6116	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467883C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.459G>T	2.37:g.164467883C>A							p.G153G	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	770	-			153					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.459G>T	CCDS2221.2																																																																																				0.527	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	72	1	0	0.000442599	0.006214	0.000529778	10	72				
SCN2A	6326	broad.mit.edu	37	2	166229750	166229750	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:166229750T>A	ENST00000375437.2	+	21	4155	c.3865T>A	c.(3865-3867)Tta>Ata	p.L1289I	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1289I|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1289I|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1289I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1289					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGGTTAGCTTAACTGCAAA	0.413																																							uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(3865-3867)TTA>ATA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						162.0	160.0	160.0					2																	166229750		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229750T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3865T>A	2.37:g.166229750T>A	ENSP00000364586:p.Leu1289Ile					SCN2A_uc002udd.2_Missense_Mutation_p.L1289I|SCN2A_uc002ude.2_Missense_Mutation_p.L1289I	p.L1289I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			21	4155	+			1289			III.|Helical; Name=S3 of repeat III; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3865T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883190	0.72410	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.87	3.5	0.40072	Ion transport (1);	0.000000	0.52532	D	0.000063	D	0.97776	0.9270	L	0.39514	1.22	0.40942	D	0.984471	D;D	0.71674	0.994;0.998	P;D	0.87578	0.905;0.998	D	0.97294	0.9926	10	0.87932	D	0	.	8.8	0.34903	0.0:0.203:0.0:0.797	.	1289;1289	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1289	ENSP00000364586:L1289I;ENSP00000349973:L1289I;ENSP00000283256:L1289I;ENSP00000364576:L1289I	ENSP00000283256:L1289I	L	+	1	2	SCN2A	165937996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.061000	0.30542	0.567000	0.29293	0.533000	0.62120	TTA		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		27	95	0	0	0	0.001786	0	27	95				
SCN2A	6326	broad.mit.edu	37	2	166246119	166246119	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:166246119G>T	ENST00000375437.2	+	27	6093	c.5803G>T	c.(5803-5805)Gac>Tac	p.D1935Y	SCN2A_ENST00000283256.6_Missense_Mutation_p.D1935Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1935Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1935Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1935					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATACAAGAAAGACAAAGGCAA	0.388																																							uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(5803-5805)GAC>TAC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						76.0	72.0	73.0					2																	166246119		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246119G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5803G>T	2.37:g.166246119G>T	ENSP00000364586:p.Asp1935Tyr					SCN2A_uc002udd.2_Missense_Mutation_p.D1935Y|SCN2A_uc002ude.2_Missense_Mutation_p.D1935Y	p.D1935Y	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	6093	+			1935					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5803G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008096	0.35415	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.87	5.87	0.94306	.	0.846463	0.10032	N	0.724542	D	0.96679	0.8916	L	0.59436	1.845	0.37420	D	0.913619	P;P	0.48016	0.904;0.786	P;P	0.57911	0.829;0.594	D	0.95029	0.8167	10	0.72032	D	0.01	.	13.4106	0.60940	0.0717:0.0:0.9283:0.0	.	1935;1935	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	1935	ENSP00000364586:D1935Y;ENSP00000349973:D1935Y;ENSP00000283256:D1935Y;ENSP00000364576:D1935Y	ENSP00000283256:D1935Y	D	+	1	0	SCN2A	165954365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.352000	0.59404	2.785000	0.95823	0.585000	0.79938	GAC		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	65	1	0	4.68919e-08	0.008291	6.92803e-08	11	65				
XIRP2	129446	broad.mit.edu	37	2	168103862	168103862	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168103862C>A	ENST00000409195.1	+	9	6049	c.5960C>A	c.(5959-5961)gCg>gAg	p.A1987E	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1765E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1987E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1812					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGAGCCAGCGGCCAAGTGG	0.463																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5959-5961)GCG>GAG		xin actin-binding repeat containing 2 isoform 1							44.0	44.0	44.0					2																	168103862		1910	4116	6026	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103862C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5960C>A	2.37:g.168103862C>A	ENSP00000386840:p.Ala1987Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1812E|XIRP2_uc010fpq.2_Missense_Mutation_p.A1765E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.A1987E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5978	+			1812					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5960C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.388	-0.925044	0.02377	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02472	4.29;4.29;4.28	5.51	-0.15	0.13416	.	1.458410	0.03661	N	0.242617	T	0.03390	0.0098	L	0.46157	1.445	0.09310	N	1	B;B;B	0.28208	0.073;0.12;0.203	B;B;B	0.23852	0.022;0.049;0.049	T	0.47195	-0.9136	10	0.20046	T	0.44	-3.4251	6.0356	0.19706	0.2978:0.4871:0.0:0.2151	.	1812;1812;1765	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1987;1987;1765	ENSP00000386840:A1987E;ENSP00000295237:A1987E;ENSP00000387255:A1765E	ENSP00000295237:A1987E	A	+	2	0	XIRP2	167812108	0.000000	0.05858	0.089000	0.20774	0.018000	0.09664	-0.089000	0.11180	0.040000	0.15660	-0.157000	0.13467	GCG		0.463	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	36	1	0	0.000602214	0.000602	0.000715729	5	36				
XIRP2	129446	broad.mit.edu	37	2	168103880	168103880	+	Missense_Mutation	SNP	G	G	A	rs371858271		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168103880G>A	ENST00000409195.1	+	9	6067	c.5978G>A	c.(5977-5979)gGa>gAa	p.G1993E	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1771E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1993E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1818					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGCAAGGGGGAGCAGATACT	0.458																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5977-5979)GGA>GAA		xin actin-binding repeat containing 2 isoform 1							48.0	47.0	47.0					2																	168103880		1899	4115	6014	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103880G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5978G>A	2.37:g.168103880G>A	ENSP00000386840:p.Gly1993Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1818E|XIRP2_uc010fpq.2_Missense_Mutation_p.G1771E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.G1993E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5996	+			1818					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5978G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.311137	0.01342	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02369	4.32;4.32;4.32	5.51	-3.65	0.04502	.	1.622170	0.02931	N	0.139225	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	B;B;B	0.17038	0.007;0.02;0.005	B;B;B	0.16722	0.004;0.016;0.006	T	0.45086	-0.9285	10	0.20046	T	0.44	-0.1953	14.2832	0.66226	0.7514:0.0:0.2486:0.0	.	1818;1818;1771	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1993;1993;1771	ENSP00000386840:G1993E;ENSP00000295237:G1993E;ENSP00000387255:G1771E	ENSP00000295237:G1993E	G	+	2	0	XIRP2	167812126	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.722000	0.04958	-0.641000	0.05487	-0.142000	0.14014	GGA		0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	30	0	0	0	0.001855	0	12	30				
XIRP2	129446	broad.mit.edu	37	2	168104711	168104711	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168104711C>G	ENST00000409195.1	+	9	6898	c.6809C>G	c.(6808-6810)tCc>tGc	p.S2270C	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2048C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2270C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2095					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGGAAAGGTCCTTGAATCCA	0.428																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6808-6810)TCC>TGC		xin actin-binding repeat containing 2 isoform 1							69.0	66.0	67.0					2																	168104711		1871	4090	5961	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104711C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6809C>G	2.37:g.168104711C>G	ENSP00000386840:p.Ser2270Cys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2095C|XIRP2_uc010fpq.2_Missense_Mutation_p.S2048C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.S2270C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6827	+			2095					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6809C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541058	0.65085	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03386	3.95;3.95;3.95	6.17	5.28	0.74379	.	0.556583	0.20525	N	0.090625	T	0.16128	0.0388	M	0.67953	2.075	0.40920	D	0.984307	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.72338	0.87;0.961;0.977	T	0.00359	-1.1791	10	0.66056	D	0.02	-1.7132	13.9935	0.64380	0.1518:0.8482:0.0:0.0	.	2095;2095;2048	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	2270;2270;2048	ENSP00000386840:S2270C;ENSP00000295237:S2270C;ENSP00000387255:S2048C	ENSP00000295237:S2270C	S	+	2	0	XIRP2	167812957	0.031000	0.19500	0.992000	0.48379	0.992000	0.81027	0.551000	0.23361	1.582000	0.49881	0.655000	0.94253	TCC		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	41	0	0	0	0.008291	0	10	41				
LRP2	4036	broad.mit.edu	37	2	170058194	170058194	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170058194A>T	ENST00000263816.3	-	44	8681	c.8396T>A	c.(8395-8397)aTc>aAc	p.I2799N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2799	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	ACCATTGCAGATAAACTCACG	0.438																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8395-8397)ATC>AAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						167.0	150.0	155.0					2																	170058194		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.chr2:170058194A>T		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.8396T>A	2.37:g.170058194A>T	ENSP00000263816:p.Ile2799Asn						p.I2799N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8609	-			2799			LDL-receptor class A 18.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8396T>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275976	0.80580	.	.	ENSG00000081479	ENST00000263816	D	0.95342	-3.68	5.92	5.92	0.95590	.	0.055992	0.64402	D	0.000001	D	0.95072	0.8404	L	0.52905	1.665	0.80722	D	1	P	0.42456	0.78	P	0.50231	0.635	D	0.95297	0.8400	10	0.66056	D	0.02	.	16.3678	0.83341	1.0:0.0:0.0:0.0	.	2799	P98164	LRP2_HUMAN	N	2799	ENSP00000263816:I2799N	ENSP00000263816:I2799N	I	-	2	0	LRP2	169766440	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	9.195000	0.94971	2.254000	0.74563	0.528000	0.53228	ATC		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		13	43	0	0	0	0.00245	0	13	43				
LRP2	4036	broad.mit.edu	37	2	170092507	170092507	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170092507A>T	ENST00000263816.3	-	29	5048	c.4763T>A	c.(4762-4764)aTg>aAg	p.M1588K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1588					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)"""	GACAGTGCGCATGCTGCCGTC	0.522																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4762-4764)ATG>AAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						97.0	81.0	86.0					2																	170092507		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.chr2:170092507A>T		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.4763T>A	2.37:g.170092507A>T	ENSP00000263816:p.Met1588Lys						p.M1588K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	4976	-			1588			LDL-receptor class B 12.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4763T>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	8.036	0.762754	0.15914	.	.	ENSG00000081479	ENST00000263816	D	0.95342	-3.68	5.59	-1.48	0.08745	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.814547	0.11632	N	0.544701	D	0.85168	0.5635	N	0.16833	0.445	0.52501	D	0.99995	B	0.25563	0.129	B	0.27887	0.084	T	0.70890	-0.4749	10	0.18276	T	0.48	.	4.5736	0.12223	0.5928:0.0:0.1899:0.2173	.	1588	P98164	LRP2_HUMAN	K	1588	ENSP00000263816:M1588K	ENSP00000263816:M1588K	M	-	2	0	LRP2	169800753	0.956000	0.32656	0.093000	0.20910	0.131000	0.20780	2.876000	0.48498	-0.076000	0.12775	-0.256000	0.11100	ATG		0.522	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	31	0	0	0	0.008291	0	8	31				
KLHL41	10324	broad.mit.edu	37	2	170367183	170367183	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170367183G>A	ENST00000284669.1	+	1	972	c.895G>A	c.(895-897)Gga>Aga	p.G299R	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	299					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TCCCAGGCATGGAATGTTTGT	0.473																																							uc002ueu.1		NA																	0					0						c.(895-897)GGA>AGA		kelch repeat and BTB (POZ) domain containing 10							138.0	138.0	138.0					2																	170367183		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170367183G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.895G>A	2.37:g.170367183G>A	ENSP00000284669:p.Gly299Arg					KBTBD10_uc010zdh.1_Intron	p.G299R	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	972	+			299					Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.895G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130981	0.77549	.	.	ENSG00000239474	ENST00000284669	T	0.73789	-0.78	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.86715	0.1938	10	0.72032	D	0.01	.	19.0078	0.92859	0.0:0.0:1.0:0.0	.	299	O60662	KBTBA_HUMAN	R	299	ENSP00000284669:G299R	ENSP00000284669:G299R	G	+	1	0	KBTBD10	170075429	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.497000	0.84241	0.467000	0.42956	GGA		0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		12	62	0	0	0	0.000978	0	12	62				
FASTKD1	79675	broad.mit.edu	37	2	170403179	170403179	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170403179G>C	ENST00000453153.2	-	8	1596	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S417C	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	417					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GACCAGAACAGACACCTCAGT	0.373																																							uc002uev.3		NA																	0				ovary(4)	4						c.(1249-1251)TCT>TGT		FAST kinase domains 1							49.0	53.0	52.0					2																	170403179		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170403179G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1250C>G	2.37:g.170403179G>C	ENSP00000400513:p.Ser417Cys					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S403C	p.S417C	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			8	1638	-			417					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.1250C>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209067	0.09757	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.20332	2.09;2.08	4.17	2.26	0.28386	.	0.571968	0.19670	N	0.108776	T	0.18045	0.0433	L	0.35854	1.095	0.30082	N	0.809113	B;B	0.21821	0.061;0.036	B;B	0.18561	0.022;0.01	T	0.10823	-1.0613	10	0.56958	D	0.05	-5.8996	13.9007	0.63802	0.0:0.2919:0.7081:0.0	.	417;417	Q53R41-2;Q53R41	.;FAKD1_HUMAN	C	417	ENSP00000400513:S417C;ENSP00000403229:S417C	ENSP00000400513:S417C	S	-	2	0	FASTKD1	170111425	0.885000	0.30320	0.009000	0.14445	0.007000	0.05969	2.391000	0.44424	0.467000	0.27218	0.563000	0.77884	TCT		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		3	64	0	0	0	0.004672	0	3	64				
FASTKD1	79675	broad.mit.edu	37	2	170417034	170417034	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170417034T>C	ENST00000453153.2	-	5	1180	c.834A>G	c.(832-834)ctA>ctG	p.L278L	FASTKD1_ENST00000453929.2_Silent_p.L278L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	278					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TATTAAATTGTAGAAATTTGT	0.284																																							uc002uev.3		NA																	0				ovary(4)	4						c.(832-834)CTA>CTG		FAST kinase domains 1							47.0	53.0	51.0					2																	170417034		2185	4291	6476	SO:0001819	synonymous_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170417034T>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.834A>G	2.37:g.170417034T>C						FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Silent_p.L264L|FASTKD1_uc002uey.2_Silent_p.L241L	p.L278L	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			5	1222	-			278					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	c.834A>G	CCDS33318.1																																																																																				0.284	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		22	70	0	0	0	0.00278	0	22	70				
ITGA6	3655	broad.mit.edu	37	2	173352066	173352066	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:173352066C>A	ENST00000264106.6	+	16	2365	c.2162C>A	c.(2161-2163)cCt>cAt	p.P721H	ITGA6_ENST00000409080.1_Missense_Mutation_p.P682H|ITGA6_ENST00000343713.4_Missense_Mutation_p.P677H|ITGA6_ENST00000264107.7_Missense_Mutation_p.P682H|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.P563H|ITGA6_ENST00000375221.2_Missense_Mutation_p.P721H			P23229	ITA6_HUMAN	integrin, alpha 6	721					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)			ACAAACAGCCCTTCCAACCCA	0.378																																							uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(2044-2046)CCT>CAT		integrin alpha chain, alpha 6 isoform a							72.0	74.0	73.0					2																	173352066		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.chr2:173352066C>A		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.2162C>A	2.37:g.173352066C>A	ENSP00000264106:p.Pro721His					ITGA6_uc010zdy.1_Missense_Mutation_p.P563H|ITGA6_uc002uho.1_Missense_Mutation_p.P682H|ITGA6_uc010fqm.1_Missense_Mutation_p.P328H	p.P682H	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		15	2248	+			721			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2045C>A		.	.	.	.	.	.	.	.	.	.	C	14.74	2.625537	0.46840	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.69306	-0.05;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.39	5.51	3.73	0.42828	.	0.000000	0.64402	D	0.000001	T	0.74543	0.3730	M	0.81112	2.525	0.49483	D	0.999795	B;P;B;B	0.45594	0.153;0.862;0.153;0.153	B;P;B;B	0.49953	0.081;0.627;0.081;0.081	T	0.76271	-0.3020	10	0.62326	D	0.03	.	11.9096	0.52731	0.0:0.8593:0.0:0.1407	.	677;721;682;682	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	H	563;682;721;721;677;682;721;677	ENSP00000386614:P563H;ENSP00000264107:P682H;ENSP00000264106:P721H;ENSP00000364369:P721H;ENSP00000341078:P677H;ENSP00000386896:P682H;ENSP00000406694:P721H;ENSP00000394169:P677H	ENSP00000264106:P721H	P	+	2	0	ITGA6	173060312	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.537000	0.67186	0.693000	0.31634	0.655000	0.94253	CCT		0.378	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				8	66	1	0	0.00307968	0.00308	0.00357786	8	66				
ZAK	51776	broad.mit.edu	37	2	174131331	174131332	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:174131331_174131332TG>CT	ENST00000375213.3	+	20	2334_2335	c.2256_2257TG>CT	c.(2254-2259)acTGac>acCTac	p.D753Y	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D753Y|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		753					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ACCCTGAGACTGACTCAAGAGC	0.554																																							uc002uhz.2		NA																	0				lung(3)|stomach(1)|ovary(1)|skin(1)	6						c.(2254-2259)ACTGAC>ACCTAC		MLK-related kinase isoform 1																																				SO:0001583	missense	51776				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr2:174131331_174131332TG>CT																												Exception_encountered	2.37:g.174131331_174131332delinsCT	ENSP00000364361:p.Asp753Tyr					uc002uib.2_Intron	p.D753Y	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		20	2456_2457	+			753					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	DNP	ENST00000375213.3	37	c.2256_2257TG>CT	CCDS42777.1																																																																																				0.554	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			13	40	0	0	0	0.004672	0	13	40				
HOXD1	3231	broad.mit.edu	37	2	177054838	177054838	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:177054838G>T	ENST00000331462.4	+	2	1178	c.955G>T	c.(955-957)Ggc>Tgc	p.G319C	HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	319					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CAAGAACCCCGGCAGCCCTTC	0.587																																							uc002ukv.3		NA																	0					0						c.(955-957)GGC>TGC		homeobox D1							48.0	54.0	52.0					2																	177054838		2203	4300	6503	SO:0001583	missense	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177054838G>T		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.955G>T	2.37:g.177054838G>T	ENSP00000328598:p.Gly319Cys					HOXD1_uc010fqy.2_3'UTR|HOXD1_uc010zez.1_Missense_Mutation_p.G319C	p.G319C	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	2	1178	+			319					B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	c.955G>T	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140699	0.37825	.	.	ENSG00000128645	ENST00000331462	D	0.90844	-2.74	5.84	4.01	0.46588	.	0.438581	0.19175	N	0.120824	D	0.87438	0.6177	N	0.24115	0.695	0.24971	N	0.991669	D;D	0.57899	0.981;0.981	P;P	0.51806	0.68;0.68	T	0.79783	-0.1658	10	0.54805	T	0.06	.	10.3308	0.43820	0.0735:0.1361:0.7904:0.0	.	319;319	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	C	319	ENSP00000328598:G319C	ENSP00000328598:G319C	G	+	1	0	HOXD1	176763084	0.003000	0.15002	0.048000	0.18961	0.182000	0.23217	1.190000	0.32126	0.782000	0.33613	0.655000	0.94253	GGC		0.587	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			10	54	1	0	9.70103e-10	0.008291	1.53276e-09	10	54				
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179466465C>A	ENST00000591111.1	-	236	50653	c.50429G>T	c.(50428-50430)cGa>cTa	p.R16810L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9578L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15883L|TTN_ENST00000460472.2_Missense_Mutation_p.R9386L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9511L|TTN_ENST00000589042.1_Missense_Mutation_p.R18451L|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16810	Ig-like 101.				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)			TGTATGAGATCGTTTACACTC	0.363																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47647-47649)CGA>CTA		titin isoform N2-A							133.0	120.0	124.0					2																	179466465		1849	4089	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466465C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50429G>T	2.37:g.179466465C>A	ENSP00000465570:p.Arg16810Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9578L|TTN_uc010zfi.1_Missense_Mutation_p.R9511L|TTN_uc010zfj.1_Missense_Mutation_p.R9386L	p.R15883L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		235	47872	-			16810					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.47648G>T		.	.	.	.	.	.	.	.	.	.	C	15.88	2.963075	0.53507	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61553	0.2356	L	0.45698	1.435	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61426	-0.7065	9	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	9386;9511;9578;16810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15883;9386;9578;9511;9386	ENSP00000343764:R15883L;ENSP00000434586:R9386L;ENSP00000340554:R9578L;ENSP00000352154:R9511L	ENSP00000340554:R9578L	R	-	2	0	TTN	179174710	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.664000	0.68045	2.746000	0.94184	0.563000	0.77884	CGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	99	1	0	1.33834e-09	0.007413	2.09242e-09	18	99				
TTN	7273	broad.mit.edu	37	2	179472235	179472235	+	Missense_Mutation	SNP	G	G	T	rs369262757		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179472235G>T	ENST00000591111.1	-	227	48481	c.48257C>A	c.(48256-48258)tCt>tAt	p.S16086Y	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8854Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15159Y|TTN_ENST00000460472.2_Missense_Mutation_p.S8662Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8787Y|TTN_ENST00000589042.1_Missense_Mutation_p.S17727Y|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16086	Ig-like 99.				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)			AATTAGTTCAGATTTGGTTCC	0.448																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45475-45477)TCT>TAT		titin isoform N2-A							402.0	377.0	385.0					2																	179472235		1904	4129	6033	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472235G>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.48257C>A	2.37:g.179472235G>T	ENSP00000465570:p.Ser16086Tyr					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S8854Y|TTN_uc010zfi.1_Missense_Mutation_p.S8787Y|TTN_uc010zfj.1_Missense_Mutation_p.S8662Y	p.S15159Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	45700	-			16086					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.45476C>A		.	.	.	.	.	.	.	.	.	.	G	11.33	1.607395	0.28623	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66117	0.2757	M	0.68317	2.08	0.51767	D	0.999935	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	T	0.65928	-0.6049	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	8662;8787;8854;16086	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	15159;8662;8854;8787;8662	ENSP00000343764:S15159Y;ENSP00000434586:S8662Y;ENSP00000340554:S8854Y;ENSP00000352154:S8787Y	ENSP00000340554:S8854Y	S	-	2	0	TTN	179180480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.072000	0.64389	2.840000	0.97914	0.655000	0.94253	TCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	421	1	0	1.58986e-06	0.008291	2.20122e-06	10	421				
TTN	7273	broad.mit.edu	37	2	179594220	179594220	+	Missense_Mutation	SNP	T	T	A	rs369544339		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179594220T>A	ENST00000591111.1	-	62	17936	c.17712A>T	c.(17710-17712)gaA>gaT	p.E5904D	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4977D|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E6221D			Q8WZ42	TITIN_HUMAN	titin	12700	Ig-like 40.				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)			TTCCCGTAACTTCACACTCCA	0.443																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14929-14931)GAA>GAT		titin isoform N2-A							127.0	117.0	120.0					2																	179594220		1893	4119	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594220T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17712A>T	2.37:g.179594220T>A	ENSP00000465570:p.Glu5904Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1638D	p.E4977D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15155	-			5904					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.14931A>T		.	.	.	.	.	.	.	.	.	.	T	11.08	1.532651	0.27387	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.92	2.21	0.28008	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63022	0.2476	L	0.58428	1.81	0.80722	D	1	P	0.49185	0.92	B	0.44315	0.446	T	0.62191	-0.6906	9	0.87932	D	0	.	9.5248	0.39158	0.0:0.2873:0.0:0.7127	.	5904	Q8WZ42	TITIN_HUMAN	D	4977	ENSP00000343764:E4977D	ENSP00000343764:E4977D	E	-	3	2	TTN	179302465	0.999000	0.42202	0.993000	0.49108	0.717000	0.41224	0.586000	0.23894	0.136000	0.18733	0.533000	0.62120	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	86	0	0	0	0.005524	0	36	86				
TTN	7273	broad.mit.edu	37	2	179640809	179640809	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179640809C>G	ENST00000591111.1	-	28	6006	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1882Q|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1928Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1928Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1882Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1882Q|TTN_ENST00000589042.1_Missense_Mutation_p.E1928Q			Q8WZ42	TITIN_HUMAN	titin	12763	Ig-like 9.				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)			TGTTGAATCTCAAGCTTCACT	0.458																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5782-5784)GAG>CAG		titin isoform N2-A							193.0	199.0	197.0					2																	179640809		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640809C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5782G>C	2.37:g.179640809C>G	ENSP00000465570:p.Glu1928Gln					TTN_uc010zfh.1_Missense_Mutation_p.E1882Q|TTN_uc010zfi.1_Missense_Mutation_p.E1882Q|TTN_uc010zfj.1_Missense_Mutation_p.E1882Q|TTN_uc002unb.2_Missense_Mutation_p.E1928Q|uc002unc.1_5'Flank	p.E1928Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6006	-			1928					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.5782G>C		.	.	.	.	.	.	.	.	.	.	C	12.24	1.879280	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78972	0.4368	L	0.49350	1.555	0.39046	D	0.96022	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.82200	-0.0575	9	0.87932	D	0	.	18.5142	0.90930	0.0:1.0:0.0:0.0	.	1882;1882;1882;1928;1928	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1928;1882;1882;1882;1882;1928	ENSP00000343764:E1928Q;ENSP00000434586:E1882Q;ENSP00000340554:E1882Q;ENSP00000352154:E1882Q;ENSP00000354117:E1928Q	ENSP00000340554:E1882Q	E	-	1	0	TTN	179349054	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.779000	0.85648	2.385000	0.81259	0.609000	0.83330	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	229	0	0	0	0.000602	0	5	229				
TTN	7273	broad.mit.edu	37	2	179658174	179658174	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179658174A>T	ENST00000591111.1	-	9	1717	c.1493T>A	c.(1492-1494)gTa>gAa	p.V498E	TTN_ENST00000342175.6_Missense_Mutation_p.V498E|TTN_ENST00000342992.6_Missense_Mutation_p.V498E|TTN_ENST00000360870.5_Missense_Mutation_p.V498E|TTN_ENST00000460472.2_Missense_Mutation_p.V498E|TTN_ENST00000359218.5_Missense_Mutation_p.V498E|TTN_ENST00000589042.1_Missense_Mutation_p.V498E			Q8WZ42	TITIN_HUMAN	titin	0			V -> I. {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:7569978}.		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)			TGTGGTAATTACTTCTTTGGT	0.413																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1492-1494)GTA>GAA		titin isoform N2-A							404.0	398.0	400.0					2																	179658174		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179658174A>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.1493T>A	2.37:g.179658174A>T	ENSP00000465570:p.Val498Glu					TTN_uc010zfh.1_Missense_Mutation_p.V498E|TTN_uc010zfi.1_Missense_Mutation_p.V498E|TTN_uc010zfj.1_Missense_Mutation_p.V498E|TTN_uc002unb.2_Missense_Mutation_p.V498E|TTN_uc010frg.1_Missense_Mutation_p.V172E	p.V498E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		9	1717	-			498					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.1493T>A		.	.	.	.	.	.	.	.	.	.	A	12.32	1.902270	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.61	2.83	0.33086	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.12220	0.0297	N	0.02391	-0.57	0.24301	N	0.995122	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.0;0.001;0.001;0.003	T	0.15636	-1.0430	9	0.87932	D	0	.	5.1726	0.15118	0.4258:0.2452:0.0:0.329	.	498;498;498;498;498	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	498;498;498;498;498;498;94	ENSP00000343764:V498E;ENSP00000434586:V498E;ENSP00000340554:V498E;ENSP00000352154:V498E;ENSP00000354117:V498E;ENSP00000405517:V94E	ENSP00000340554:V498E	V	-	2	0	TTN	179366419	0.982000	0.34865	0.970000	0.41538	0.975000	0.68041	0.168000	0.16622	1.018000	0.39521	0.528000	0.53228	GTA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	99	0	0	0	0.000978	0	10	99				
SESTD1	91404	broad.mit.edu	37	2	179979965	179979965	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179979965T>A	ENST00000428443.3	-	16	1982	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	556							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCAACTGCCTGCCATAGTCA	0.418																																							uc002uni.3		NA																	0				ovary(1)	1						c.(1666-1668)AGG>TGG		SEC14 and spectrin domains 1							42.0	38.0	39.0					2																	179979965		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179979965T>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1666A>T	2.37:g.179979965T>A	ENSP00000415332:p.Arg556Trp					SESTD1_uc002unh.3_Missense_Mutation_p.R59W	p.R556W	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	1816	-			556			Spectrin 3.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.1666A>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031198	0.75504	.	.	ENSG00000187231	ENST00000428443	T	0.35789	1.29	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.981;0.998	T	0.26538	-1.0100	9	.	.	.	-18.7211	11.6285	0.51160	0.0:0.0:0.1485:0.8515	.	556;556	Q86VW0;B3KTX3	SESD1_HUMAN;.	W	556	ENSP00000415332:R556W	.	R	-	1	2	SESTD1	179688210	1.000000	0.71417	0.981000	0.43875	0.726000	0.41606	3.840000	0.55843	2.161000	0.67846	0.533000	0.62120	AGG		0.418	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		6	16	0	0	0	0.001168	0	6	16				
PDE1A	5136	broad.mit.edu	37	2	183053759	183053759	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:183053759G>T	ENST00000410103.1	-	12	1285	c.1202C>A	c.(1201-1203)cCa>cAa	p.P401Q	PDE1A_ENST00000536095.1_Missense_Mutation_p.P297Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.P385Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.P401Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.P401Q|PDE1A_ENST00000435564.1_Missense_Mutation_p.P401Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.P367Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.P385Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.P401Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	401	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGGGGAAAATGGAAGCCCTAA	0.408																																							uc002uos.2		NA																	0				skin(2)|ovary(1)	3						c.(1201-1203)CCA>CAA		phosphodiesterase 1A isoform 2							165.0	172.0	170.0					2																	183053759		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183053759G>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1202C>A	2.37:g.183053759G>T	ENSP00000387037:p.Pro401Gln					PDE1A_uc010zfp.1_Missense_Mutation_p.P297Q|PDE1A_uc002uoq.1_Missense_Mutation_p.P401Q|PDE1A_uc010zfq.1_Missense_Mutation_p.P401Q|PDE1A_uc002uor.2_Missense_Mutation_p.P385Q|PDE1A_uc002uou.2_Missense_Mutation_p.P367Q	p.P401Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		12	1286	-			401			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1202C>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053239	0.75960	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.6	5.6	0.85130	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052858	0.85682	D	0.000000	D	0.88610	0.6483	M	0.86573	2.825	0.58432	D	0.999999	P;P;P;P;P	0.45011	0.848;0.794;0.848;0.794;0.817	P;B;P;B;P	0.54238	0.746;0.444;0.678;0.426;0.7	D	0.89565	0.3809	10	0.62326	D	0.03	.	14.4617	0.67453	0.0:0.0:0.8439:0.1561	.	297;367;401;385;401	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Q	401;367;297;385;401;385;401;401;401	ENSP00000410309:P401Q;ENSP00000329112:P367Q;ENSP00000439938:P297Q;ENSP00000386767:P385Q;ENSP00000331574:P401Q;ENSP00000309269:P385Q;ENSP00000387037:P401Q;ENSP00000350858:P401Q;ENSP00000408874:P401Q	ENSP00000331574:P401Q	P	-	2	0	PDE1A	182762004	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.033000	0.76504	2.793000	0.96121	0.591000	0.81541	CCA		0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			43	117	1	0	5.20837e-25	0.00874	1.02413e-24	43	117				
ZNF804A	91752	broad.mit.edu	37	2	185731213	185731213	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:185731213A>G	ENST00000302277.6	+	2	823	c.229A>G	c.(229-231)Aat>Gat	p.N77D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	77							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						CAATCACATTAATTCATATGA	0.358																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(229-231)AAT>GAT		zinc finger protein 804A							73.0	72.0	73.0					2																	185731213		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185731213A>G	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.229A>G	2.37:g.185731213A>G	ENSP00000303252:p.Asn77Asp						p.N77D	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			2	823	+			77			C2H2-type.		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.229A>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	31	5.064042	0.93898	.	.	ENSG00000170396	ENST00000302277	T	0.11277	2.79	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000003	T	0.35098	0.0920	M	0.78049	2.395	0.49687	D	0.999814	D	0.89917	1.0	D	0.97110	1.0	T	0.10177	-1.0641	10	0.72032	D	0.01	-14.3265	15.1974	0.73104	1.0:0.0:0.0:0.0	.	77	Q7Z570	Z804A_HUMAN	D	77	ENSP00000303252:N77D	ENSP00000303252:N77D	N	+	1	0	ZNF804A	185439458	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.228000	0.95250	2.233000	0.73108	0.482000	0.46254	AAT		0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		8	48	0	0	0	0.004482	0	8	48				
FAM171B	165215	broad.mit.edu	37	2	187627079	187627079	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:187627079C>A	ENST00000304698.5	+	8	2213	c.2010C>A	c.(2008-2010)ccC>ccA	p.P670P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	670						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCCCGCATCCCAGAGCCTGGT	0.483																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2008-2010)CCC>CCA		KIAA1946							74.0	82.0	79.0					2																	187627079		2203	4300	6503	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187627079C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2010C>A	2.37:g.187627079C>A						FAM171B_uc002upr.1_Silent_p.P637P|FAM171B_uc002upt.2_Silent_p.P139P	p.P670P	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2122	+			670			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.2010C>A	CCDS33347.1																																																																																				0.483	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		25	95	1	0	7.87624e-14	0.00278	1.38634e-13	25	95				
COL5A2	1290	broad.mit.edu	37	2	189917697	189917697	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:189917697T>A	ENST00000374866.3	-	39	2875	c.2601A>T	c.(2599-2601)ggA>ggT	p.G867G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTCCCTTCTGTCCTGGCTCTC	0.433																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(2599-2601)GGA>GGT		alpha 2 type V collagen preproprotein							93.0	85.0	87.0					2																	189917697		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917697T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2601A>T	2.37:g.189917697T>A						COL5A2_uc010frx.2_Silent_p.G443G	p.G867G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2876	-			867					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.2601A>T	CCDS33350.1																																																																																				0.433	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		12	38	0	0	0	0.00245	0	12	38				
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.L718F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACATGGGAAGAAGGTCTGAT	0.403																																							uc002usm.1		NA																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(2152-2154)CTT>TTT		signal transducer and activator of transcription							209.0	204.0	206.0					2																	191895766		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191895766G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2152C>T	2.37:g.191895766G>A	ENSP00000376134:p.Leu718Phe					STAT4_uc002usn.1_Missense_Mutation_p.L718F	p.L718F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		23	2406	-			718					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2152C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048313	0.75846	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89050	-2.46;-2.46	5.28	4.41	0.53225	.	0.539313	0.17756	N	0.163050	D	0.89504	0.6734	L	0.42245	1.32	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.87795	0.2621	10	0.39692	T	0.17	-14.8365	12.0822	0.53677	0.079:0.0:0.921:0.0	.	718	Q14765	STAT4_HUMAN	F	718	ENSP00000351255:L718F;ENSP00000376134:L718F	ENSP00000351255:L718F	L	-	1	0	STAT4	191604011	1.000000	0.71417	0.928000	0.36995	0.966000	0.64601	4.387000	0.59626	1.461000	0.47929	0.655000	0.94253	CTT		0.403	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		7	212	0	0	0	0.004482	0	7	212				
SATB2	23314	broad.mit.edu	37	2	200136964	200136964	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:200136964C>T	ENST00000417098.1	-	11	2988	c.2172G>A	c.(2170-2172)aaG>aaA	p.K724K	SATB2_ENST00000428695.1_Silent_p.K606K|SATB2_ENST00000260926.5_Silent_p.K724K|SATB2_ENST00000443023.1_Silent_p.K665K|SATB2_ENST00000457245.1_Silent_p.K724K	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	724					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGGTGCTGCCTTGCTTTTGT	0.468																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(2170-2172)AAG>AAA		SATB homeobox 2							118.0	117.0	117.0					2																	200136964		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200136964C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2172G>A	2.37:g.200136964C>T						SATB2_uc010fsq.1_Silent_p.K606K|SATB2_uc002uuz.1_Silent_p.K724K|SATB2_uc002uva.1_Silent_p.K724K	p.K724K	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2989	-			724					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.2172G>A	CCDS2327.1																																																																																				0.468	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		19	94	0	0	0	0.007413	0	19	94				
NRP2	8828	broad.mit.edu	37	2	206659578	206659578	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:206659578C>A	ENST00000357785.5	+	17	2608	c.2577C>A	c.(2575-2577)ccC>ccA	p.P859P	NRP2_ENST00000540178.1_Silent_p.P859P|NRP2_ENST00000540841.1_Silent_p.P842P|NRP2_ENST00000360409.3_Silent_p.P864P|NRP2_ENST00000412873.2_Silent_p.P842P			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCTGGATCCCATCCTCATCA	0.587																																							uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2590-2592)CCC>CCA		neuropilin 2 isoform 1 precursor							105.0	92.0	96.0					2																	206659578		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659578C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2577C>A	2.37:g.206659578C>A						NRP2_uc002vax.2_Silent_p.P859P|NRP2_uc002vay.2_Silent_p.P842P	p.P864P	NM_201266	NP_957718	O60462	NRP2_HUMAN			17	3383	+			864			Extracellular (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2592C>A	CCDS46496.1																																																																																				0.587	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			13	72	1	0	1.5842e-08	0.001855	2.38251e-08	13	72				
CPS1	1373	broad.mit.edu	37	2	211525226	211525226	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:211525226G>T	ENST00000233072.5	+	32	3970	c.3774G>T	c.(3772-3774)ttG>ttT	p.L1258F	CPS1_ENST00000451903.2_Missense_Mutation_p.L807F|CPS1_ENST00000430249.2_Missense_Mutation_p.L1264F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1258	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGTGTAACTTGAGAGCTTCTC	0.403																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3772-3774)TTG>TTT		carbamoyl-phosphate synthetase 1 isoform b							261.0	241.0	248.0					2																	211525226		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211525226G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3774G>T	2.37:g.211525226G>T	ENSP00000233072:p.Leu1258Phe					CPS1_uc010fur.2_Missense_Mutation_p.L1264F|CPS1_uc010fus.2_Missense_Mutation_p.L807F	p.L1258F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	32	3906	+			1258			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3774G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912390	0.72983	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97303	-4.33;-4.33;-4.33	5.98	4.93	0.64822	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.93854	3.465	0.47547	D	0.999457	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.98619	1.0666	10	0.87932	D	0	-5.6959	11.5316	0.50614	0.075:0.1285:0.7965:0.0	.	1268;1258	Q59HF8;P31327	.;CPSM_HUMAN	F	1264;1266;1258;807	ENSP00000402608:L1264F;ENSP00000233072:L1258F;ENSP00000406136:L807F	ENSP00000233072:L1258F	L	+	3	2	CPS1	211233471	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.903000	0.48711	2.838000	0.97847	0.655000	0.94253	TTG		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	149	1	0	5.04308e-16	0.00623	9.18976e-16	37	149				
RUFY4	285180	broad.mit.edu	37	2	218947967	218947967	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:218947967T>C	ENST00000344321.7	+	11	2008	c.1490T>C	c.(1489-1491)tTg>tCg	p.L497S	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.L517S	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	497							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCGGGTGTTGGAACTGATC	0.582																																							uc002vgw.2		NA																	0				pancreas(1)	1						c.(970-972)TTG>TCG		RUN and FYVE domain containing 4							89.0	89.0	89.0					2																	218947967		2037	4180	6217	SO:0001583	missense	285180						metal ion binding	g.chr2:218947967T>C	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1490T>C	2.37:g.218947967T>C	ENSP00000345900:p.Leu497Ser					RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.L324S	p.L324S	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	12	2815	+		Renal(207;0.0915)	497			FYVE-type.		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.971T>C		.	.	.	.	.	.	.	.	.	.	T	12.77	2.038484	0.35989	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.60424	1.27;0.19	4.06	4.06	0.47325	Zinc finger, FYVE/PHD-type (1);	0.650239	0.12728	N	0.444111	T	0.65481	0.2695	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.59484	-0.7446	10	0.09590	T	0.72	-0.5967	9.316	0.37934	0.0:0.0:0.0:1.0	.	497	Q6ZNE9	RUFY4_HUMAN	S	497;517	ENSP00000345900:L497S;ENSP00000363270:L517S	ENSP00000345900:L497S	L	+	2	0	RUFY4	218656212	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.612000	0.54142	1.683000	0.51011	0.454000	0.30748	TTG		0.582	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		8	48	0	0	0	0.004482	0	8	48				
CNPPD1	27013	broad.mit.edu	37	2	220039790	220039790	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220039790C>A	ENST00000409789.1	-	5	728	c.301G>T	c.(301-303)Gtg>Ttg	p.V101L	CNPPD1_ENST00000360507.5_Missense_Mutation_p.V101L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	101					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TCAATGTACACCAGAGCCAGC	0.517																																							uc002vju.3		NA																	0					0						c.(301-303)GTG>TTG		hypothetical protein LOC27013							129.0	120.0	123.0					2																	220039790		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220039790C>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.301G>T	2.37:g.220039790C>A	ENSP00000386277:p.Val101Leu					C2orf24_uc002vjv.2_Missense_Mutation_p.V101L	p.V101L	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	453	-		Renal(207;0.0915)	101					B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.301G>T	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759042	0.31137	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.41400	1.0;1.0;1.0	4.43	4.43	0.53597	.	0.126307	0.53938	D	0.000049	T	0.25827	0.0629	L	0.31752	0.955	0.46823	D	0.999217	B	0.31519	0.327	B	0.26517	0.07	T	0.05419	-1.0886	10	0.11182	T	0.66	-9.5024	10.8337	0.46675	0.0:0.9139:0.0:0.0861	.	101	Q9BV87	CNPD1_HUMAN	L	101	ENSP00000353698:V101L;ENSP00000386277:V101L;ENSP00000410109:V101L	ENSP00000353698:V101L	V	-	1	0	CNPPD1	219748034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.816000	0.48026	2.313000	0.78055	0.561000	0.74099	GTG		0.517	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		20	40	1	0	1.56452e-12	0.007413	2.64963e-12	20	40				
DNAJB2	3300	broad.mit.edu	37	2	220149365	220149365	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220149365G>T	ENST00000336576.5	+	9	919	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	DNAJB2_ENST00000392086.4_Missense_Mutation_p.D211Y|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	211					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCAGATGACCTGGCACT	0.622																																							uc002vkx.1		NA																	0					0						c.(631-633)GAC>TAC		DnaJ (Hsp40) homolog, subfamily B, member 2							38.0	42.0	40.0					2																	220149365		2202	4300	6502	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220149365G>T		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.631G>T	2.37:g.220149365G>T	ENSP00000338019:p.Asp211Tyr					DNAJB2_uc002vkw.1_Missense_Mutation_p.D211Y|DNAJB2_uc002vky.2_Missense_Mutation_p.D27Y|DNAJB2_uc010zlb.1_Missense_Mutation_p.D27Y	p.D211Y	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	868	+		Renal(207;0.0474)	211			UIM 1.		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.631G>T	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563093	0.86335	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000392087	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.83	4.83	0.62350	Ubiquitin interacting motif (1);	0.412413	0.21493	N	0.073645	T	0.59676	0.2211	L	0.52573	1.65	0.48975	D	0.999736	D;D	0.71674	0.997;0.998	P;D	0.70935	0.862;0.971	T	0.61422	-0.7066	10	0.62326	D	0.03	.	17.72	0.88348	0.0:0.0:1.0:0.0	.	211;211	P25686;P25686-2	DNJB2_HUMAN;.	Y	211;211;211;180	ENSP00000338019:D211Y;ENSP00000414796:D211Y;ENSP00000375936:D211Y;ENSP00000375937:D180Y	ENSP00000338019:D211Y	D	+	1	0	DNAJB2	219857609	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.422000	0.73357	2.512000	0.84698	0.462000	0.41574	GAC		0.622	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			11	32	1	0	0.00829132	0.008291	0.00946874	11	32				
ASIC4	55515	broad.mit.edu	37	2	220401832	220401832	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220401832C>G	ENST00000347842.3	+	6	1612	c.1598C>G	c.(1597-1599)tCt>tGt	p.S533C	ASIC4_ENST00000358078.4_Missense_Mutation_p.S552C	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	533					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GCCCTGACCTCTGAAGCCATG	0.627																																							uc002vma.2		NA																	0				ovary(2)	2						c.(1597-1599)TCT>TGT		amiloride-sensitive cation channel 4 isoform 2							80.0	75.0	77.0					2																	220401832		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220401832C>G	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1598C>G	2.37:g.220401832C>G	ENSP00000326627:p.Ser533Cys					ACCN4_uc002vlz.2_Missense_Mutation_p.S552C|ACCN4_uc002vmb.2_Missense_Mutation_p.S206C	p.S533C	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	6	1612	+		Renal(207;0.0183)	533			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1598C>G	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655330	0.67586	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.63417	-0.04;-0.04	4.81	4.81	0.61882	.	0.116163	0.64402	D	0.000012	T	0.62392	0.2424	N	0.20986	0.625	0.40513	D	0.980753	D;D	0.76494	0.999;0.988	D;D	0.65684	0.937;0.916	T	0.65496	-0.6154	10	0.72032	D	0.01	-13.4894	8.3636	0.32374	0.3249:0.5438:0.1312:0.0	.	533;552	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	C	533;552	ENSP00000326627:S533C;ENSP00000350786:S552C	ENSP00000326627:S533C	S	+	2	0	ACCN4	220110076	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	6.540000	0.73861	2.666000	0.90696	0.561000	0.74099	TCT		0.627	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		4	51	0	0	0	0.000602	0	4	51				
SCG2	7857	broad.mit.edu	37	2	224463909	224463909	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:224463909T>G	ENST00000305409.2	-	2	324	c.92A>C	c.(91-93)cAg>cCg	p.Q31P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGGTTTCTCTGAAATGAAGC	0.458																																							uc002vnm.2		NA																	0				ovary(1)	1						c.(91-93)CAG>CCG		secretogranin II precursor							73.0	78.0	76.0					2																	224463909		2201	4300	6501	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463909T>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.92A>C	2.37:g.224463909T>G	ENSP00000304133:p.Gln31Pro						p.Q31P	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	225	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	31					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.92A>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024724	0.54683	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01981	4.52;4.52;4.52	5.59	5.59	0.84812	.	0.056529	0.64402	D	0.000002	T	0.04497	0.0123	M	0.62723	1.935	0.44330	D	0.997214	B	0.24186	0.099	B	0.21546	0.035	T	0.36915	-0.9728	10	0.41790	T	0.15	.	16.0456	0.80720	0.0:0.0:0.0:1.0	.	31	P13521	SCG2_HUMAN	P	31	ENSP00000304133:Q31P;ENSP00000394702:Q31P;ENSP00000415468:Q31P	ENSP00000304133:Q31P	Q	-	2	0	SCG2	224172153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.667000	0.61561	2.248000	0.74166	0.528000	0.53228	CAG		0.458	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		4	103	0	0	0	0.000248	0	4	103				
SLC19A3	80704	broad.mit.edu	37	2	228560738	228560738	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:228560738G>C	ENST00000258403.3	-	4	1110	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.L343V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	347					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACCAGAGCCAGCTCTCCCAGA	0.448																																							uc002vpi.2		NA																	0				ovary(2)	2						c.(1039-1041)CTG>GTG		solute carrier family 19, member 3	L-Cysteine(DB00151)						69.0	81.0	77.0					2																	228560738		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560738G>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1039C>G	2.37:g.228560738G>C	ENSP00000258403:p.Leu347Val					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.L343V	p.L347V	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1128	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	347			Helical; (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.1039C>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776881	0.49786	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.88975	-2.45;-2.45	5.23	-3.34	0.04943	Major facilitator superfamily domain, general substrate transporter (1);	0.068543	0.64402	D	0.000010	D	0.91219	0.7233	M	0.78637	2.42	0.46279	D	0.998965	D;D	0.69078	0.997;0.972	D;P	0.69142	0.962;0.836	D	0.87601	0.2497	10	0.41790	T	0.15	-13.6934	8.2733	0.31857	0.2638:0.0:0.638:0.0983	.	343;347	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	347;343	ENSP00000258403:L347V;ENSP00000445519:L343V	ENSP00000258403:L347V	L	-	1	2	SLC19A3	228268982	0.917000	0.31117	0.968000	0.41197	0.792000	0.44763	0.018000	0.13422	-0.554000	0.06150	-0.140000	0.14226	CTG		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			23	45	0	0	0	0.002299	0	23	45				
GPR55	9290	broad.mit.edu	37	2	231775329	231775329	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:231775329T>G	ENST00000392040.1	-	2	541	c.349A>C	c.(349-351)Atg>Ctg	p.M117L	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.M117L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	117					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACCGGTCCATGCTGATGAAG	0.592																																							uc002vrg.2		NA																	0				ovary(1)	1						c.(349-351)ATG>CTG		G protein-coupled receptor 55							63.0	44.0	51.0					2																	231775329		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775329T>G	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.349A>C	2.37:g.231775329T>G	ENSP00000375894:p.Met117Leu					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.M117L	p.M117L	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	542	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	117			Cytoplasmic (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.349A>C	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	T	3.200	-0.163994	0.06502	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.32272	1.46;1.46;1.46	5.65	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.398807	0.25019	N	0.033761	T	0.07143	0.0181	N	0.00408	-1.53	0.23747	N	0.996956	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.17832	T	0.49	-14.5228	6.0702	0.19885	0.1641:0.0:0.6752:0.1606	.	117	Q9Y2T6	GPR55_HUMAN	L	117	ENSP00000375894:M117L;ENSP00000375893:M117L;ENSP00000412768:M117L	ENSP00000375893:M117L	M	-	1	0	GPR55	231483573	0.035000	0.19736	1.000000	0.80357	0.880000	0.50808	-0.073000	0.11468	0.730000	0.32425	-0.213000	0.12676	ATG		0.592	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		11	28	0	0	0	0.001368	0	11	28				
UGT1A6	54578	broad.mit.edu	37	2	234677057	234677057	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:234677057G>T	ENST00000305139.6	+	4	1412	c.1273G>T	c.(1273-1275)Gct>Tct	p.A425S	UGT1A4_ENST00000373409.3_Missense_Mutation_p.A427S|UGT1A10_ENST00000344644.5_Missense_Mutation_p.A423S|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A423S|UGT1A1_ENST00000373450.4_Missense_Mutation_p.A423S|UGT1A6_ENST00000406651.1_Missense_Mutation_p.A158S|UGT1A3_ENST00000482026.1_Missense_Mutation_p.A427S|UGT1A9_ENST00000354728.4_Missense_Mutation_p.A423S|UGT1A1_ENST00000608381.1_Missense_Mutation_p.A427S|UGT1A7_ENST00000373426.3_Missense_Mutation_p.A423S|UGT1A1_ENST00000609637.1_Missense_Mutation_p.A423S|UGT1A6_ENST00000373424.1_Missense_Mutation_p.A158S|UGT1A1_ENST00000360418.3_Missense_Mutation_p.A426S|UGT1A1_ENST00000608383.1_Missense_Mutation_p.A426S|UGT1A8_ENST00000305208.5_Missense_Mutation_p.A426S|UGT1A5_ENST00000373414.3_Missense_Mutation_p.A427S|UGT1A1_ENST00000609767.1_Missense_Mutation_p.A427S	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	425					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTAGAAAATGCTCTAAAAGC	0.368																																							uc002vuw.2		NA																	0				skin(1)	1						c.(1279-1281)GCT>TCT		UDP glycosyltransferase 1 family, polypeptide A5							80.0	71.0	74.0					2																	234677057		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234677057G>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1273G>T	2.37:g.234677057G>T	ENSP00000303174:p.Ala425Ser					UGT1A8_uc010zmv.1_Missense_Mutation_p.A423S|UGT1A8_uc002vup.2_Missense_Mutation_p.A423S|UGT1A10_uc002vuq.3_Missense_Mutation_p.A423S|UGT1A10_uc002vur.2_Missense_Mutation_p.A423S|UGT1A9_uc010zmw.1_Missense_Mutation_p.A423S|UGT1A9_uc002vus.2_Missense_Mutation_p.A423S|UGT1A7_uc010zmx.1_Missense_Mutation_p.A423S|UGT1A7_uc002vut.2_Missense_Mutation_p.A423S|UGT1A6_uc002vuu.2_Missense_Mutation_p.A158S|UGT1A6_uc010zmy.1_Missense_Mutation_p.A425S|UGT1A6_uc002vuv.3_Missense_Mutation_p.A425S|UGT1A5_uc010zmz.1_Missense_Mutation_p.A427S|UGT1A4_uc010zna.1_Missense_Mutation_p.A427S|UGT1A4_uc002vux.2_Missense_Mutation_p.A427S|UGT1A3_uc010znb.1_Missense_Mutation_p.A427S|UGT1A3_uc002vuy.2_Missense_Mutation_p.A427S|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.A426S|UGT1A1_uc002vvb.2_Missense_Mutation_p.A426S	p.A427S	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	4	1279	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	427					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.1279G>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452044	0.96223	.	.	ENSG00000242366;ENSG00000242515;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000373445;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000406651;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208;ENST00000360418	T;T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.88	5.88	0.94601	.	0.056353	0.64402	D	0.000001	D	0.88566	0.6471	M	0.84846	2.72	0.51482	D	0.999928	D;P;D;D;D;D;D;D;D;P;P;D;D;D;D;D;D;D	0.89917	0.969;0.956;1.0;0.964;0.999;0.999;1.0;0.999;0.996;0.956;0.956;0.964;0.998;0.999;1.0;0.999;1.0;0.999	P;P;D;D;D;D;D;D;D;P;P;D;D;D;D;D;D;D	0.97110	0.838;0.815;0.998;0.951;0.995;1.0;0.999;0.999;0.986;0.815;0.867;0.951;0.998;1.0;0.999;0.999;0.999;0.999	D	0.89108	0.3494	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:0.0:1.0:0.0	.	426;427;427;427;425;423;423;423;426;427;427;427;425;423;423;423;423;423	A6NJC3;Q5DT01;B8K288;Q5DSZ9;B8K289;Q5DSZ7;Q5DSZ5;Q5DSZ6;P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q7Z6H8;Q9HAW9	.;.;.;.;.;.;.;.;UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;.;UD18_HUMAN	S	423;423;423;423;423;158;425;158;427;427;427;426;426	ENSP00000362549:A423S;ENSP00000343838:A423S;ENSP00000362544:A423S;ENSP00000346768:A423S;ENSP00000362525:A423S;ENSP00000362523:A158S;ENSP00000303174:A425S;ENSP00000386107:A158S;ENSP00000362513:A427S;ENSP00000362508:A427S;ENSP00000418532:A427S;ENSP00000304845:A426S;ENSP00000353593:A426S	ENSP00000343838:A423S	A	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234341796	1.000000	0.71417	0.775000	0.31657	0.968000	0.65278	9.490000	0.97952	2.774000	0.95407	0.655000	0.94253	GCT		0.368	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		5	19	1	0	1.024e-07	0.000602	1.49157e-07	5	19				
GBX2	2637	broad.mit.edu	37	2	237076108	237076108	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:237076108C>T	ENST00000306318.4	-	1	904	c.507G>A	c.(505-507)acG>acA	p.T169T	GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Silent_p.T169T|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	169				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AAGCCTGCACCGTCTCGGCCG	0.736																																							uc002vvw.1		NA																	0					0						c.(505-507)ACG>ACA		gastrulation brain homeo box 2							11.0	11.0	11.0					2																	237076108		2091	4115	6206	SO:0001819	synonymous_variant	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076108C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.507G>A	2.37:g.237076108C>T						GBX2_uc010zng.1_Silent_p.T159T	p.T169T	NM_001485	NP_001476	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	545	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	169	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	ENST00000306318.4	37	c.507G>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100112	0.20552	.	.	ENSG00000233611	ENST00000415226	.	.	.	4.15	1.24	0.21308	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33214	-0.9877	4	.	.	.	-4.8102	4.6253	0.12476	0.1812:0.6289:0.0:0.1899	.	.	.	.	C	7	.	.	R	+	1	0	AC079135.1	236740847	0.009000	0.17119	0.998000	0.56505	0.824000	0.46624	-1.118000	0.03280	-0.057000	0.13199	0.313000	0.20887	CGT		0.736	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		6	9	0	0	0	0.00308	0	6	9				
COL6A3	1293	broad.mit.edu	37	2	238305434	238305434	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:238305434T>A	ENST00000295550.4	-	2	479	c.27A>T	c.(25-27)ttA>ttT	p.L9F	COL6A3_ENST00000392004.3_Missense_Mutation_p.L9F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L9F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L9F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L9F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L9F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L9F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L9F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	9					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACGGCCACTAAGGGCAAGT	0.438																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(25-27)TTA>TTT		alpha 3 type VI collagen isoform 1 precursor							111.0	113.0	112.0					2																	238305434		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305434T>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.27A>T	2.37:g.238305434T>A	ENSP00000295550:p.Leu9Phe					COL6A3_uc002vwo.2_Missense_Mutation_p.L9F|COL6A3_uc010znj.1_Missense_Mutation_p.L9F|COL6A3_uc002vwq.2_Missense_Mutation_p.L9F|COL6A3_uc002vwr.2_Missense_Mutation_p.L9F|COL6A3_uc010znk.1_Missense_Mutation_p.L9F	p.L9F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	312	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	9					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.27A>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253741	0.39797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;D;D;D;T;T;T;T	0.93076	-1.22;-1.22;-3.16;-2.74;-3.16;-1.22;-0.75;-0.44;-1.22	5.46	-10.9	0.00192	.	0.182778	0.21495	N	0.073618	D	0.91209	0.7230	L	0.52364	1.645	0.09310	N	1	B;B;P;D;D;B	0.89917	0.034;0.06;0.904;1.0;1.0;0.006	B;B;P;D;D;B	0.91635	0.029;0.029;0.514;0.999;0.999;0.008	T	0.82384	-0.0484	10	0.72032	D	0.01	.	2.4426	0.04498	0.2425:0.3555:0.2466:0.1553	.	9;9;9;9;9;9	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	F	9	ENSP00000295550:L9F;ENSP00000315609:L9F;ENSP00000315873:L9F;ENSP00000418285:L9F;ENSP00000386844:L9F;ENSP00000295546:L9F;ENSP00000375861:L9F;ENSP00000375860:L9F;ENSP00000389539:L9F	ENSP00000295550:L9F	L	-	3	2	COL6A3	237970173	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	-3.709000	0.00387	-2.556000	0.00476	-0.263000	0.10527	TTA		0.438	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		19	46	0	0	0	0.007413	0	19	46				
RAMP1	10267	broad.mit.edu	37	2	238785925	238785925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:238785925G>T	ENST00000254661.4	+	2	244	c.112G>T	c.(112-114)Gag>Tag	p.E38*	RAMP1_ENST00000404910.2_Nonsense_Mutation_p.E16*|RAMP1_ENST00000409726.1_Nonsense_Mutation_p.E16*|RAMP1_ENST00000403885.1_Nonsense_Mutation_p.E16*	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	38					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CCTCCTCCGGGAGCTCTGCCT	0.627																																					NSCLC(177;211 2889 43936 50767)	NSCLC(177;211 2889 43936 50767)	uc002vxj.2		NA																	0					0						c.(112-114)GAG>TAG		receptor activity-modifying protein 1 precursor	Pramlintide(DB01278)						96.0	89.0	91.0					2																	238785925		2203	4300	6503	SO:0001587	stop_gained	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238785925G>T	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.112G>T	2.37:g.238785925G>T	ENSP00000254661:p.Glu38*						p.E38*	NM_005855	NP_005846	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	2	244	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	38			Extracellular (Potential).		Q6FGS5	Nonsense_Mutation	SNP	ENST00000254661.4	37	c.112G>T	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591015	0.66219	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	.	.	.	4.84	3.06	0.35304	.	0.229422	0.43110	D	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-30.0564	7.4644	0.27314	0.1965:0.0:0.8035:0.0	.	.	.	.	X	16;38;16;16	.	ENSP00000254661:E38X	E	+	1	0	RAMP1	238450664	0.016000	0.18221	0.037000	0.18230	0.004000	0.04260	0.503000	0.22610	0.652000	0.30806	-0.254000	0.11334	GAG		0.627	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855		9	61	1	0	3.86212e-05	0.008291	4.87942e-05	9	61				
TRAF3IP1	26146	broad.mit.edu	37	2	239237914	239237914	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:239237914G>C	ENST00000373327.4	+	5	1068	c.846G>C	c.(844-846)gtG>gtC	p.V282V	TRAF3IP1_ENST00000391994.2_Silent_p.V282V|TRAF3IP1_ENST00000391993.3_Silent_p.V282V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	282	Abolishes microtubules-binding when missing.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gacggagagtgaaaaacgggg	0.547																																							uc002vye.2		NA																	0				ovary(1)	1						c.(844-846)GTG>GTC		TNF receptor-associated factor 3 interacting							77.0	89.0	85.0					2																	239237914		2200	4298	6498	SO:0001819	synonymous_variant	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237914G>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.846G>C	2.37:g.239237914G>C						TRAF3IP1_uc002vyf.2_Silent_p.V282V	p.V282V	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	5	965	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	282			Abolishes microtubules-binding when missing.|DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	37	c.846G>C	CCDS33415.1																																																																																				0.547	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		4	49	0	0	0	0.000602	0	4	49				
OR6B2	389090	broad.mit.edu	37	2	240969652	240969653	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:240969652_240969653GG>TT	ENST00000402971.2	-	1	253_254	c.194_195CC>AA	c.(193-195)tCC>tAA	p.S65*		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGAAAGACATGGAGCTCAGAAA	0.554																																							uc002vyr.2		NA																	0					0						c.(193-195)TCC>TAA		olfactory receptor, family 6, subfamily B,																																				SO:0001587	stop_gained	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969652_240969653GG>TT		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.194_195delinsTT	2.37:g.240969652_240969653delinsTT	ENSP00000384563:p.Ser65*					OR6B2_uc010zoc.1_Nonsense_Mutation_p.S65*	p.S65*	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	240_241	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	65			Helical; Name=2; (Potential).		B2RPR3|Q8NGW0	Nonsense_Mutation	DNP	ENST00000402971.2	37	c.194_195CC>AA	CCDS46559.1																																																																																				0.554	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		13	84	0	0	0	0.004672	0	13	84				
HDLBP	3069	broad.mit.edu	37	2	242195624	242195624	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242195624C>T	ENST00000391975.1	-	7	1075	c.848G>A	c.(847-849)cGc>cAc	p.R283H	HDLBP_ENST00000310931.4_Missense_Mutation_p.R283H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R319H|HDLBP_ENST00000391976.2_Missense_Mutation_p.R283H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	283	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R283L(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTTCTTGATGCGAGCCACAGC	0.512																																							uc002waz.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(847-849)CGC>CAC		high density lipoprotein binding protein							84.0	74.0	78.0					2																	242195624		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242195624C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.848G>A	2.37:g.242195624C>T	ENSP00000375836:p.Arg283His					HDLBP_uc002wba.2_Missense_Mutation_p.R283H|HDLBP_uc002wbb.2_Missense_Mutation_p.R304H|HDLBP_uc010fzn.1_Missense_Mutation_p.R35H	p.R283H	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	7	1076	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	283			KH 2.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.848G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.24|18.24	3.581207|3.581207	0.65992|0.65992	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	6.13|6.13	6.13|6.13	0.99165|0.99165	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.091941	.|0.64402	.|D	.|0.000001	T|T	0.50292|0.50292	0.1607|0.1607	L|L	0.60845|0.60845	1.875|1.875	0.28066|0.28066	N|N	0.932765|0.932765	.|D;D;D	.|0.59357	.|0.967;0.985;0.967	.|P;P;P	.|0.56788	.|0.671;0.806;0.767	T|T	0.39583|0.39583	-0.9607|-0.9607	5|10	.|0.54805	.|T	.|0.06	-14.0824|-14.0824	20.8599|20.8599	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|283;319;283	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	T|H	184|283;283;283;319	.|ENSP00000375836:R283H;ENSP00000375837:R283H;ENSP00000312042:R283H;ENSP00000399139:R319H	.|ENSP00000312042:R283H	A|R	-|-	1|2	0|0	HDLBP|HDLBP	241844297|241844297	0.960000|0.960000	0.32886|0.32886	0.880000|0.880000	0.34516|0.34516	0.912000|0.912000	0.54170|0.54170	2.732000|2.732000	0.47352|0.47352	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.512	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		7	54	0	0	0	0.001984	0	7	54				
ING5	84289	broad.mit.edu	37	2	242650848	242650848	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242650848G>A	ENST00000313552.6	+	4	359	c.333G>A	c.(331-333)ctG>ctA	p.L111L	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.L111L	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	111					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AAGCAGATCTGAAGGACAAGA	0.383																																							uc002wcd.2		NA																	0					0						c.(331-333)CTG>CTA		inhibitor of growth family, member 5							146.0	162.0	156.0					2																	242650848		2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650848G>A	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.333G>A	2.37:g.242650848G>A						ING5_uc002wcc.1_Silent_p.L111L	p.L111L	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	358	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	111					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.333G>A	CCDS33425.1																																																																																				0.383	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		6	188	0	0	0	0.004482	0	6	188				
D2HGDH	728294	broad.mit.edu	37	2	242690681	242690681	+	Missense_Mutation	SNP	A	A	G	rs149383887	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242690681A>G	ENST00000321264.4	+	8	1227	c.1018A>G	c.(1018-1020)Atc>Gtc	p.I340V	D2HGDH_ENST00000486953.1_Intron|D2HGDH_ENST00000403782.1_Missense_Mutation_p.I206V	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	340					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTACGTCCTCATCGAGACTTC	0.622													A|||	2	0.000399361	0.0015	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.0						uc002wce.1		NA																	0					0						c.(1018-1020)ATC>GTC		D-2-hydroxyglutarate dehydrogenase precursor							72.0	69.0	70.0					2																	242690681		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242690681A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1018A>G	2.37:g.242690681A>G	ENSP00000315351:p.Ile340Val					D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.I206V|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.I39V	p.I340V	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	8	1191	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	340					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1018A>G	CCDS33426.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	9.488|9.488	1.099925|1.099925	0.20552|0.20552	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000454048	.|T;T;T	.|0.81415	.|-1.49;-1.49;-1.18	5.06|5.06	0.174|0.174	0.15040|0.15040	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.224668	.|0.39475	.|N	.|0.001341	T|T	0.55386|0.55386	0.1917|0.1917	N|N	0.17564|0.17564	0.495|0.495	0.80722|0.80722	D|D	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.26969	.|0.075	T|T	0.40553|0.40553	-0.9557|-0.9557	5|10	.|0.28530	.|T	.|0.3	.|.	8.3497|8.3497	0.32295|0.32295	0.7622:0.0:0.2378:0.0|0.7622:0.0:0.2378:0.0	.|.	.|340	.|Q8N465	.|D2HDH_HUMAN	R|V	93|340;206;41	.|ENSP00000315351:I340V;ENSP00000384723:I206V;ENSP00000404596:I41V	.|ENSP00000315351:I340V	H|I	+|+	2|1	0|0	D2HGDH|D2HGDH	242339354|242339354	0.961000|0.961000	0.32948|0.32948	0.040000|0.040000	0.18447|0.18447	0.503000|0.503000	0.33858|0.33858	2.077000|2.077000	0.41557|0.41557	0.024000|0.024000	0.15214|0.15214	0.459000|0.459000	0.35465|0.35465	CAT|ATC		0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		15	30	0	0	0	0.00499	0	15	30				
PRND	23627	broad.mit.edu	37	20	4705237	4705237	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:4705237T>A	ENST00000305817.2	+	2	111	c.40T>A	c.(40-42)Tgc>Agc	p.C14S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	14					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGCCACTGTCTGCATGCTGCT	0.632																																							uc002wkz.2		NA																	0					0						c.(40-42)TGC>AGC		prion-like protein doppel preproprotein							62.0	57.0	59.0					20																	4705237		2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705237T>A	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.40T>A	20.37:g.4705237T>A	ENSP00000306900:p.Cys14Ser						p.C14S	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	111	+			14					A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.40T>A	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824338	0.32237	.	.	ENSG00000171864	ENST00000305817	T	0.38560	1.13	5.47	4.38	0.52667	.	0.461484	0.18496	N	0.139495	T	0.54727	0.1876	M	0.69823	2.125	0.09310	N	1	D	0.52996	0.957	P	0.58780	0.845	T	0.50021	-0.8876	10	0.72032	D	0.01	-20.4592	7.2969	0.26397	0.0:0.0967:0.0:0.9033	.	14	Q9UKY0	PRND_HUMAN	S	14	ENSP00000306900:C14S	ENSP00000306900:C14S	C	+	1	0	PRND	4653237	0.250000	0.23951	0.009000	0.14445	0.003000	0.03518	2.170000	0.42443	2.069000	0.61940	0.455000	0.32223	TGC		0.632	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		18	39	0	0	0	0.007413	0	18	39				
NINL	22981	broad.mit.edu	37	20	25472120	25472120	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:25472120C>A	ENST00000278886.6	-	11	1425	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	NINL_ENST00000422516.1_Missense_Mutation_p.R451L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	451					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CACCTCAGACCGCAGGAGGCT	0.657																																							uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1351-1353)CGG>CTG		ninein-like							82.0	78.0	80.0					20																	25472120		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472120C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1352G>T	20.37:g.25472120C>A	ENSP00000278886:p.Arg451Leu					NINL_uc010gdn.1_Missense_Mutation_p.R451L|NINL_uc010gdo.1_Missense_Mutation_p.R234L|NINL_uc010ztf.1_Missense_Mutation_p.R467L	p.R451L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			11	1426	-			451					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1352G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077500	0.76528	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.33654	1.62;1.4	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000003	T	0.57504	0.2058	M	0.69823	2.125	0.45330	D	0.998322	D;D	0.89917	0.997;1.0	D;D	0.85130	0.95;0.997	T	0.59752	-0.7395	10	0.56958	D	0.05	-32.5617	12.8533	0.57871	0.0:1.0:0.0:0.0	.	451;451	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	L	451	ENSP00000278886:R451L;ENSP00000410431:R451L	ENSP00000278886:R451L	R	-	2	0	NINL	25420120	0.101000	0.21875	0.992000	0.48379	0.734000	0.41952	1.349000	0.33998	2.401000	0.81631	0.306000	0.20318	CGG		0.657	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		18	79	1	0	1.33834e-09	0.007413	2.09242e-09	18	79				
NINL	22981	broad.mit.edu	37	20	25491358	25491358	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:25491358C>G	ENST00000278886.6	-	5	542	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	NINL_ENST00000422516.1_Missense_Mutation_p.E157Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	157					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCTCGGCCTCTTCATCTGAC	0.512																																							uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(469-471)GAG>CAG		ninein-like							139.0	122.0	128.0					20																	25491358		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25491358C>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.469G>C	20.37:g.25491358C>G	ENSP00000278886:p.Glu157Gln					NINL_uc010gdn.1_Missense_Mutation_p.E157Q|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.E173Q	p.E157Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			5	543	-			157					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.469G>C	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949627	0.53186	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.21932	1.98;1.98	5.25	5.25	0.73442	.	0.490097	0.21587	N	0.072145	T	0.46132	0.1377	M	0.69823	2.125	0.34595	D	0.715907	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.896	T	0.56456	-0.7976	10	0.56958	D	0.05	-14.7476	17.7625	0.88468	0.0:1.0:0.0:0.0	.	157;157	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	157	ENSP00000278886:E157Q;ENSP00000410431:E157Q	ENSP00000278886:E157Q	E	-	1	0	NINL	25439358	1.000000	0.71417	0.996000	0.52242	0.463000	0.32649	4.724000	0.61972	2.732000	0.93576	0.655000	0.94253	GAG		0.512	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		3	109	0	0	0	0.004672	0	3	109				
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:29992817A>G	ENST00000376314.2	-	2	243	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.C44R(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388																																							uc002wvv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)TGC>CGC		defensin, beta 121 precursor							222.0	205.0	211.0					20																	29992817		2203	4300	6503	SO:0001583	missense	245934				defense response to bacterium	extracellular region		g.chr20:29992817A>G	AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376314.2:c.130T>C	20.37:g.29992817A>G	ENSP00000417128:p.Cys44Arg						p.C44R	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	166	-	all_hematologic(12;0.158)		44					A1L4N1	Missense_Mutation	SNP	ENST00000376314.2	37	c.130T>C	CCDS33456.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474319	0.43942	.	.	ENSG00000204548	ENST00000376314	T	0.76316	-1.01	3.51	3.51	0.40186	.	0.000000	0.42420	D	0.000708	D	0.85673	0.5751	.	.	.	0.35826	D	0.824953	D	0.89917	1.0	D	0.91635	0.999	D	0.88865	0.3329	9	0.72032	D	0.01	.	8.7062	0.34356	1.0:0.0:0.0:0.0	.	44	Q5J5C9	DB121_HUMAN	R	44	ENSP00000417128:C44R	ENSP00000417128:C44R	C	-	1	0	DEFB121	29456478	0.855000	0.29742	0.293000	0.24932	0.024000	0.10985	2.997000	0.49457	1.822000	0.53115	0.460000	0.39030	TGC		0.388	DEFB121-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354404.1	NM_001011878		10	46	0	0	0	0.008291	0	10	46				
MYLK2	85366	broad.mit.edu	37	20	30411373	30411373	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30411373A>T	ENST00000375994.2	+	4	1139	c.866A>T	c.(865-867)gAg>gTg	p.E289V	MYLK2_ENST00000375985.4_Missense_Mutation_p.E289V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACTCCAAGGAGGCGCTCGGA	0.617											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002wwq.2		NA																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(865-867)GAG>GTG		skeletal myosin light chain kinase							72.0	75.0	74.0					20																	30411373		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30411373A>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.866A>T	20.37:g.30411373A>T	ENSP00000365162:p.Glu289Val		OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	817		p.E289V	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		5	968	+			289			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.866A>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159614	0.57368	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.45276	0.9;0.9	3.77	3.77	0.43336	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.53932	0.1827	M	0.92555	3.32	0.54753	D	0.999988	B	0.18013	0.025	B	0.25506	0.061	T	0.62334	-0.6876	9	0.87932	D	0	.	11.4753	0.50295	1.0:0.0:0.0:0.0	.	289	Q9H1R3	MYLK2_HUMAN	V	289	ENSP00000365162:E289V;ENSP00000365152:E289V	ENSP00000365152:E289V	E	+	2	0	MYLK2	29875034	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.995000	0.93534	1.581000	0.49865	0.418000	0.28097	GAG		0.617	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		16	55	0	0	0	0.003163	0	16	55				
HCK	3055	broad.mit.edu	37	20	30659562	30659562	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30659562G>T	ENST00000520553.1	+	2	343	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	HCK_ENST00000518730.1_Missense_Mutation_p.D33Y|HCK_ENST00000375852.2_Missense_Mutation_p.D54Y|HCK_ENST00000538448.1_Missense_Mutation_p.D33Y|HCK_ENST00000375862.2_Missense_Mutation_p.D54Y|HCK_ENST00000534862.1_Missense_Mutation_p.D34Y	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	54					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTACGTGCCGGATCCCACATC	0.577																																							uc002wxh.2		NA																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(160-162)GAT>TAT		hemopoietic cell kinase isoform p61HCK							82.0	65.0	71.0					20																	30659562		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659562G>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.97G>T	20.37:g.30659562G>T	ENSP00000429848:p.Asp33Tyr					HCK_uc010gdy.2_Missense_Mutation_p.D33Y|HCK_uc002wxi.2_Missense_Mutation_p.D33Y	p.D54Y	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	331	+			54					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.160G>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443578	0.43429	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.74737	-0.85;-0.85;-0.87;-0.85;-0.85;-0.87	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000007	T	0.77046	0.4073	L	0.27053	0.805	0.47994	D	0.99956	D;D	0.89917	0.981;1.0	D;D	0.76071	0.917;0.987	T	0.79310	-0.1856	10	0.72032	D	0.01	.	12.4001	0.55407	0.0:0.0:1.0:0.0	.	33;54	P08631-3;P08631	.;HCK_HUMAN	Y	34;33;54;33;33;54	ENSP00000444986:D34Y;ENSP00000441169:D33Y;ENSP00000365022:D54Y;ENSP00000429848:D33Y;ENSP00000427757:D33Y;ENSP00000365012:D54Y	ENSP00000365012:D54Y	D	+	1	0	HCK	30123223	1.000000	0.71417	0.973000	0.42090	0.137000	0.21094	5.027000	0.64109	2.390000	0.81377	0.305000	0.20034	GAT		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			5	19	1	0	1.23904e-05	0.000602	1.62503e-05	5	19				
KIF3B	9371	broad.mit.edu	37	20	30898583	30898583	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30898583A>T	ENST00000375712.3	+	2	1170	c.1003A>T	c.(1003-1005)Aac>Tac	p.N335Y	KIF3B_ENST00000418717.2_Missense_Mutation_p.N23Y	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	335	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCGATATGCCAACCGTGCCAA	0.527																																							uc002wxq.2		NA																	0				central_nervous_system(3)|ovary(2)	5						c.(1003-1005)AAC>TAC		kinesin family member 3B							78.0	64.0	69.0					20																	30898583		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898583A>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1003A>T	20.37:g.30898583A>T	ENSP00000364864:p.Asn335Tyr					KIF3B_uc010ztv.1_Missense_Mutation_p.N335Y|KIF3B_uc010ztw.1_Missense_Mutation_p.N335Y	p.N335Y	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1170	+			335			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1003A>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606881	0.66558	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75589	-0.95;-0.73	4.47	4.47	0.54385	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	M	0.78801	2.425	0.80722	D	1	D;B;D	0.57257	0.979;0.087;0.971	P;B;D	0.66716	0.896;0.159;0.946	D	0.87229	0.2259	10	0.87932	D	0	.	13.9232	0.63945	1.0:0.0:0.0:0.0	.	23;335;335	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	Y	335;23	ENSP00000364864:N335Y;ENSP00000406287:N23Y	ENSP00000364864:N335Y	N	+	1	0	KIF3B	30362244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	1.883000	0.54544	0.379000	0.24179	AAC		0.527	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		11	49	0	0	0	0.001368	0	11	49				
BPIFA1	51297	broad.mit.edu	37	20	31827694	31827694	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:31827694G>A	ENST00000354297.4	+	4	477	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	BPIFA1_ENST00000375422.2_Missense_Mutation_p.G136S|BPIFA1_ENST00000375413.4_Missense_Mutation_p.G136S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	136					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CATCCCTCTCGGCATAAAGCT	0.572																																							uc002wyv.2		NA																	0					0						c.(406-408)GGC>AGC		palate, lung and nasal epithelium associated							131.0	122.0	125.0					20																	31827694		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31827694G>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.406G>A	20.37:g.31827694G>A	ENSP00000346251:p.Gly136Ser					PLUNC_uc002wyt.3_Missense_Mutation_p.G136S|PLUNC_uc002wyu.3_Missense_Mutation_p.G136S	p.G136S	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			4	476	+			136					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.406G>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747457	0.30955	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04862	3.54;3.54;3.54	5.44	2.45	0.29901	.	0.371143	0.26662	N	0.023154	T	0.04227	0.0117	L	0.35723	1.085	0.19300	N	0.999971	B	0.33000	0.393	B	0.24006	0.05	T	0.43572	-0.9383	10	0.19590	T	0.45	-2.0939	7.5234	0.27641	0.2631:0.0:0.7369:0.0	.	136	Q9NP55	BPIA1_HUMAN	S	136;136;136;122	ENSP00000364571:G136S;ENSP00000346251:G136S;ENSP00000364562:G136S	ENSP00000346251:G136S	G	+	1	0	BPIFA1	31291355	0.195000	0.23338	0.376000	0.26042	0.642000	0.38348	0.232000	0.17891	0.422000	0.26005	0.655000	0.94253	GGC		0.572	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		39	100	0	0	0	0.00623	0	39	100				
GDF5	8200	broad.mit.edu	37	20	34021970	34021970	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:34021970C>A	ENST00000374372.1	-	4	1746	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	GDF5OS_ENST00000374375.1_Missense_Mutation_p.S5Y|GDF5_ENST00000374369.3_Missense_Mutation_p.D415Y			P43026	GDF5_HUMAN	growth differentiation factor 5	415					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATCCAGTCGTCCCAGCCCATG	0.612																																							uc002xck.1		NA																	0					0						c.(1243-1245)GAC>TAC		growth differentiation factor 5 preproprotein							127.0	111.0	116.0					20																	34021970		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34021970C>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1243G>T	20.37:g.34021970C>A	ENSP00000363492:p.Asp415Tyr					GDF5_uc010gfc.1_Missense_Mutation_p.D415Y|uc002xcj.2_Silent_p.V127V|GDF5_uc010zvc.1_Missense_Mutation_p.D415Y	p.D415Y	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1562	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		415					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.1243G>T	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.007277|4.007277	0.75046|0.75046	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	D;D|.	0.89810|.	-2.57;-2.57|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82857|0.82857	0.5128|0.5128	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.87017|0.87017	0.2126|0.2126	10|6	0.87932|0.87932	D|D	0|0	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	415;415|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	Y|Y	415|5	ENSP00000363489:D415Y;ENSP00000363492:D415Y|.	ENSP00000363489:D415Y|ENSP00000363495:S5Y	D|S	-|+	1|2	0|0	GDF5|GDF5OS	33485384|33485384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	GAC|TCC		0.612	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			23	54	1	0	1.96895e-08	0.00278	2.93811e-08	23	54				
NDRG3	57446	broad.mit.edu	37	20	35350115	35350115	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:35350115C>A	ENST00000349004.1	-	2	105	c.24G>T	c.(22-24)caG>caT	p.Q8H	NDRG3_ENST00000373803.2_Missense_Mutation_p.Q8H|NDRG3_ENST00000359675.2_Missense_Mutation_p.Q8H|NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373773.3_5'UTR	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	8					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTCTGTGAGCTGAACATCCT	0.343																																							uc002xfw.2		NA																	0				ovary(1)	1						c.(22-24)CAG>CAT		N-myc downstream regulated gene 3 isoform a							95.0	95.0	95.0					20																	35350115		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35350115C>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.24G>T	20.37:g.35350115C>A	ENSP00000345292:p.Gln8His					NDRG3_uc002xfx.2_Missense_Mutation_p.Q8H|NDRG3_uc010zvq.1_5'UTR|NDRG3_uc010zvr.1_5'UTR	p.Q8H	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			2	106	-		Myeloproliferative disorder(115;0.00878)	8					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.24G>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373157	0.61624	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.19806	2.16;2.18;2.12	5.21	-1.68	0.08212	.	0.126218	0.56097	D	0.000022	T	0.19327	0.0464	L	0.47716	1.5	0.80722	D	1	B;P	0.48503	0.005;0.911	B;P	0.45946	0.02;0.498	T	0.03364	-1.1044	10	0.52906	T	0.07	.	9.3681	0.38237	0.0:0.5574:0.0:0.4426	.	8;8	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	H	8	ENSP00000345292:Q8H;ENSP00000362909:Q8H;ENSP00000352703:Q8H	ENSP00000345292:Q8H	Q	-	3	2	NDRG3	34783529	0.993000	0.37304	0.997000	0.53966	0.995000	0.86356	-0.046000	0.11983	-0.138000	0.11434	-0.290000	0.09829	CAG		0.343	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			15	39	1	0	5.01169e-05	0.00499	6.31398e-05	15	39				
HNF4A	3172	broad.mit.edu	37	20	43034763	43034763	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:43034763G>C	ENST00000316099.4	+	2	270	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P	HNF4A_ENST00000415691.2_Missense_Mutation_p.A61P|HNF4A_ENST00000457232.1_Missense_Mutation_p.A39P|HNF4A_ENST00000609795.1_Missense_Mutation_p.A39P|HNF4A_ENST00000443598.2_Missense_Mutation_p.A61P|HNF4A_ENST00000316673.4_Missense_Mutation_p.A39P|MIR3646_ENST00000578301.1_RNA	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	61					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCCTGTGTGCCATCTGCGG	0.632																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(181-183)GCC>CCC		hepatocyte nuclear factor 4 alpha isoform b							103.0	102.0	102.0					20																	43034763		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034763G>C	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.181G>C	20.37:g.43034763G>C	ENSP00000312987:p.Ala61Pro					HNF4A_uc010zwo.1_Silent_p.V51V|HNF4A_uc002xlt.2_Missense_Mutation_p.A39P|HNF4A_uc002xlu.2_Missense_Mutation_p.A39P|HNF4A_uc002xlv.2_Missense_Mutation_p.A39P|HNF4A_uc002xly.2_Missense_Mutation_p.A61P|HNF4A_uc002xlz.2_Missense_Mutation_p.A61P|HNF4A_uc010ggq.2_Missense_Mutation_p.A54P	p.A61P	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	270	+		Myeloproliferative disorder(115;0.0122)	61			Nuclear receptor.|NR C4-type.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.181G>C	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	g	35	5.456951	0.96223	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.215538	0.48286	D	0.000185	D	0.97911	0.9313	L	0.54323	1.7	0.80722	D	1	D;P;P;D;D;D;D	0.76494	0.999;0.934;0.934;0.993;0.998;0.997;0.991	D;D;P;D;D;D;D	0.78314	0.991;0.912;0.892;0.956;0.985;0.975;0.962	D	0.99194	1.0871	10	0.87932	D	0	.	18.7348	0.91750	0.0:0.0:1.0:0.0	.	54;61;61;61;39;39;39	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	P	39;39;61;61;91;61	ENSP00000315180:A39P;ENSP00000396216:A39P;ENSP00000312987:A61P;ENSP00000410911:A61P;ENSP00000412111:A61P	ENSP00000312987:A61P	A	+	1	0	HNF4A	42468177	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	6.585000	0.74062	2.414000	0.81942	0.645000	0.84053	GCC		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			13	123	0	0	0	0.001855	0	13	123				
ZSWIM3	140831	broad.mit.edu	37	20	44505942	44505942	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:44505942G>C	ENST00000255152.2	+	2	954	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V243L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	249							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAGTCGAGTGGTGCACTTTGC	0.542																																							uc002xqd.2		NA																	0				ovary(2)	2						c.(745-747)GTG>CTG		zinc finger, SWIM domain containing 3							76.0	72.0	73.0					20																	44505942		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505942G>C	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.745G>C	20.37:g.44505942G>C	ENSP00000255152:p.Val249Leu					ZSWIM3_uc010zxg.1_Missense_Mutation_p.V243L	p.V249L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	948	+		Myeloproliferative disorder(115;0.0122)	249					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.745G>C	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079628	0.76528	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.25250	1.81;1.81	5.49	5.49	0.81192	MULE transposase domain (1);	0.000000	0.64402	D	0.000002	T	0.51618	0.1685	M	0.65498	2.005	0.43637	D	0.996031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.36915	-0.9728	10	0.41790	T	0.15	-17.3196	19.5755	0.95441	0.0:0.0:1.0:0.0	.	243;249	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	L	249;243	ENSP00000255152:V249L;ENSP00000406313:V243L	ENSP00000255152:V249L	V	+	1	0	ZSWIM3	43939349	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.639000	0.61361	2.865000	0.98341	0.655000	0.94253	GTG		0.542	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		20	53	0	0	0	0.001523	0	20	53				
PREX1	57580	broad.mit.edu	37	20	47267939	47267939	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:47267939C>A	ENST00000371941.3	-	22	2672	c.2650G>T	c.(2650-2652)Gcc>Tcc	p.A884S	PREX1_ENST00000396220.1_Missense_Mutation_p.A884S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	884					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAGACCTTGGCGGTGAGGCCG	0.617																																							uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(2650-2652)GCC>TCC		phosphatidylinositol-3,4,							38.0	35.0	36.0					20																	47267939		2202	4300	6502	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47267939C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2650G>T	20.37:g.47267939C>A	ENSP00000361009:p.Ala884Ser					PREX1_uc002xtv.1_Missense_Mutation_p.A181S	p.A884S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		22	2673	-			884					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2650G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152313	0.94645	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.57436	0.4;0.4	4.71	4.71	0.59529	.	0.000000	0.53938	U	0.000049	T	0.72366	0.3451	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76666	-0.2875	10	0.72032	D	0.01	.	17.6886	0.88263	0.0:1.0:0.0:0.0	.	884;181	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	S	884	ENSP00000361009:A884S;ENSP00000379522:A884S	ENSP00000361009:A884S	A	-	1	0	PREX1	46701346	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	6.034000	0.70933	2.152000	0.67230	0.563000	0.77884	GCC		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		7	29	1	0	1.06961e-07	0.00308	1.55129e-07	7	29				
PREX1	57580	broad.mit.edu	37	20	47273692	47273692	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:47273692G>T	ENST00000371941.3	-	18	2031	c.2009C>A	c.(2008-2010)tCc>tAc	p.S670Y	PREX1_ENST00000396220.1_Missense_Mutation_p.S670Y	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	670	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCATTGATGGAGTAGATCTT	0.617											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(2008-2010)TCC>TAC		phosphatidylinositol-3,4,							91.0	69.0	77.0					20																	47273692		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47273692G>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2009C>A	20.37:g.47273692G>T	ENSP00000361009:p.Ser670Tyr		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_uc002xtv.1_5'Flank	p.S670Y	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		18	2032	-			670			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2009C>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056400	0.76074	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.19669	2.13;2.13	5.12	3.07	0.35406	PDZ/DHR/GLGF (3);	0.000000	0.53938	U	0.000043	T	0.30792	0.0776	N	0.24115	0.695	0.53688	D	0.999974	D	0.89917	1.0	D	0.66979	0.948	T	0.07616	-1.0763	10	0.87932	D	0	.	15.026	0.71669	0.0:0.2705:0.7295:0.0	.	670	Q8TCU6	PREX1_HUMAN	Y	670	ENSP00000361009:S670Y;ENSP00000379522:S670Y	ENSP00000361009:S670Y	S	-	2	0	PREX1	46707099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.566000	0.73978	0.492000	0.27815	0.561000	0.74099	TCC		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		5	23	1	0	0.000602214	0.000602	0.000715729	5	23				
KCNG1	3755	broad.mit.edu	37	20	49626434	49626434	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:49626434G>T	ENST00000371571.4	-	2	727	c.442C>A	c.(442-444)Cag>Aag	p.Q148K	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.Q148K	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	148					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCTCCTCCTGGAAGGACAGC	0.652																																							uc002xwa.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(442-444)CAG>AAG		potassium voltage-gated channel, subfamily G,							34.0	35.0	35.0					20																	49626434		2202	4298	6500	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626434G>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.442C>A	20.37:g.49626434G>T	ENSP00000360626:p.Gln148Lys					KCNG1_uc002xwb.2_Missense_Mutation_p.Q148K	p.Q148K	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	737	-			148			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.442C>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816721	0.50633	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.52	5.52	0.82312	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.185996	0.49305	D	0.000158	T	0.33585	0.0868	N	0.11427	0.14	0.45477	D	0.998445	P;B	0.51449	0.945;0.044	P;B	0.47134	0.539;0.057	T	0.10567	-1.0624	9	.	.	.	.	19.4415	0.94823	0.0:0.0:1.0:0.0	.	148;148	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	K	148	ENSP00000360626:Q148K;ENSP00000379338:Q148K;ENSP00000394075:Q148K;ENSP00000394093:Q148K	.	Q	-	1	0	KCNG1	49059841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.263000	0.65507	2.598000	0.87819	0.462000	0.41574	CAG		0.652	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		16	29	1	0	9.16793e-09	0.00499	1.38968e-08	16	29				
ATP9A	10079	broad.mit.edu	37	20	50292705	50292705	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:50292705C>A	ENST00000338821.5	-	10	1106	c.842G>T	c.(841-843)cGg>cTg	p.R281L	ATP9A_ENST00000311637.5_Missense_Mutation_p.R145L|ATP9A_ENST00000402822.1_Missense_Mutation_p.R160L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATGACACTCCGGAGTTCTCT	0.443																																							uc002xwg.1		NA																	0				ovary(4)	4						c.(841-843)CGG>CTG		ATPase, class II, type 9A							97.0	86.0	90.0					20																	50292705		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50292705C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.842G>T	20.37:g.50292705C>A	ENSP00000342481:p.Arg281Leu					ATP9A_uc010gih.1_Missense_Mutation_p.R145L|ATP9A_uc002xwf.1_5'UTR	p.R281L	NM_006045	NP_006036	O75110	ATP9A_HUMAN			10	842	-			281			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.842G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993297	0.93167	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;D;T	0.90563	-1.23;-2.69;-1.24	5.61	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);	0.108661	0.64402	D	0.000005	D	0.96225	0.8769	M	0.92219	3.285	0.80722	D	1	P;D	0.89917	0.768;1.0	B;D	0.91635	0.035;0.999	D	0.96981	0.9715	10	0.87932	D	0	-37.8556	14.2455	0.65986	0.0:0.9285:0.0:0.0715	.	160;281	O75110-2;O75110	.;ATP9A_HUMAN	L	145;281;160	ENSP00000309086:R145L;ENSP00000342481:R281L;ENSP00000385875:R160L	ENSP00000309086:R145L	R	-	2	0	ATP9A	49726112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.429000	0.80309	1.361000	0.45981	0.655000	0.94253	CGG		0.443	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	35	1	0	2.17888e-05	0.006214	2.81911e-05	10	35				
TSHZ2	128553	broad.mit.edu	37	20	51873022	51873022	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:51873022G>T	ENST00000371497.5	+	2	3912	c.3025G>T	c.(3025-3027)Gta>Tta	p.V1009L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1006L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1006L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1009					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAACATGCGGTAAAACTCCA	0.473																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(3025-3027)GTA>TTA		teashirt zinc finger homeobox 2							122.0	104.0	110.0					20																	51873022		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873022G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3025G>T	20.37:g.51873022G>T	ENSP00000360552:p.Val1009Leu						p.V1009L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3981	+			1009			C2H2-type 5.		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3025G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663939	0.88251	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.17691	2.26;2.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	N	0.12471	0.22	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.24476	-1.0159	10	0.87932	D	0	-9.7172	19.8075	0.96536	0.0:0.0:1.0:0.0	.	1009	Q9NRE2	TSH2_HUMAN	L	1009;1006	ENSP00000360552:V1009L;ENSP00000333114:V1006L	ENSP00000333114:V1006L	V	+	1	0	TSHZ2	51306429	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.470000	0.97683	2.681000	0.91329	0.637000	0.83480	GTA		0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		23	73	1	0	2.89027e-11	0.002299	4.77445e-11	23	73				
BCAS1	8537	broad.mit.edu	37	20	52645173	52645173	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:52645173C>A	ENST00000395961.3	-	4	647	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	BCAS1_ENST00000371440.3_Missense_Mutation_p.D161Y|BCAS1_ENST00000371435.2_Missense_Mutation_p.D161Y|BCAS1_ENST00000411563.1_Missense_Mutation_p.D64Y	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	161						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGGACCTTGTCTTGGGCCGGG	0.622																																							uc002xws.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(481-483)GAC>TAC		breast carcinoma amplified sequence 1							66.0	72.0	70.0					20																	52645173		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645173C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.481G>T	20.37:g.52645173C>A	ENSP00000379290:p.Asp161Tyr					BCAS1_uc010zzb.1_Missense_Mutation_p.D64Y|BCAS1_uc010gim.2_Missense_Mutation_p.D64Y|BCAS1_uc002xwt.2_Missense_Mutation_p.D161Y|BCAS1_uc010gil.1_Missense_Mutation_p.D161Y|BCAS1_uc010zzc.1_Missense_Mutation_p.D64Y	p.D161Y	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	819	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		161					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.481G>T	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511346|2.511346	0.44660|0.44660	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563|ENST00000448710	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	4.86|4.86	2.83|2.83	0.33086|0.33086	.|.	1.020790|.	0.07795|.	N|.	0.955552|.	T|T	0.42154|0.42154	0.1190|0.1190	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	P;P;P;D;P;P|.	0.56521|.	0.815;0.815;0.815;0.976;0.919;0.919|.	B;B;B;P;P;P|.	0.52267|.	0.413;0.246;0.246;0.694;0.61;0.61|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|6	0.66056|0.35671	D|T	0.02|0.21	-0.1466|-0.1466	12.5033|12.5033	0.55968|0.55968	0.0:0.6219:0.3781:0.0|0.0:0.6219:0.3781:0.0	.|.	64;161;161;161;161;161|.	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	Y|N	23;161;161;161;64|39	ENSP00000396361:D23Y;ENSP00000360495:D161Y;ENSP00000379290:D161Y;ENSP00000360490:D161Y;ENSP00000397442:D64Y|.	ENSP00000360490:D161Y|ENSP00000414174:K39N	D|K	-|-	1|3	0|2	BCAS1|BCAS1	52078580|52078580	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.516000|0.516000	0.22817|0.22817	0.509000|0.509000	0.28195|0.28195	0.557000|0.557000	0.71058|0.71058	GAC|AAG		0.622	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	57	1	0	1.12685e-05	0.004482	1.48953e-05	8	57				
BCAS1	8537	broad.mit.edu	37	20	52645175	52645175	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:52645175T>G	ENST00000395961.3	-	4	645	c.479A>C	c.(478-480)cAa>cCa	p.Q160P	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q160P|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q160P|BCAS1_ENST00000411563.1_Missense_Mutation_p.Q63P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	160						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GACCTTGTCTTGGGCCGGGGC	0.622																																							uc002xws.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(478-480)CAA>CCA		breast carcinoma amplified sequence 1							64.0	70.0	68.0					20																	52645175		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645175T>G	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.479A>C	20.37:g.52645175T>G	ENSP00000379290:p.Gln160Pro					BCAS1_uc010zzb.1_Missense_Mutation_p.Q63P|BCAS1_uc010gim.2_Missense_Mutation_p.Q63P|BCAS1_uc002xwt.2_Missense_Mutation_p.Q160P|BCAS1_uc010gil.1_Missense_Mutation_p.Q160P|BCAS1_uc010zzc.1_Missense_Mutation_p.Q63P	p.Q160P	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	817	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		160					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.479A>C	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.42|11.42	1.632749|1.632749	0.29068|0.29068	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448710|ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	.|T;T;T;T;T	.|0.06687	.|3.27;3.27;3.27;3.27;3.27	4.86|4.86	-3.66|-3.66	0.04489|0.04489	.|.	.|2.157650	.|0.02308	.|N	.|0.071802	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;P;P;P	.|0.38420	.|0.003;0.001;0.001;0.63;0.63;0.63	.|B;B;B;B;B;B	.|0.31495	.|0.003;0.002;0.002;0.131;0.131;0.131	T|T	0.30621|0.30621	-0.9972|-0.9972	6|10	0.26408|0.31617	T|T	0.33|0.26	9.2294|9.2294	6.3394|6.3394	0.21314|0.21314	0.0:0.3209:0.3802:0.2989|0.0:0.3209:0.3802:0.2989	.|.	.|63;160;160;160;160;160	.|B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	Q|P	39|22;160;160;160;63	.|ENSP00000396361:Q22P;ENSP00000360495:Q160P;ENSP00000379290:Q160P;ENSP00000360490:Q160P;ENSP00000397442:Q63P	ENSP00000414174:K39Q|ENSP00000360490:Q160P	K|Q	-|-	1|2	0|0	BCAS1|BCAS1	52078582|52078582	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.989000|-0.989000	0.03736|0.03736	-0.993000|-0.993000	0.03467|0.03467	-0.385000|-0.385000	0.06624|0.06624	AAG|CAA		0.622	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	56	0	0	0	0.004482	0	8	56				
CTCFL	140690	broad.mit.edu	37	20	56098847	56098847	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56098847G>T	ENST00000608263.1	-	1	1076	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	CTCFL_ENST00000243914.3_Missense_Mutation_p.Q139K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608158.1_Missense_Mutation_p.Q139K|CTCFL_ENST00000423479.3_Missense_Mutation_p.Q139K|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.Q139K|CTCFL_ENST00000432255.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000371196.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000481655.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000609232.1_Missense_Mutation_p.Q139K|CTCFL_ENST00000608440.1_Missense_Mutation_p.Q139K|CTCFL_ENST00000608425.1_Missense_Mutation_p.Q139K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	139					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGCTCTTGCTGGATACTAATG	0.582																																							uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(415-417)CAG>AAG		CCCTC-binding factor-like protein							106.0	106.0	106.0					20																	56098847		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098847G>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.415C>A	20.37:g.56098847G>T	ENSP00000476783:p.Gln139Lys					CTCFL_uc010giw.1_Missense_Mutation_p.Q139K|CTCFL_uc002xym.2_Missense_Mutation_p.Q139K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjb.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjc.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjd.1_Missense_Mutation_p.Q139K|CTCFL_uc010gje.2_Missense_Mutation_p.Q139K|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.Q139K|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjk.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjl.1_Missense_Mutation_p.Q139K	p.Q139K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	1077	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		139					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.415C>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733240	0.48939	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10960	2.82;2.87;2.87;3.04;2.91;3.19;2.9;3.45;2.92	4.91	4.91	0.64330	.	0.171883	0.27856	N	0.017575	T	0.24661	0.0598	M	0.67953	2.075	0.22762	N	0.998761	P;P;P;D;P;D;P;P	0.57257	0.941;0.948;0.956;0.969;0.9;0.979;0.9;0.888	P;P;B;D;B;P;B;B	0.64877	0.537;0.533;0.444;0.93;0.307;0.628;0.307;0.321	T	0.23904	-1.0175	10	0.05959	T	0.93	-23.4146	15.0119	0.71555	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139;139;139	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	K	139	ENSP00000415579:Q139K;ENSP00000243914:Q139K;ENSP00000360239:Q139K;ENSP00000415329:Q139K;ENSP00000392034:Q139K;ENSP00000413713:Q139K;ENSP00000403369:Q139K;ENSP00000409344:Q139K;ENSP00000399061:Q139K	ENSP00000243914:Q139K	Q	-	1	0	CTCFL	55532253	1.000000	0.71417	0.364000	0.25888	0.008000	0.06430	3.402000	0.52608	2.249000	0.74217	0.650000	0.86243	CAG		0.582	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		27	91	1	0	3.73988e-18	0.00632	7.04441e-18	27	91				
PCK1	5105	broad.mit.edu	37	20	56137200	56137200	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56137200A>G	ENST00000319441.4	+	3	462	c.298A>G	c.(298-300)Aga>Gga	p.R100G	PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	100					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAAGAGCAAAGAGACACAGT	0.547																																							uc002xyn.3		NA																	0				skin(1)	1						c.(298-300)AGA>GGA		cytosolic phosphoenolpyruvate carboxykinase 1							105.0	92.0	96.0					20																	56137200		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137200A>G		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.298A>G	20.37:g.56137200A>G	ENSP00000319814:p.Arg100Gly					PCK1_uc010zzm.1_Intron	p.R100G	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		3	461	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		100					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.298A>G	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208520	0.39003	.	.	ENSG00000124253	ENST00000319441	T	0.04406	3.63	5.45	5.45	0.79879	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	M	0.70787	2.145	0.80722	D	1	B	0.25563	0.129	B	0.31869	0.137	T	0.02391	-1.1166	10	0.54805	T	0.06	-23.897	12.1	0.53778	0.8567:0.1433:0.0:0.0	.	100	P35558	PCKGC_HUMAN	G	100	ENSP00000319814:R100G	ENSP00000319814:R100G	R	+	1	2	PCK1	55570606	1.000000	0.71417	0.986000	0.45419	0.765000	0.43378	2.269000	0.43346	2.072000	0.62099	0.533000	0.62120	AGA		0.547	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			6	50	0	0	0	0.001984	0	6	50				
PMEPA1	56937	broad.mit.edu	37	20	56227368	56227368	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56227368A>C	ENST00000341744.3	-	4	924	c.605T>G	c.(604-606)cTg>cGg	p.L202R	PMEPA1_ENST00000395816.3_Missense_Mutation_p.L152R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.L152R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.L152R|PMEPA1_ENST00000347215.4_Missense_Mutation_p.L167R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	202					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGGCCGCCCAGCCTGGCACT	0.687																																							uc002xyq.2		NA																	0				pancreas(1)	1						c.(604-606)CTG>CGG		transmembrane prostate androgen-induced protein							32.0	37.0	35.0					20																	56227368		2203	4300	6503	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227368A>C	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.605T>G	20.37:g.56227368A>C	ENSP00000345826:p.Leu202Arg					PMEPA1_uc002xyr.2_Missense_Mutation_p.L152R|PMEPA1_uc002xys.2_Missense_Mutation_p.L167R|PMEPA1_uc002xyt.2_Missense_Mutation_p.L152R	p.L202R	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN			4	998	-			202			Cytoplasmic (Potential).		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.605T>G	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234120	0.22626	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.47869	0.83;0.84;0.84;0.84;0.84;0.84	5.53	1.83	0.25207	.	0.499437	0.19331	N	0.116884	T	0.31231	0.0790	L	0.36672	1.1	0.27097	N	0.962714	B;B	0.09022	0.001;0.002	B;B	0.15052	0.007;0.012	T	0.14727	-1.0462	10	0.25751	T	0.34	-19.0344	4.9393	0.13958	0.5725:0.0:0.1722:0.2554	.	167;202	Q5JY37;Q969W9	.;PMEPA_HUMAN	R	202;167;152;152;152;174	ENSP00000345826:L202R;ENSP00000344014:L167R;ENSP00000379161:L152R;ENSP00000265626:L152R;ENSP00000379159:L152R;ENSP00000401506:L174R	ENSP00000265626:L152R	L	-	2	0	PMEPA1	55660774	0.958000	0.32768	0.723000	0.30687	0.214000	0.24535	1.249000	0.32839	0.387000	0.25024	-0.297000	0.09499	CTG		0.687	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		9	41	0	0	0	0.008291	0	9	41				
SS18L1	26039	broad.mit.edu	37	20	60737876	60737876	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:60737876G>T	ENST00000331758.3	+	5	471	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	SS18L1_ENST00000370848.4_Missense_Mutation_p.G152W|SS18L1_ENST00000421564.1_Missense_Mutation_p.G149W|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	149	Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GAGCATCTCTGGGCCCGGCTA	0.662			T	SSX1	synovial sarcoma																																		uc002ycb.2		NA		Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma		0				ovary(2)	2						c.(445-447)GGG>TGG		SS18-like protein 1							40.0	35.0	37.0					20																	60737876		2202	4298	6500	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60737876G>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.445G>T	20.37:g.60737876G>T	ENSP00000333012:p.Gly149Trp					SS18L1_uc011aaa.1_Missense_Mutation_p.G149W|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA	p.G149W	NM_198935	NP_945173	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		5	500	+	Breast(26;3.97e-09)		149			Methionine-rich intra-molecular domain (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.445G>T	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517845	0.44763	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.33654	1.4;1.4;1.43	5.23	5.23	0.72850	.	0.208386	0.39020	N	0.001494	T	0.53045	0.1772	L	0.44542	1.39	0.32853	D	0.506954	D;D	0.71674	0.996;0.998	P;D	0.65573	0.9;0.936	T	0.63418	-0.6642	10	0.87932	D	0	-6.7521	18.7907	0.91973	0.0:0.0:1.0:0.0	.	149;149	B4DSR7;O75177	.;CREST_HUMAN	W	149;149;152	ENSP00000393999:G149W;ENSP00000333012:G149W;ENSP00000359885:G152W	ENSP00000333012:G149W	G	+	1	0	SS18L1	60171271	0.998000	0.40836	0.028000	0.17463	0.002000	0.02628	3.503000	0.53340	2.438000	0.82558	0.563000	0.77884	GGG		0.662	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			6	24	1	0	3.59834e-05	0.001168	4.57629e-05	6	24				
SS18L1	26039	broad.mit.edu	37	20	60737878	60737878	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:60737878G>T	ENST00000331758.3	+	5	473	c.447G>T	c.(445-447)ggG>ggT	p.G149G	SS18L1_ENST00000370848.4_Silent_p.G152G|SS18L1_ENST00000421564.1_Silent_p.G149G|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	149	Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCATCTCTGGGCCCGGCTACA	0.662			T	SSX1	synovial sarcoma																																		uc002ycb.2		NA		Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma		0				ovary(2)	2						c.(445-447)GGG>GGT		SS18-like protein 1							40.0	35.0	37.0					20																	60737878		2202	4298	6500	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60737878G>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.447G>T	20.37:g.60737878G>T						SS18L1_uc011aaa.1_Silent_p.G149G|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA	p.G149G	NM_198935	NP_945173	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		5	502	+	Breast(26;3.97e-09)		149			Methionine-rich intra-molecular domain (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.447G>T	CCDS13491.1																																																																																				0.662	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			6	24	1	0	3.59834e-05	0.001168	4.57629e-05	6	24				
COL9A3	1299	broad.mit.edu	37	20	61453473	61453473	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:61453473G>T	ENST00000343916.3	+	9	437	c.434G>T	c.(433-435)gGa>gTa	p.G145V		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	145	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGACCTTCTGGACTCCCCGGC	0.652																																							uc002ydm.2		NA																	0					0						c.(433-435)GGA>GTA		alpha 3 type IX collagen precursor							63.0	67.0	66.0					20																	61453473		2202	4299	6501	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61453473G>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.434G>T	20.37:g.61453473G>T	ENSP00000341640:p.Gly145Val						p.G145V	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			9	437	+	Breast(26;5.68e-08)		145			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.434G>T	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680709	0.29872	.	.	ENSG00000092758	ENST00000343916;ENST00000452372;ENST00000537652	D;D	0.99353	-5.77;-4.23	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	D	0.99591	0.9852	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97859	1.0279	10	0.87932	D	0	.	16.1775	0.81862	0.0:0.0:1.0:0.0	.	145	Q14050	CO9A3_HUMAN	V	145;108;108	ENSP00000341640:G145V;ENSP00000394280:G108V	ENSP00000341640:G145V	G	+	2	0	COL9A3	60923918	0.999000	0.42202	1.000000	0.80357	0.159000	0.22180	3.458000	0.53014	2.412000	0.81896	0.591000	0.81541	GGA		0.652	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		12	51	1	0	9.31168e-06	0.001855	1.24063e-05	12	51				
TPTE	7179	broad.mit.edu	37	21	10934082	10934082	+	Missense_Mutation	SNP	C	C	A	rs139617622		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:10934082C>A	ENST00000361285.4	-	16	1224	c.895G>T	c.(895-897)Gtc>Ttc	p.V299F	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.V281F|TPTE_ENST00000342420.5_Missense_Mutation_p.V261F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	299	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		ATTCTAACGACCCTATTATGG	0.328																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(895-897)GTC>TTC		transmembrane phosphatase with tensin homology							195.0	197.0	196.0					21																	10934082		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.chr21:10934082C>A	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.895G>T	21.37:g.10934082C>A	ENSP00000355208:p.Val299Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V281F|TPTE_uc002yir.1_Missense_Mutation_p.V261F|TPTE_uc010gkv.1_Missense_Mutation_p.V161F	p.V299F	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)	16	1263	-			299			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.895G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.04	1.522790	0.27211	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98633	-5.04;-5.04;-5.04	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.98833	0.9606	M	0.85945	2.785	0.58432	D	0.999999	D;P;D	0.60575	0.959;0.851;0.988	P;P;D	0.67900	0.821;0.71;0.954	D	0.98669	1.0687	10	0.87932	D	0	-12.1292	10.2257	0.43225	0.0:1.0:0.0:0.0	.	261;281;299	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	281;299;261	ENSP00000298232:V281F;ENSP00000355208:V299F;ENSP00000344441:V261F	ENSP00000298232:V281F	V	-	1	0	TPTE	9955953	1.000000	0.71417	0.084000	0.20598	0.016000	0.09150	4.300000	0.59079	1.470000	0.48102	0.194000	0.17425	GTC		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			31	220	1	0	2.42023e-17	0.003271	4.48946e-17	31	220				
CXADR	1525	broad.mit.edu	37	21	18924196	18924196	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:18924196G>C	ENST00000284878.7	+	3	1088	c.340G>C	c.(340-342)Gat>Cat	p.D114H	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Missense_Mutation_p.D114H|CXADR_ENST00000306618.10_Missense_Mutation_p.D114H|CXADR_ENST00000400165.1_Missense_Mutation_p.D114H|CXADR_ENST00000400169.1_Missense_Mutation_p.D114H	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	114	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACAACTGTCAGATATTGGCAC	0.348																																							uc002yki.2		NA																	0				ovary(1)	1						c.(340-342)GAT>CAT		coxsackie virus and adenovirus receptor							86.0	87.0	86.0					21																	18924196		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18924196G>C	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.340G>C	21.37:g.18924196G>C	ENSP00000284878:p.Asp114His					CXADR_uc002ykh.1_Missense_Mutation_p.D114H|CXADR_uc010gld.1_Missense_Mutation_p.D114H|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Missense_Mutation_p.D87H	p.D114H	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	3	458	+			114			Extracellular (Potential).|Ig-like C2-type 1.		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.340G>C	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003832	0.54254	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.94064	0.7329	10	0.66056	D	0.02	.	18.2627	0.90041	0.0:0.0:1.0:0.0	.	114;114;114;114	P78310-4;B7WPI3;P78310;P78310-5	.;.;CXAR_HUMAN;.	H	114	ENSP00000284878:D114H;ENSP00000383030:D114H;ENSP00000383033:D114H;ENSP00000383029:D114H;ENSP00000303395:D114H	ENSP00000284878:D114H	D	+	1	0	CXADR	17846067	1.000000	0.71417	0.992000	0.48379	0.225000	0.24961	9.142000	0.94618	2.706000	0.92434	0.655000	0.94253	GAT		0.348	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			3	40	0	0	0	0.000602	0	3	40				
CCT8	10694	broad.mit.edu	37	21	30441752	30441752	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:30441752C>G	ENST00000286788.4	-	3	429	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	CCT8_ENST00000542732.1_Missense_Mutation_p.E56Q|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Intron	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	75					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACTTCTAGTTCTCTTAAAATA	0.284																																							uc002ynb.2		NA																	0					0						c.(223-225)GAA>CAA		chaperonin containing TCP1, subunit 8 (theta)							62.0	63.0	63.0					21																	30441752		2203	4294	6497	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30441752C>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.223G>C	21.37:g.30441752C>G	ENSP00000286788:p.Glu75Gln					CCT8_uc011acp.1_Missense_Mutation_p.E56Q|CCT8_uc002yna.2_Missense_Mutation_p.E24Q|CCT8_uc002ync.2_Missense_Mutation_p.E75Q|CCT8_uc010glm.2_Missense_Mutation_p.E75Q|CCT8_uc011acq.1_Intron	p.E75Q	NM_006585	NP_006576	P50990	TCPQ_HUMAN			3	322	-			75					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.223G>C	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.13|15.13	2.743230|2.743230	0.49151|0.49151	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000431234|ENST00000389159;ENST00000286788;ENST00000542732	.|T;T	.|0.81163	.|-1.46;-1.46	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Chaperonin TCP-1, conserved site (1);	0.140645|0.140645	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.82811|0.82811	0.5118|0.5118	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	.|D;P;P;B	.|0.54207	.|0.965;0.862;0.685;0.332	.|P;P;B;B	.|0.49887	.|0.549;0.625;0.301;0.061	D|D	0.84937|0.84937	0.0863|0.0863	6|10	.|0.62326	.|D	.|0.03	-19.3349|-19.3349	18.3259|18.3259	0.90254|0.90254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56;75;75;75	.|B4DEM7;Q53HU0;G5E9B2;P50990	.|.;.;.;TCPQ_HUMAN	D|Q	66|75;75;56	.|ENSP00000286788:E75Q;ENSP00000444984:E56Q	.|ENSP00000286788:E75Q	E|E	-|-	3|1	2|0	CCT8|CCT8	29363623|29363623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.475000|0.475000	0.33008|0.33008	4.483000|4.483000	0.60264|0.60264	2.642000|2.642000	0.89623|0.89623	0.643000|0.643000	0.83706|0.83706	GAG|GAA		0.284	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			5	52	0	0	0	0.001984	0	5	52				
TIAM1	7074	broad.mit.edu	37	21	32526583	32526583	+	Silent	SNP	C	C	T	rs147935563	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:32526583C>T	ENST00000286827.3	-	18	3624	c.3153G>A	c.(3151-3153)acG>acA	p.T1051T	TIAM1_ENST00000541036.1_Silent_p.T991T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1051	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGTGCGCTCCGTCTCCAGGA	0.557																																							uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3151-3153)ACG>ACA		T-cell lymphoma invasion and metastasis 1		C		0,4406		0,0,2203	71.0	66.0	68.0		3153	-12.3	0.0	21	dbSNP_134	68	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TIAM1	NM_003253.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		1051/1592	32526583	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526583C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3153G>A	21.37:g.32526583C>T						TIAM1_uc011adk.1_Silent_p.T1051T|TIAM1_uc011adl.1_Silent_p.T991T	p.T1051T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			18	3625	-			1051			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3153G>A	CCDS13609.1																																																																																				0.557	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	43	0	0	0	0.001984	0	7	43				
WDR4	10785	broad.mit.edu	37	21	44283572	44283572	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:44283572T>G	ENST00000398208.2	-	4	490	c.431A>C	c.(430-432)cAc>cCc	p.H144P	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.H144P	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CATAGACAGGTGCCCCAGCTC	0.607																																							uc002zci.2		NA																	0				ovary(1)	1						c.(430-432)CAC>CCC		WD repeat domain 4 protein							149.0	123.0	132.0					21																	44283572		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44283572T>G	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.431A>C	21.37:g.44283572T>G	ENSP00000381266:p.His144Pro					WDR4_uc002zck.1_Missense_Mutation_p.H144P|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.H144P|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	p.H144P	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	4	504	-			144			WD 2.			Missense_Mutation	SNP	ENST00000398208.2	37	c.431A>C	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246741	0.59103	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.49720	0.77;0.77	4.55	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.063338	0.64402	D	0.000006	T	0.78717	0.4327	H	0.98048	4.135	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.97110	0.892;1.0	D	0.85310	0.1078	10	0.87932	D	0	-15.1696	11.4773	0.50306	0.0:0.0:0.0:1.0	.	144;144	P57081-2;P57081	.;WDR4_HUMAN	P	144	ENSP00000328671:H144P;ENSP00000381266:H144P	ENSP00000328671:H144P	H	-	2	0	WDR4	43156641	1.000000	0.71417	0.980000	0.43619	0.416000	0.31233	6.472000	0.73567	1.719000	0.51432	0.374000	0.22700	CAC		0.607	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			4	21	0	0	0	0.000248	0	4	21				
TRPM2	7226	broad.mit.edu	37	21	45861640	45861640	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:45861640C>G	ENST00000397928.1	+	32	4897	c.4452C>G	c.(4450-4452)ctC>ctG	p.L1484L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L1430L|TRPM2_ENST00000300482.5_Silent_p.L1484L|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000397932.2_Silent_p.L1534L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1484	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCATCCCACTCTATGCGAACC	0.642																																							uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4450-4452)CTC>CTG		transient receptor potential cation channel,							106.0	76.0	86.0					21																	45861640		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861640C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4452C>G	21.37:g.45861640C>G						TRPM2_uc002zeu.1_Silent_p.L1484L|TRPM2_uc002zew.1_Silent_p.L1484L|TRPM2_uc010gpt.1_Silent_p.L1534L|TRPM2_uc002zex.1_Silent_p.L1270L|TRPM2_uc002zey.1_Silent_p.L963L|TRPM2_uc011aff.1_Silent_p.L165L	p.L1484L	NM_003307	NP_003298	O94759	TRPM2_HUMAN			33	4665	+			1484			Nudix hydrolase.|Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.4452C>G	CCDS13710.1																																																																																				0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		9	18	0	0	0	0.004482	0	9	18				
POFUT2	23275	broad.mit.edu	37	21	46687515	46687515	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:46687515C>G	ENST00000349485.5	-	8	1152	c.1126G>C	c.(1126-1128)Gca>Cca	p.A376P	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.A376P	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	376					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTGGCGTGTGCGCAGATCCAC	0.572																																							uc002zhc.2		NA																	0					0						c.(1126-1128)GCA>CCA		protein O-fucosyltransferase 2 isoform C							193.0	160.0	171.0					21																	46687515		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46687515C>G	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1126G>C	21.37:g.46687515C>G	ENSP00000339613:p.Ala376Pro					POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.A376P	p.A376P	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	8	1151	-			376					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.1126G>C	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559441	0.45590	.	.	ENSG00000186866	ENST00000331343;ENST00000349485	T;T	0.33438	1.41;1.41	4.48	-8.96	0.00761	.	0.434403	0.25584	N	0.029663	T	0.48589	0.1508	M	0.84326	2.69	0.54753	D	0.999983	D;D	0.65815	0.995;0.991	D;D	0.66979	0.938;0.948	T	0.71087	-0.4694	10	0.66056	D	0.02	-21.9913	15.8208	0.78644	0.1304:0.7874:0.0:0.0821	.	376;376	Q9Y2G5-1;Q9Y2G5	.;OFUT2_HUMAN	P	376	ENSP00000329682:A376P;ENSP00000339613:A376P	ENSP00000329682:A376P	A	-	1	0	POFUT2	45511943	0.955000	0.32602	0.101000	0.21167	0.029000	0.11900	0.177000	0.16801	-0.970000	0.03569	-1.166000	0.01754	GCA		0.572	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		16	69	0	0	0	0.004007	0	16	69				
MICAL3	57553	broad.mit.edu	37	22	18304813	18304813	+	Missense_Mutation	SNP	G	G	A	rs368481659		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:18304813G>A	ENST00000441493.2	-	24	3783	c.3431C>T	c.(3430-3432)cCg>cTg	p.P1144L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1144	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTGGTGCTTCGGTGAGGCGGG	0.582																																							uc002zng.3		NA																	0					0						c.(3430-3432)CCG>CTG		microtubule associated monoxygenase, calponin		G	LEU/PRO	1,4177		0,1,2088	108.0	120.0	116.0		3431	0.3	0.0	22		116	0,8414		0,0,4207	no	missense	MICAL3	NM_015241.2	98	0,1,6295	AA,AG,GG		0.0,0.0239,0.0079	benign	1144/2003	18304813	1,12591	2089	4207	6296	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18304813G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3431C>T	22.37:g.18304813G>A	ENSP00000416015:p.Pro1144Leu					MICAL3_uc011agl.1_Missense_Mutation_p.P1060L	p.P1144L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	24	3784	-		all_epithelial(15;0.198)	1144			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3431C>T	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.690|5.690	0.311817|0.311817	0.10789|0.10789	2.39E-4|2.39E-4	0.0|0.0	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.62941|.	-0.01|.	3.74|3.74	0.331|0.331	0.15933|0.15933	.|.	.|.	.|.	.|.	.|.	T|.	0.39708|.	0.1088|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B|.	0.27117|.	0.168|.	B|.	0.17098|.	0.017|.	T|.	0.32981|.	-0.9886|.	9|.	0.15499|.	T|.	0.54|.	.|.	6.181|6.181	0.20472|0.20472	0.3449:0.0:0.6551:0.0|0.3449:0.0:0.6551:0.0	.|.	1144|.	Q7RTP6|.	MICA3_HUMAN|.	L|X	1144|126	ENSP00000416015:P1144L|.	ENSP00000416015:P1144L|.	P|R	-|-	2|1	0|2	XXbac-B461K10.4|XXbac-B461K10.4	16684813|16684813	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.700000|0.700000	0.25601|0.25601	0.050000|0.050000	0.15949|0.15949	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			11	85	0	0	0	0.00245	0	11	85				
CLTCL1	8218	broad.mit.edu	37	22	19175534	19175534	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:19175534C>G	ENST00000263200.10	-	28	4465	c.4393G>C	c.(4393-4395)Gag>Cag	p.E1465Q	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1465Q|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1465Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1465	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTGAGTGCCTCATTCACACTC	0.597			T	?	ALCL																																		uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(4393-4395)GAG>CAG		clathrin, heavy polypeptide-like 1 isoform 1							196.0	199.0	198.0					22																	19175534		2068	4205	6273	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175534C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4393G>C	22.37:g.19175534C>G	ENSP00000445677:p.Glu1465Gln					CLTCL1_uc011agv.1_Missense_Mutation_p.E1465Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1444Q|CLTCL1_uc011agt.1_Missense_Mutation_p.E256Q|CLTCL1_uc011agu.1_Intron	p.E1465Q	NM_007098	NP_009029	P53675	CLH2_HUMAN			29	4468	-	Colorectal(54;0.0993)		1465			Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4393G>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224463	0.79576	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20598	2.06;2.06;2.06	4.13	4.13	0.48395	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.71296	2.17	0.80722	D	1	D;D	0.76494	0.986;0.999	D;D	0.97110	0.942;1.0	T	0.47636	-0.9102	10	0.49607	T	0.09	-20.5581	16.5601	0.84551	0.0:1.0:0.0:0.0	.	1465;1465	P53675-2;P53675	.;CLH2_HUMAN	Q	1465	ENSP00000439662:E1465Q;ENSP00000445677:E1465Q;ENSP00000441158:E1465Q	ENSP00000445677:E1465Q	E	-	1	0	CLTCL1	17555534	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	6.958000	0.76025	2.141000	0.66446	0.655000	0.94253	GAG		0.597	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		9	152	0	0	0	0.006214	0	9	152				
MYO18B	84700	broad.mit.edu	37	22	26423548	26423548	+	Missense_Mutation	SNP	C	C	A	rs371367584		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:26423548C>A	ENST00000407587.2	+	43	7780	c.7611C>A	c.(7609-7611)gaC>gaA	p.D2537E	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2536E|MYO18B_ENST00000335473.7_Missense_Mutation_p.D2536E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2536						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGCGGGTGACGGTGGCGAGC	0.567																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7606-7608)GAC>GAA		myosin XVIIIB							43.0	45.0	45.0					22																	26423548		2009	4153	6162	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423548C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7611C>A	22.37:g.26423548C>A	ENSP00000386096:p.Asp2537Glu					MYO18B_uc003aca.1_Missense_Mutation_p.D2417E|MYO18B_uc010guy.1_Missense_Mutation_p.D2418E|MYO18B_uc010guz.1_Missense_Mutation_p.D2416E|MYO18B_uc011aka.1_Missense_Mutation_p.D1690E|MYO18B_uc011akb.1_Missense_Mutation_p.D2049E|MYO18B_uc010gva.1_Missense_Mutation_p.D519E|MYO18B_uc010gvb.1_RNA	p.D2536E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7858	+			2536					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7608C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.874|7.874	0.728692|0.728692	0.15507|0.15507	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86497|.	-2.11;-2.11;-2.13|.	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	0.188313|.	0.31279|.	N|.	0.007925|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.29341|.	0.099;0.156;0.156;0.239;0.242|.	B;B;B;B;B|.	0.28139|.	0.03;0.04;0.04;0.051;0.086|.	T|T	0.47328|0.47328	-0.9126|-0.9126	10|5	0.34782|.	T|.	0.22|.	.|.	10.2648|10.2648	0.43449|0.43449	0.0705:0.6324:0.0755:0.2215|0.0705:0.6324:0.0755:0.2215	.|.	2049;2538;2536;2537;2536|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	E|K	2536;2536;2537|486	ENSP00000441229:D2536E;ENSP00000334563:D2536E;ENSP00000386096:D2537E|.	ENSP00000334563:D2536E|.	D|T	+|+	3|2	2|0	MYO18B|MYO18B	24753548|24753548	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-3.929000|-3.929000	0.00332|0.00332	-2.427000|-2.427000	0.00559|0.00559	-0.258000|-0.258000	0.10820|0.10820	GAC|ACG		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	16	1	0	2.17888e-05	0.006214	2.81911e-05	8	16				
SF3A1	10291	broad.mit.edu	37	22	30736319	30736319	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:30736319G>T	ENST00000215793.8	-	9	1395	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	SF3A1_ENST00000439242.1_Missense_Mutation_p.P349H	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	414					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCCAGTAATGGGGGACACAAG	0.562																																							uc003ahl.2		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1240-1242)CCC>CAC		splicing factor 3a, subunit 1, 120kDa isoform 1							66.0	67.0	67.0					22																	30736319		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736319G>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1241C>A	22.37:g.30736319G>T	ENSP00000215793:p.Pro414His						p.P414H	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			9	1373	-			414					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1241C>A	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310757	0.40895	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.50001	0.76;0.82	6.07	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.93150	3.385	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.67015	-0.5777	10	0.87932	D	0	-16.1246	16.789	0.85582	0.0:0.0:0.87:0.13	.	414	Q15459	SF3A1_HUMAN	H	349;414;311;110	ENSP00000390336:P349H;ENSP00000215793:P414H	ENSP00000215793:P414H	P	-	2	0	SF3A1	29066319	1.000000	0.71417	0.996000	0.52242	0.344000	0.29017	9.691000	0.98679	1.557000	0.49525	-0.182000	0.12963	CCC		0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		31	37	1	0	1.99505e-19	0.002445	3.8005e-19	31	37				
CSNK1E	1454	broad.mit.edu	37	22	38696770	38696770	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:38696770C>A	ENST00000396832.1	-	5	784	c.524G>T	c.(523-525)gGc>gTc	p.G175V	CSNK1E_ENST00000405675.3_Missense_Mutation_p.G175V|CSNK1E_ENST00000400206.2_Missense_Mutation_p.G175V|CSNK1E_ENST00000359867.3_Missense_Mutation_p.G175V|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.G175V|CSNK1E_ENST00000413574.2_Missense_Mutation_p.G175V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCGGGCCGTGCCGGTCAGGTT	0.647																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(523-525)GGC>GTC		casein kinase 1 epsilon							122.0	104.0	110.0					22																	38696770		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696770C>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.524G>T	22.37:g.38696770C>A	ENSP00000380044:p.Gly175Val					CSNK1E_uc003avk.2_Missense_Mutation_p.G175V|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.G175V|CSNK1E_uc003avo.2_Missense_Mutation_p.G175V|CSNK1E_uc003avp.1_Missense_Mutation_p.G175V|CSNK1E_uc003avq.1_Missense_Mutation_p.G175V	p.G175V	NM_152221	NP_689407	P49674	KC1E_HUMAN			5	785	-	Melanoma(58;0.045)		175			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.524G>T	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.294500|4.294500	0.81025|0.81025	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	.|T;T;T;T;T;T;T	.|0.15017	.|2.46;2.46;2.46;2.46;2.46;2.46;2.46	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.143223	.|0.64402	.|D	.|0.000006	T|T	0.65471|0.65471	0.2694|0.2694	H|H	0.99855|0.99855	4.85|4.85	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.994	.|D;D;P	.|0.72982	.|0.979;0.946;0.894	T|T	0.83225|0.83225	-0.0066|-0.0066	5|10	.|0.87932	.|D	.|0	.|.	18.3051|18.3051	0.90177|0.90177	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|175;175;175	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	S|V	113|175	.|ENSP00000352929:G175V;ENSP00000380044:G175V;ENSP00000383067:G175V;ENSP00000384074:G175V;ENSP00000407235:G175V;ENSP00000384426:G175V;ENSP00000412335:G175V	.|ENSP00000352929:G175V	A|G	-|-	1|2	0|0	CSNK1E|CSNK1E	37026716|37026716	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.645000|0.645000	0.38454|0.38454	7.544000|7.544000	0.82117|0.82117	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.647	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		12	35	1	0	4.36969e-10	0.001855	6.96144e-10	12	35				
RPL3	6122	broad.mit.edu	37	22	39709261	39709261	+	Missense_Mutation	SNP	T	T	C	rs150061768		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:39709261T>C	ENST00000216146.4	-	9	1275	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.I316V	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	368					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GTGGTGTCAATGAACTTAAGG	0.572																																							uc003axi.2		NA																	0				breast(1)|kidney(1)	2						c.(1102-1104)ATT>GTT		ribosomal protein L3 isoform a		T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	30.0	29.0	29.0		1102,955	5.2	1.0	22	dbSNP_134	29	0,8592		0,0,4296	no	missense,missense	RPL3	NM_000967.3,NM_001033853.1	29,29	0,1,6498	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	368/404,319/355	39709261	1,12997	2203	4296	6499	SO:0001583	missense	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39709261T>C	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1102A>G	22.37:g.39709261T>C	ENSP00000346001:p.Ile368Val					RPL3_uc003axh.2_Missense_Mutation_p.I319V|RPL3_uc003axj.2_Missense_Mutation_p.I216V|RPL3_uc010gxx.2_Intron|RPL3_uc003axg.2_Missense_Mutation_p.I316V|RPL3_uc003axk.1_Missense_Mutation_p.I216V	p.I368V	NM_000967	NP_000958	P39023	RL3_HUMAN			9	1170	-	Melanoma(58;0.04)		368					B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	c.1102A>G	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413190	0.62511	2.27E-4	0.0	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.43688	0.94;0.94	5.22	5.22	0.72569	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	M	0.63428	1.95	0.80722	D	1	B;B;B	0.20459	0.042;0.006;0.045	B;B;B	0.27170	0.077;0.012;0.029	T	0.38478	-0.9659	10	0.44086	T	0.13	.	15.0807	0.72113	0.0:0.0:0.0:1.0	.	316;368;319	G5E9G0;P39023;B3KS36	.;RL3_HUMAN;.	V	316;368	ENSP00000386101:I316V;ENSP00000346001:I368V	ENSP00000346001:I368V	I	-	1	0	RPL3	38039207	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	6.239000	0.72356	1.982000	0.57802	0.379000	0.24179	ATT		0.572	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		3	11	0	0	0	0.004672	0	3	11				
TAB1	10454	broad.mit.edu	37	22	39817853	39817853	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:39817853C>T	ENST00000216160.6	+	8	860	c.798C>T	c.(796-798)atC>atT	p.I266I	TAB1_ENST00000331454.3_Silent_p.I266I	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	266	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCAAACCAATCATCGCAGAGC	0.587																																							uc003axt.2		NA																	0				breast(1)	1						c.(796-798)ATC>ATT		mitogen-activated protein kinase kinase kinase 7							85.0	82.0	83.0					22																	39817853		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor 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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39817853C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.798C>T	22.37:g.39817853C>T						TAB1_uc003axr.2_Silent_p.I342I|TAB1_uc011aok.1_Silent_p.I100I|TAB1_uc003axu.1_Silent_p.I266I	p.I266I	NM_006116	NP_006107	Q15750	TAB1_HUMAN			8	847	+			266			PP2C-like.		Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.798C>T	CCDS13993.1																																																																																				0.587	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		13	62	0	0	0	0.00245	0	13	62				
ENTHD1	150350	broad.mit.edu	37	22	40139765	40139765	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:40139765C>T	ENST00000325157.6	-	7	1993	c.1743G>A	c.(1741-1743)atG>atA	p.M581I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	581										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GACTCATGCTCATCAAGATGT	0.403																																							uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(1741-1743)ATG>ATA		ENTH domain containing 1							142.0	121.0	128.0					22																	40139765		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139765C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1743G>A	22.37:g.40139765C>T	ENSP00000317431:p.Met581Ile						p.M581I	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1994	-	Melanoma(58;0.0749)		581					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1743G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302838	0.01353	.	.	ENSG00000176177	ENST00000325157	T	0.29142	1.58	5.55	-5.76	0.02376	.	1.056360	0.07530	N	0.912093	T	0.14527	0.0351	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.20519	T	0.43	0.1029	9.0038	0.36100	0.0:0.5198:0.2001:0.2801	.	581	Q8IYW4	ENTD1_HUMAN	I	581	ENSP00000317431:M581I	ENSP00000317431:M581I	M	-	3	0	ENTHD1	38469711	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.103000	0.01341	-1.015000	0.03375	-0.302000	0.09304	ATG		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		8	47	0	0	0	0.00308	0	8	47				
EP300	2033	broad.mit.edu	37	22	41489047	41489047	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:41489047C>G	ENST00000263253.7	+	1	1258	c.39C>G	c.(37-39)gcC>gcG	p.A13A	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	13	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGCCTTCAGCCAAGCGGCCTA	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																														uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(37-39)GCC>GCG		E1A binding protein p300							69.0	82.0	78.0					22																	41489047		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybsyndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41489047C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.39C>G	22.37:g.41489047C>G							p.A13A	NM_001429	NP_001420	Q09472	EP300_HUMAN			1	434	+			13			Interaction with ALX1.|Nuclear localization signal (Potential).		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.39C>G	CCDS14010.1																																																																																				0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	101	0	0	0	0.001984	0	6	101				
MPPED1	758	broad.mit.edu	37	22	43821208	43821208	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:43821208G>T	ENST00000417669.2	+	2	661	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	MPPED1_ENST00000542779.1_Missense_Mutation_p.V73L|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106L|MPPED1_ENST00000443721.1_Missense_Mutation_p.V73L|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	73							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCACCGCATGTGCAGATGTA	0.657																																							uc011apv.1		NA																	0					0						c.(217-219)GTG>TTG		metallophosphoesterase domain containing 1							35.0	38.0	37.0					22																	43821208		2123	4255	6378	SO:0001583	missense	758						hydrolase activity	g.chr22:43821208G>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.217G>T	22.37:g.43821208G>T	ENSP00000388137:p.Val73Leu					MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.V73L|MPPED1_uc011apz.1_Missense_Mutation_p.V106L	p.V73L	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			2	440	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	73					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.217G>T	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951950	0.73787	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.56444	0.83;0.46;0.83;0.83;0.76	5.2	5.2	0.72013	.	0.145193	0.46758	D	0.000278	T	0.45895	0.1365	L	0.27053	0.805	0.80722	D	1	P;P	0.46020	0.871;0.468	B;B	0.43783	0.431;0.178	T	0.47471	-0.9115	10	0.48119	T	0.1	-29.7645	16.8942	0.86095	0.0:0.0:1.0:0.0	.	106;73	B7Z2S9;O15442	.;MPPD1_HUMAN	L	73;73;73;51;73;73;106	ENSP00000388137:V73L;ENSP00000335568:V73L;ENSP00000400686:V73L;ENSP00000444532:V73L;ENSP00000438335:V106L	ENSP00000335568:V73L	V	+	1	0	MPPED1	42151152	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.205000	0.95048	2.430000	0.82344	0.655000	0.94253	GTG		0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		9	15	1	0	0.00448238	0.004482	0.00518058	9	15				
KIAA0930	23313	broad.mit.edu	37	22	45595905	45595905	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:45595905G>T	ENST00000336156.5	-	8	929	c.864C>A	c.(862-864)ttC>ttA	p.F288L	KIAA0930_ENST00000443310.3_Missense_Mutation_p.F270L|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Missense_Mutation_p.F293L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.F254L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	288										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGGGTGTGCTGAAGGAGGTCA	0.612																																							uc003bfx.1		NA																	0					0						c.(862-864)TTC>TTA		hypothetical protein LOC23313 isoform b							47.0	44.0	45.0					22																	45595905		2202	4300	6502	SO:0001583	missense	23313						protein binding	g.chr22:45595905G>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.864C>A	22.37:g.45595905G>T	ENSP00000336720:p.Phe288Leu					C22orf9_uc010gzw.1_Missense_Mutation_p.F140L|C22orf9_uc003bfv.1_Missense_Mutation_p.F297L|C22orf9_uc003bfw.1_Missense_Mutation_p.F293L|C22orf9_uc010gzx.2_Missense_Mutation_p.F270L	p.F288L	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	8	930	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	288					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.864C>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062414	0.55432	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	5.03	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	L	0.51422	1.61	0.58432	D	0.999998	B;B;P;P	0.43287	0.062;0.243;0.802;0.688	B;B;B;B	0.40677	0.024;0.079;0.337;0.185	T	0.26677	-1.0096	9	0.33940	T	0.23	-28.0586	10.5952	0.45333	0.1591:0.0:0.8409:0.0	.	270;288;293;359	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	L	288;173;293;254;270	.	ENSP00000251993:F293L	F	-	3	2	KIAA0930	43974569	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.235000	0.65348	0.499000	0.27970	-0.291000	0.09656	TTC		0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		7	25	1	0	0.000442599	0.006214	0.000529778	7	25				
FBLN1	2192	broad.mit.edu	37	22	45923784	45923784	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:45923784G>C	ENST00000327858.6	+	4	474	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	FBLN1_ENST00000442170.2_Missense_Mutation_p.E127Q|FBLN1_ENST00000348697.2_Missense_Mutation_p.E127Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.E165Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.E127Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.E127Q	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	127	Anaphylatoxin-like 3. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGAGCTGCGAGTACAGCCT	0.622																																							uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(379-381)GAG>CAG		fibulin 1 isoform D							80.0	76.0	77.0					22																	45923784		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45923784G>C		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.379G>C	22.37:g.45923784G>C	ENSP00000331544:p.Glu127Gln					FBLN1_uc003bgg.1_Missense_Mutation_p.E127Q|FBLN1_uc003bgh.2_Missense_Mutation_p.E127Q|FBLN1_uc010gzz.2_Missense_Mutation_p.E165Q|FBLN1_uc003bgi.1_Missense_Mutation_p.E127Q	p.E127Q	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	4	526	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	127			Anaphylatoxin-like 3.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.379G>C	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561585	0.86335	.	.	ENSG00000077942	ENST00000411478;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000454279;ENST00000451475	T;T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.21	5.21	0.72293	Anaphylatoxin/fibulin (4);	0.151168	0.64402	D	0.000016	T	0.51534	0.1680	L	0.59436	1.845	0.48901	D	0.999726	D;D;D;D	0.89917	1.0;0.997;0.97;0.998	D;D;P;D	0.74674	0.984;0.943;0.856;0.953	T	0.38178	-0.9673	10	0.25751	T	0.34	.	18.3606	0.90372	0.0:0.0:1.0:0.0	.	165;127;127;127	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	Q	135;127;127;165;127;127;127;127;85;67	ENSP00000415289:E135Q;ENSP00000402963:E127Q;ENSP00000262723:E127Q;ENSP00000385521:E165Q;ENSP00000262722:E127Q;ENSP00000331544:E127Q;ENSP00000393812:E127Q;ENSP00000342212:E127Q;ENSP00000414584:E85Q;ENSP00000415160:E67Q	ENSP00000262722:E127Q	E	+	1	0	FBLN1	44302448	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.146000	0.94640	2.416000	0.81992	0.655000	0.94253	GAG		0.622	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		16	48	0	0	0	0.004007	0	16	48				
ZBED4	9889	broad.mit.edu	37	22	50280622	50280622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:50280622G>A	ENST00000216268.5	+	2	3789	c.3312G>A	c.(3310-3312)tgG>tgA	p.W1104*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1104						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCTACTGGAACCTGAAGA	0.567																																							uc003bix.2		NA																	0				ovary(2)	2						c.(3310-3312)TGG>TGA		zinc finger, BED-type containing 4							67.0	56.0	60.0					22																	50280622		2203	4300	6503	SO:0001587	stop_gained	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280622G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3312G>A	22.37:g.50280622G>A	ENSP00000216268:p.Trp1104*						p.W1104*	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3782	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	1104					B2RZH1|Q1ECU0|Q9UGG8	Nonsense_Mutation	SNP	ENST00000216268.5	37	c.3312G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	45	11.532160	0.99572	.	.	ENSG00000100426	ENST00000216268	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.0151	18.8805	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	1104	.	ENSP00000216268:W1104X	W	+	3	0	ZBED4	48666626	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.033000	0.93741	2.707000	0.92482	0.655000	0.94253	TGG		0.567	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		7	16	0	0	0	0.001984	0	7	16				
GRM7	2917	broad.mit.edu	37	3	7340513	7340513	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:7340513G>T	ENST00000357716.4	+	3	1152		c.e3+1		GRM7_ENST00000403881.1_Splice_Site|GRM7_ENST00000486284.1_Splice_Site|GRM7_ENST00000402647.2_Splice_Site|GRM7_ENST00000389336.4_Splice_Site	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGGATATAAAGTAAGAATAAC	0.413																																							uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.e3+1		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						64.0	63.0	63.0					3																	7340513		2203	4299	6502	SO:0001630	splice_region_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7340513G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.878+1G>T	3.37:g.7340513G>T						GRM7_uc011ata.1_Splice_Site|GRM7_uc011atb.1_Splice_Site|GRM7_uc010hcf.2_Splice_Site|GRM7_uc011atc.1_Splice_Site|GRM7_uc010hcg.2_Splice_Site_p.K293_splice|GRM7_uc003bql.2_Splice_Site_p.K293_splice|GRM7_uc003bqn.1_Splice_Site	p.K293_splice	NM_000844	NP_000835	Q14831	GRM7_HUMAN			3	1152	+								Q8NFS2|Q8NFS3|Q8NFS4	Splice_Site	SNP	ENST00000357716.4	37	c.878_splice	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197588	0.79015	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9564	0.89070	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRM7	7315513	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.743000	0.98849	2.648000	0.89879	0.650000	0.86243	.		0.413	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	Intron	10	29	1	0	3.07112e-06	0.000978	4.16617e-06	10	29				
SRGAP3	9901	broad.mit.edu	37	3	9055201	9055201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:9055201G>T	ENST00000383836.3	-	17	2365	c.1938C>A	c.(1936-1938)gaC>gaA	p.D646E	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D622E	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	646	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCATGTTCTCGTCGCTATACT	0.542			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(1936-1938)GAC>GAA		SLIT-ROBO Rho GTPase activating protein 3							96.0	91.0	93.0					3																	9055201		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055201G>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1938C>A	3.37:g.9055201G>T	ENSP00000373347:p.Asp646Glu					SRGAP3_uc003brg.1_Missense_Mutation_p.D622E	p.D646E	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2614	-			646			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1938C>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392384	0.62066	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.42900	0.96;2.01	5.54	2.71	0.32032	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	N	0.13198	0.31	0.58432	D	0.999997	B;B	0.28291	0.189;0.206	P;P	0.48815	0.455;0.591	T	0.18967	-1.0320	10	0.18276	T	0.48	.	6.0068	0.19551	0.4486:0.0:0.5514:0.0	.	622;646	O43295-2;O43295	.;SRGP2_HUMAN	E	646;622	ENSP00000373347:D646E;ENSP00000353587:D622E	ENSP00000353587:D622E	D	-	3	2	SRGAP3	9030201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.220000	0.32491	1.312000	0.45043	0.655000	0.94253	GAC		0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			11	32	1	0	0.000978159	0.000978	0.00115742	11	32				
SRGAP3	9901	broad.mit.edu	37	3	9074378	9074378	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:9074378A>T	ENST00000383836.3	-	12	1922	c.1495T>A	c.(1495-1497)Tat>Aat	p.Y499N	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	499	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTATGGCTATACACTGAGAGA	0.493			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(1495-1497)TAT>AAT		SLIT-ROBO Rho GTPase activating protein 3							77.0	83.0	81.0					3																	9074378		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9074378A>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1495T>A	3.37:g.9074378A>T	ENSP00000373347:p.Tyr499Asn					SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	p.Y499N	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	12	2171	-			499			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1495T>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843940	0.51164	.	.	ENSG00000196220	ENST00000383836	T	0.23950	1.88	5.46	5.46	0.80206	Rho GTPase-activating protein domain (1);	0.287717	0.34133	N	0.004227	T	0.19127	0.0459	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03795	-1.1003	10	0.28530	T	0.3	.	15.2089	0.73202	1.0:0.0:0.0:0.0	.	499	O43295	SRGP2_HUMAN	N	499	ENSP00000373347:Y499N	ENSP00000373347:Y499N	Y	-	1	0	SRGAP3	9049378	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.307000	0.78920	2.068000	0.61886	0.460000	0.39030	TAT		0.493	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			16	60	0	0	0	0.00499	0	16	60				
SETD5	55209	broad.mit.edu	37	3	9515147	9515147	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:9515147G>T	ENST00000406341.1	+	19	3613	c.3423G>T	c.(3421-3423)gaG>gaT	p.E1141D	SETD5_ENST00000407969.1_Missense_Mutation_p.E1160D|SETD5_ENST00000402466.1_Missense_Mutation_p.E1043D|SETD5_ENST00000402198.1_Missense_Mutation_p.E1141D|SETD5_ENST00000302463.6_Missense_Mutation_p.E1043D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1141	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCCATTTGGAGGCGGTAAGCC	0.478																																							uc003brt.2		NA																	0				ovary(2)	2						c.(3421-3423)GAG>GAT		SET domain containing 5							72.0	70.0	71.0					3																	9515147		1903	4129	6032	SO:0001583	missense	55209							g.chr3:9515147G>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3423G>T	3.37:g.9515147G>T	ENSP00000383939:p.Glu1141Asp					SETD5_uc003bru.2_Missense_Mutation_p.E1043D|SETD5_uc003brv.2_Missense_Mutation_p.E1030D|SETD5_uc010hck.2_Missense_Mutation_p.E623D|SETD5_uc003brx.2_Missense_Mutation_p.E810D	p.E1141D	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3858	+	Medulloblastoma(99;0.227)		1141			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3423G>T	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052039|3.052039	0.55218|0.55218	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.93953|.	-3.06;-3.32;-3.06;-2.96;-3.32|.	6.07|6.07	5.13|5.13	0.70059|0.70059	.|.	0.064020|.	0.64402|.	D|.	0.000005|.	T|T	0.54549|0.54549	0.1865|0.1865	N|N	0.20986|0.20986	0.625|0.625	0.42882|0.42882	D|D	0.994177|0.994177	B;B;B|.	0.25169|.	0.119;0.02;0.005|.	B;B;B|.	0.24269|.	0.052;0.016;0.005|.	T|T	0.47586|0.47586	-0.9106|-0.9106	10|5	0.52906|.	T|.	0.07|.	-13.26|-13.26	18.1337|18.1337	0.89610|0.89610	0.0:0.0:0.8719:0.1281|0.0:0.0:0.8719:0.1281	.|.	810;1043;1141|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|C	1141;1043;1141;1160;1043|809	ENSP00000385852:E1141D;ENSP00000384429:E1043D;ENSP00000383939:E1141D;ENSP00000384114:E1160D;ENSP00000302028:E1043D|.	ENSP00000302028:E1043D|.	E|G	+|+	3|1	2|0	SETD5|SETD5	9490147|9490147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.868000|4.868000	0.63021|0.63021	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAG|GGC		0.478	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	12	1	0	3.59834e-05	0.001168	4.57629e-05	5	12				
FANCD2OS	115795	broad.mit.edu	37	3	10146187	10146187	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:10146187G>A	ENST00000450660.2	-	2	488	c.272C>T	c.(271-273)cCc>cTc	p.P91L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.P91L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	91																	GATGGGCTGGGGCTTCCTGAC	0.532																																							uc003buz.2		NA																	0					0						c.(271-273)CCC>CTC		hypothetical protein LOC115795							125.0	115.0	118.0					3																	10146187		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146187G>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.272C>T	3.37:g.10146187G>A	ENSP00000429608:p.Pro91Leu					C3orf24_uc003bva.1_Missense_Mutation_p.P91L	p.P91L	NM_173472	NP_775743	Q96PS1	CC024_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.196)	2	497	-			91						Missense_Mutation	SNP	ENST00000450660.2	37	c.272C>T	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894313	0.72639	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.75	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.46580	0.1400	L	0.29908	0.895	0.58432	D	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.43491	-0.9388	9	0.87932	D	0	.	12.8928	0.58082	0.0786:0.0:0.9214:0.0	.	91	Q96PS1	CC024_HUMAN	L	91	.	ENSP00000429608:P91L	P	-	2	0	C3orf24	10121187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.202000	0.58446	1.460000	0.47911	0.650000	0.86243	CCC		0.532	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		19	53	0	0	0	0.001216	0	19	53				
SLC6A1	6529	broad.mit.edu	37	3	11072886	11072886	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:11072886C>G	ENST00000287766.4	+	13	1768	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L	SLC6A1_ENST00000536032.1_Silent_p.L271L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	449					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCAAACTCTTTGACTACT	0.498																																							uc010hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(1345-1347)CTC>CTG		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						285.0	263.0	271.0					3																	11072886		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11072886C>G		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1347C>G	3.37:g.11072886C>G							p.L449L	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	13	1758	+		Ovarian(110;0.0392)	449					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.1347C>G	CCDS2603.1																																																																																				0.498	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		6	159	0	0	0	0.001984	0	6	159				
CAND2	23066	broad.mit.edu	37	3	12845083	12845083	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:12845083G>T	ENST00000456430.2	+	2	206	c.165G>T	c.(163-165)cgG>cgT	p.R55R	CAND2_ENST00000295989.5_Silent_p.R55R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	55					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTGCTCCGGCTCCTGGAGG	0.617																																					GBM(43;676 868 1633 6395 37496)	GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NA																	0				skin(3)|pancreas(1)	4						c.(163-165)CGG>CGT		TBP-interacting protein isoform 1							55.0	61.0	59.0					3																	12845083		2200	4300	6500	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845083G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.165G>T	3.37:g.12845083G>T						CAND2_uc003bxj.2_Silent_p.R55R	p.R55R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			2	214	+			55			HEAT 2.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.165G>T	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		12	14	1	0	0.00010058	0.001368	0.000124382	12	14				
KCNH8	131096	broad.mit.edu	37	3	19295220	19295220	+	Nonsense_Mutation	SNP	G	G	T	rs545887787		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:19295220G>T	ENST00000328405.2	+	2	417	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	51	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGGCTTCTGCGAGCTTGCTGG	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(151-153)GAG>TAG		potassium voltage-gated channel, subfamily H,							180.0	184.0	183.0					3																	19295220		2203	4300	6503	SO:0001587	stop_gained	131096					integral to membrane	two-component sensor activity	g.chr3:19295220G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.151G>T	3.37:g.19295220G>T	ENSP00000328813:p.Glu51*					KCNH8_uc011awe.1_Nonsense_Mutation_p.E51*|KCNH8_uc010hex.1_5'UTR	p.E51*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			2	346	+			51			Cytoplasmic (Potential).|PAS.		B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	c.151G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	40	8.148463	0.98678	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.58	5.58	0.84498	.	0.000000	0.31660	U	0.007263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5716	0.95423	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	.	E	+	1	0	KCNH8	19270224	1.000000	0.71417	0.982000	0.44146	0.928000	0.56348	9.771000	0.98977	2.611000	0.88343	0.655000	0.94253	GAG		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		46	103	1	0	6.08268e-21	0.00361	1.1754e-20	46	103				
SUSD5	26032	broad.mit.edu	37	3	33195367	33195367	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:33195367T>A	ENST00000309558.3	-	5	1174	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	253					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCACAGAAATGGAGACCAGA	0.562																																							uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(757-759)ATT>TTT		sushi domain containing 5 precursor							64.0	62.0	63.0					3																	33195367		1880	4109	5989	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195367T>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.757A>T	3.37:g.33195367T>A	ENSP00000308727:p.Ile253Phe						p.I253F	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1175	-			253			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000309558.3	37	c.757A>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513380	0.27123	.	.	ENSG00000173705	ENST00000309558	T	0.06849	3.25	5.9	-1.03	0.10102	.	1.017860	0.07824	N	0.960221	T	0.05823	0.0152	L	0.51422	1.61	0.09310	N	1	P	0.42409	0.779	B	0.33690	0.168	T	0.31336	-0.9947	10	0.06494	T	0.89	-0.2856	7.1496	0.25604	0.0:0.4055:0.1389:0.4556	.	253	O60279	SUSD5_HUMAN	F	253	ENSP00000308727:I253F	ENSP00000308727:I253F	I	-	1	0	SUSD5	33170371	0.003000	0.15002	0.012000	0.15200	0.396000	0.30629	-0.208000	0.09371	-0.068000	0.12953	0.533000	0.62120	ATT		0.562	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		11	33	0	0	0	0.000978	0	11	33				
GOLGA4	2803	broad.mit.edu	37	3	37360566	37360566	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:37360566G>C	ENST00000361924.2	+	12	1800	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E498Q|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	476	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATCCTCAGAAGAACAAATTGC	0.363																																							uc003cgv.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1426-1428)GAA>CAA		golgi autoantigen, golgin subfamily a, 4							70.0	79.0	76.0					3																	37360566		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37360566G>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1426G>C	3.37:g.37360566G>C	ENSP00000354486:p.Glu476Gln					GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.E498Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E357Q	p.E476Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			12	1730	+			476			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.1426G>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586466	0.66105	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.30448	1.54;1.53;1.59	4.43	3.55	0.40652	.	0.718276	0.11411	N	0.566792	T	0.31451	0.0797	N	0.05574	-0.02	0.28359	N	0.920538	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.997;0.923	T	0.16988	-1.0384	10	0.27785	T	0.31	.	8.265	0.31808	0.0845:0.1581:0.7574:0.0	.	476;498;476	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	Q	476;498;347	ENSP00000354486:E476Q;ENSP00000349305:E498Q;ENSP00000405842:E347Q	ENSP00000349305:E498Q	E	+	1	0	GOLGA4	37335570	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	4.815000	0.62634	0.802000	0.34089	0.655000	0.94253	GAA		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		4	95	0	0	0	0.000248	0	4	95				
SCN10A	6336	broad.mit.edu	37	3	38797302	38797302	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:38797302C>G	ENST00000449082.2	-	10	1437	c.1438G>C	c.(1438-1440)Gat>Cat	p.D480H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	480					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGTAAGGATCAGAGCGGGGT	0.488																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1438-1440)GAT>CAT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						267.0	223.0	238.0					3																	38797302		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38797302C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1438G>C	3.37:g.38797302C>G	ENSP00000390600:p.Asp480His						p.D480H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	10	1438	-			480					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1438G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	8.899	0.955835	0.18507	.	.	ENSG00000185313	ENST00000449082	D	0.95788	-3.81	5.34	5.34	0.76211	.	.	.	.	.	D	0.92116	0.7501	L	0.36672	1.1	0.30346	N	0.785236	P	0.35923	0.528	B	0.34722	0.188	D	0.90358	0.4371	9	0.51188	T	0.08	.	13.0596	0.59000	0.0:0.8381:0.1619:0.0	.	480	Q9Y5Y9	SCNAA_HUMAN	H	480	ENSP00000390600:D480H	ENSP00000390600:D480H	D	-	1	0	SCN10A	38772306	0.886000	0.30341	0.429000	0.26710	0.082000	0.17680	2.920000	0.48844	2.884000	0.98904	0.655000	0.94253	GAT		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	154	0	0	0	0.004482	0	6	154				
MYRIP	25924	broad.mit.edu	37	3	40211460	40211460	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:40211460G>T	ENST00000302541.6	+	8	1091	c.749G>T	c.(748-750)aGc>aTc	p.S250I	MYRIP_ENST00000396217.3_Missense_Mutation_p.S161I|MYRIP_ENST00000425621.1_Missense_Mutation_p.S250I|MYRIP_ENST00000539167.1_Missense_Mutation_p.S63I|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.S250I	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	250	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAACAGAAGAGCAAAAGTGAG	0.532																																							uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(748-750)AGC>ATC		myosin VIIA and Rab interacting protein							78.0	74.0	75.0					3																	40211460		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40211460G>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.749G>T	3.37:g.40211460G>T	ENSP00000301972:p.Ser250Ile					MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.S250I|MYRIP_uc010hhw.2_Missense_Mutation_p.S161I|MYRIP_uc011ayz.1_Missense_Mutation_p.S63I	p.S250I	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	8	884	+			250			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.749G>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071757	0.76301	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.56	-4.63	0.03359	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.602001	0.16100	N	0.229615	T	0.24624	0.0597	L	0.34521	1.04	0.09310	N	0.999996	P;P;P	0.47545	0.897;0.731;0.773	P;B;P	0.52386	0.697;0.347;0.478	T	0.15009	-1.0452	9	.	.	.	.	12.2169	0.54412	0.7473:0.0:0.2527:0.0	.	161;250;250	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	I	250;250;250;161;63	ENSP00000398665:S250I;ENSP00000301972:S250I;ENSP00000389323:S250I;ENSP00000379519:S161I;ENSP00000438297:S63I	.	S	+	2	0	MYRIP	40186464	0.001000	0.12720	0.008000	0.14137	0.992000	0.81027	-1.060000	0.03475	-1.127000	0.02925	0.561000	0.74099	AGC		0.532	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		15	19	1	0	2.31682e-05	0.003163	2.98321e-05	15	19				
ZNF502	91392	broad.mit.edu	37	3	44763714	44763714	+	Missense_Mutation	SNP	G	G	T	rs200626096		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:44763714G>T	ENST00000296091.4	+	4	1661	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	ZNF502_ENST00000436624.2_Missense_Mutation_p.G469W|ZNF502_ENST00000449836.1_Missense_Mutation_p.G469W	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TAAAGAATGTGGGAAAGCCTT	0.403																																							uc011baa.1		NA																	0					0						c.(1405-1407)GGG>TGG		zinc finger protein 502							75.0	77.0	76.0					3																	44763714		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763714G>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1405G>T	3.37:g.44763714G>T	ENSP00000296091:p.Gly469Trp					ZNF502_uc003cns.2_Missense_Mutation_p.G469W|ZNF502_uc011bab.1_Missense_Mutation_p.G469W|ZNF502_uc003cnt.2_Missense_Mutation_p.G469W	p.G469W	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1660	+			469			C2H2-type 12.			Missense_Mutation	SNP	ENST00000296091.4	37	c.1405G>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066517	0.55539	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.07800	3.16;3.16;3.16	4.42	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	H	0.97077	3.935	0.31109	N	0.710238	D	0.89917	1.0	D	0.85130	0.997	T	0.58923	-0.7550	9	0.72032	D	0.01	-5.7364	11.4332	0.50054	0.0902:0.0:0.9098:0.0	.	469	Q8TBZ5	ZN502_HUMAN	W	469	ENSP00000397390:G469W;ENSP00000296091:G469W;ENSP00000406469:G469W	ENSP00000296091:G469W	G	+	1	0	ZNF502	44738718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.459000	0.45023	1.223000	0.43536	0.655000	0.94253	GGG		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		15	20	1	0	1.49906e-05	0.00245	1.9584e-05	15	20				
LIMD1	8994	broad.mit.edu	37	3	45714995	45714995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:45714995G>T	ENST00000273317.4	+	6	1843	c.1822G>T	c.(1822-1824)Gag>Tag	p.E608*	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Nonsense_Mutation_p.E608*	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	608	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTTCCACCTGAGGTAAGATG	0.512																																							uc003coq.2		NA																	0				ovary(1)	1						c.(1822-1824)GAG>TAG		LIM domains containing 1							103.0	105.0	104.0					3																	45714995		2203	4300	6503	SO:0001587	stop_gained	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45714995G>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1822G>T	3.37:g.45714995G>T	ENSP00000273317:p.Glu608*						p.E608*	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	6	1871	+			608			LIM zinc-binding 3.|Necessary for nuclear localization.		Q17RQ1|Q9BQQ9|Q9NQ47	Nonsense_Mutation	SNP	ENST00000273317.4	37	c.1822G>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.806063	0.96967	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	.	.	.	X	608	.	ENSP00000273317:E608X	E	+	1	0	LIMD1	45689999	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	4.729000	0.62008	2.820000	0.97059	0.650000	0.86243	GAG		0.512	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		23	69	1	0	0.00278032	0.00278	0.00324411	23	69				
NISCH	11188	broad.mit.edu	37	3	52524743	52524743	+	Silent	SNP	C	C	A	rs377533055		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:52524743C>A	ENST00000479054.1	+	20	3708	c.3636C>A	c.(3634-3636)acC>acA	p.T1212T	NISCH_ENST00000345716.4_Silent_p.T1212T			Q9Y2I1	NISCH_HUMAN	nischarin	1212					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)	AGAAAAACACCGACTACAACA	0.532																																							uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3634-3636)ACC>ACA		nischarin							151.0	151.0	151.0					3																	52524743		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52524743C>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.3636C>A	3.37:g.52524743C>A						NISCH_uc003ded.3_Silent_p.T1212T|NISCH_uc003dee.3_Silent_p.T701T|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	p.T1212T	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)	20	3708	+			1212					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3636C>A	CCDS33767.1																																																																																				0.532	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		23	76	1	0	1.55469e-16	0.00333	2.86413e-16	23	76				
PBRM1	55193	broad.mit.edu	37	3	52649423	52649423	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:52649423T>C	ENST00000296302.7	-	15	1869	c.1868A>G	c.(1867-1869)aAa>aGa	p.K623R	PBRM1_ENST00000409767.1_Missense_Mutation_p.K638R|PBRM1_ENST00000410007.1_Missense_Mutation_p.K623R|PBRM1_ENST00000356770.4_Missense_Mutation_p.K591R|PBRM1_ENST00000337303.4_Missense_Mutation_p.K623R|PBRM1_ENST00000409114.3_Missense_Mutation_p.K638R|PBRM1_ENST00000394830.3_Missense_Mutation_p.K623R|PBRM1_ENST00000409057.1_Missense_Mutation_p.K623R			Q86U86	PB1_HUMAN	polybromo 1	623					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCCCAGCTCTTTCCTTTTCTC	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(1867-1869)AAA>AGA		polybromo 1 isoform 4							114.0	104.0	107.0					3																	52649423		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52649423T>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1868A>G	3.37:g.52649423T>C	ENSP00000296302:p.Lys623Arg					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.K623R|PBRM1_uc003der.2_Missense_Mutation_p.K591R|PBRM1_uc003det.2_Missense_Mutation_p.K638R|PBRM1_uc003deu.2_Missense_Mutation_p.K638R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.K623R|PBRM1_uc010hmk.1_Missense_Mutation_p.K623R|PBRM1_uc003dey.2_Missense_Mutation_p.K623R|PBRM1_uc003dez.1_Missense_Mutation_p.K623R|PBRM1_uc003dfb.1_Missense_Mutation_p.K536R|PBRM1_uc003dfc.2_5'UTR	p.K623R	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	1880	-			623					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1868A>G		.	.	.	.	.	.	.	.	.	.	T	16.11	3.031526	0.54790	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.69	5.69	0.88448	Bromodomain (3);	0.044727	0.85682	D	0.000000	T	0.15696	0.0378	N	0.19112	0.55	0.49915	D	0.999834	B;B;B;B;B;B;B;B;B	0.22003	0.048;0.004;0.01;0.022;0.001;0.047;0.063;0.018;0.004	B;B;B;B;B;B;B;B;B	0.19946	0.023;0.009;0.006;0.016;0.002;0.027;0.017;0.011;0.003	T	0.06935	-1.0799	10	0.27082	T	0.32	-38.2386	15.944	0.79779	0.0:0.0:0.0:1.0	.	623;623;623;623;638;638;623;591;623	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	591;623;623;623;623;623;638;638;623;582	ENSP00000349213:K591R;ENSP00000378307:K623R;ENSP00000296302:K623R;ENSP00000338302:K623R;ENSP00000386593:K623R;ENSP00000386529:K623R;ENSP00000386643:K638R;ENSP00000386601:K638R;ENSP00000387775:K623R;ENSP00000397662:K582R	ENSP00000296302:K623R	K	-	2	0	PBRM1	52624463	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.020000	0.57189	2.170000	0.68504	0.379000	0.24179	AAA		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		16	46	0	0	0	0.006122	0	16	46				
PTPRG	5793	broad.mit.edu	37	3	62118337	62118337	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:62118337A>G	ENST00000474889.1	+	6	1054	c.677A>G	c.(676-678)cAt>cGt	p.H226R	PTPRG_ENST00000295874.10_Missense_Mutation_p.H226R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	226	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGTGTCGTACATCATGGTAAG	0.438																																							uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(676-678)CAT>CGT		protein tyrosine phosphatase, receptor type, G							235.0	200.0	212.0					3																	62118337		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62118337A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.677A>G	3.37:g.62118337A>G	ENSP00000418112:p.His226Arg					PTPRG_uc003dlc.2_Missense_Mutation_p.H226R	p.H226R	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	6	1396	+			226			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.677A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	8.072	0.770381	0.15983	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66280	-0.2;-0.2	5.8	5.8	0.92144	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	0.991;1.0	P;D	0.87578	0.889;0.998	T	0.59107	-0.7516	10	0.06625	T	0.88	.	14.7317	0.69386	1.0:0.0:0.0:0.0	.	226;226	P23470-2;P23470	.;PTPRG_HUMAN	R	226	ENSP00000418112:H226R;ENSP00000295874:H226R	ENSP00000295874:H226R	H	+	2	0	PTPRG	62093377	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	6.415000	0.73328	2.227000	0.72691	0.460000	0.39030	CAT		0.438	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		35	53	0	0	0	0.006999	0	35	53				
MAGI1	9223	broad.mit.edu	37	3	65456114	65456115	+	Missense_Mutation	DNP	AA	AA	TG			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:65456114_65456115AA>TG	ENST00000497477.2	-	5	801_802	c.802_803TT>CA	c.(802-804)TTa>CAa	p.L268Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.L268Q|MAGI1_ENST00000330909.8_Missense_Mutation_p.L268Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.L268Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	268	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACAGGTGGTAATGCTGTTTCT	0.446																																							uc003dmn.2		NA																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(802-804)TTA>CAA		membrane associated guanylate kinase, WW and PDZ																																				SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65456114_65456115AA>TG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.802_803delinsTG	3.37:g.65456114_65456115delinsTG	ENSP00000424369:p.Leu268Gln					MAGI1_uc003dmm.2_Missense_Mutation_p.L268Q|MAGI1_uc003dmo.2_Missense_Mutation_p.L268Q|MAGI1_uc003dmp.2_Missense_Mutation_p.L268Q|MAGI1_uc010hny.2_Missense_Mutation_p.L153Q|MAGI1_uc003dmr.2_Missense_Mutation_p.L269Q	p.L268Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	5	1328_1329	-		Lung NSC(201;0.0016)	268			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	DNP	ENST00000497477.2	37	c.802_803TT>CA																																																																																					0.446	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		20	51	0	0	0	0.004672	0	20	51				
PROS1	5627	broad.mit.edu	37	3	93603635	93603635	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:93603635C>A	ENST00000394236.3	-	12	1745	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	PROS1_ENST00000407433.1_Missense_Mutation_p.V346F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	477					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)	TCCACAGTAACCAGGCAATGC	0.363																																							uc003drb.3		NA																	0				large_intestine(1)	1						c.(1429-1431)GTT>TTT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						119.0	112.0	114.0					3																	93603635		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.chr3:93603635C>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.1429G>T	3.37:g.93603635C>A	ENSP00000377783:p.Val477Phe					PROS1_uc010hoo.2_Missense_Mutation_p.V346F|PROS1_uc003dqz.3_Missense_Mutation_p.V346F	p.V477F	NM_000313	NP_000304	P07225	PROS_HUMAN			12	1770	-			477					A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1429G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120225	0.37436	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79845	-1.31;-1.31	3.78	1.86	0.25419	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.209153	0.39909	N	0.001222	T	0.76492	0.3995	M	0.81682	2.555	0.31328	N	0.685236	B	0.12630	0.006	B	0.12156	0.007	T	0.71852	-0.4467	10	0.62326	D	0.03	.	4.1012	0.10014	0.1595:0.5812:0.1662:0.0931	.	477	P07225	PROS_HUMAN	F	477;346	ENSP00000377783:V477F;ENSP00000385794:V346F	ENSP00000377783:V477F	V	-	1	0	PROS1	95086325	0.000000	0.05858	0.150000	0.22450	0.730000	0.41778	-0.339000	0.07832	0.233000	0.21120	0.561000	0.74099	GTT		0.363	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		16	41	1	0	1.5739e-10	0.004007	2.54668e-10	16	41				
EPHA6	285220	broad.mit.edu	37	3	97454805	97454805	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:97454805G>T	ENST00000389672.5	+	16	3009	c.2971G>T	c.(2971-2973)Gct>Tct	p.A991S		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	897	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGACTTCCAGCTCCCATGGG	0.418																																							uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2971-2973)GCT>TCT		EPH receptor A6 isoform a							82.0	82.0	82.0					3																	97454805		1959	4169	6128	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454805G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2971G>T	3.37:g.97454805G>T	ENSP00000374323:p.Ala991Ser					EPHA6_uc003drt.2_Missense_Mutation_p.A383S|EPHA6_uc010hox.1_RNA	p.A991S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	3014	+			896			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2971G>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538857	0.85917	.	.	ENSG00000080224	ENST00000389672	D	0.82893	-1.66	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84174	0.5414	N	0.11673	0.155	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85703	0.1314	9	0.44086	T	0.13	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	896	Q9UF33	EPHA6_HUMAN	S	991	ENSP00000374323:A991S	ENSP00000374323:A991S	A	+	1	0	EPHA6	98937495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.881000	0.87252	2.758000	0.94735	0.655000	0.94253	GCT		0.418	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		8	37	1	0	3.86212e-05	0.008291	4.87942e-05	8	37				
OR5K3	403277	broad.mit.edu	37	3	98109831	98109831	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:98109831G>C	ENST00000383695.1	+	1	322	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTCTTGCTGAAACTACAGA	0.438																																							uc011bgw.1		NA																	0					0						c.(322-324)GAA>CAA		olfactory receptor, family 5, subfamily K,							207.0	201.0	203.0					3																	98109831		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109831G>C		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.322G>C	3.37:g.98109831G>C	ENSP00000373194:p.Glu108Gln						p.E108Q	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	322	+			108			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.322G>C	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847160	0.71603	.	.	ENSG00000206536	ENST00000383695	T	0.00463	7.25	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000294	T	0.00967	0.0032	L	0.55990	1.75	0.28037	N	0.933912	D	0.64830	0.994	P	0.58331	0.837	T	0.55173	-0.8182	10	0.52906	T	0.07	-42.352	16.4659	0.84079	0.0:0.0:1.0:0.0	.	108	A6NET4	OR5K3_HUMAN	Q	108	ENSP00000373194:E108Q	ENSP00000373194:E108Q	E	+	1	0	OR5K3	99592521	0.152000	0.22762	1.000000	0.80357	0.935000	0.57460	2.963000	0.49184	2.527000	0.85204	0.603000	0.83216	GAA		0.438	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			44	154	0	0	0	0.002852	0	44	154				
GPR128	84873	broad.mit.edu	37	3	100356151	100356151	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:100356151G>A	ENST00000273352.3	+	6	871	c.603G>A	c.(601-603)aaG>aaA	p.K201K	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	201					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGGCAAAGAAAGTTGCCA	0.393																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(601-603)AAG>AAA		G protein-coupled receptor 128 precursor							128.0	111.0	117.0					3																	100356151		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100356151G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.603G>A	3.37:g.100356151G>A						GPR128_uc011bhc.1_5'UTR	p.K201K	NM_032787	NP_116176	Q96K78	GP128_HUMAN			6	871	+			201			Extracellular (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.603G>A	CCDS2938.1																																																																																				0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			3	37	0	0	0	0.000602	0	3	37				
GPR128	84873	broad.mit.edu	37	3	100374023	100374023	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:100374023G>T	ENST00000273352.3	+	12	1992	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.W280L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	575					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTAATTGGATGGGGTAAGTGT	0.408																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	0				ovary(3)|skin(1)	4						c.(1723-1725)TGG>TTG		G protein-coupled receptor 128 precursor							58.0	58.0	58.0					3																	100374023		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100374023G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1724G>T	3.37:g.100374023G>T	ENSP00000273352:p.Trp575Leu					GPR128_uc011bhc.1_Missense_Mutation_p.W276L|GPR128_uc003dud.2_Missense_Mutation_p.W98L	p.W575L	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1992	+			575			Helical; Name=4; (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1724G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307801	0.81247	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.62105	0.05;0.05	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000010	D	0.85733	0.5765	H	0.95917	3.74	0.50813	D	0.999897	D;D	0.89917	0.995;1.0	D;D	0.77004	0.97;0.989	D	0.89692	0.3898	10	0.72032	D	0.01	.	16.5923	0.84769	0.0:0.0:1.0:0.0	.	280;575	E9PHI0;Q96K78	.;GP128_HUMAN	L	575;280	ENSP00000273352:W575L;ENSP00000419788:W280L	ENSP00000273352:W575L	W	+	2	0	GPR128	101856713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.499000	0.60380	2.690000	0.91761	0.591000	0.81541	TGG		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			15	61	1	0	3.35478e-16	0.003163	6.13823e-16	15	61				
TRAT1	50852	broad.mit.edu	37	3	108568088	108568088	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:108568088C>A	ENST00000295756.6	+	5	520	c.290C>A	c.(289-291)aCc>aAc	p.T97N	TRAT1_ENST00000426646.1_Missense_Mutation_p.T60N	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	97					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAGGAAGCCACCCCATCTGCA	0.373																																							uc003dxi.1		NA																	0				skin(1)	1						c.(289-291)ACC>AAC		T-cell receptor interacting molecule							85.0	81.0	82.0					3																	108568088		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568088C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.290C>A	3.37:g.108568088C>A	ENSP00000295756:p.Thr97Asn					TRAT1_uc010hpx.1_Missense_Mutation_p.T60N	p.T97N	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	434	+			97			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.290C>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	4.014	-0.000006	0.07819	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.43688	1.32;0.94	4.55	-2.61	0.06171	.	2.718650	0.01156	N	0.006529	T	0.29556	0.0737	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.12167	-1.0558	10	0.42905	T	0.14	-0.611	1.2508	0.01982	0.417:0.271:0.1365:0.1754	.	60;97	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	N	97;60	ENSP00000295756:T97N;ENSP00000410097:T60N	ENSP00000295756:T97N	T	+	2	0	TRAT1	110050778	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.413000	0.07123	-0.282000	0.09128	-0.312000	0.09012	ACC		0.373	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		14	48	1	0	0.000308642	0.003163	0.000372422	14	48				
MORC1	27136	broad.mit.edu	37	3	108723721	108723721	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:108723721A>T	ENST00000483760.1	-	19	2008	c.1965T>A	c.(1963-1965)gcT>gcA	p.A655A	MORC1_ENST00000232603.5_Silent_p.A676A					MORC family CW-type zinc finger 1									p.A676A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGTAATATTAGCAATCTGAC	0.353																																							uc003dxl.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|skin(3)|breast(2)	8						c.(2026-2028)GCT>GCA		MORC family CW-type zinc finger 1							143.0	160.0	154.0					3																	108723721		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108723721A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1965T>A	3.37:g.108723721A>T						MORC1_uc011bhn.1_Silent_p.A655A	p.A676A	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			20	2115	-			676						Silent	SNP	ENST00000483760.1	37	c.2028T>A																																																																																					0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			51	149	0	0	0	0.00361	0	51	149				
CCDC80	151887	broad.mit.edu	37	3	112358068	112358068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:112358068C>A	ENST00000206423.3	-	2	1638	c.685G>T	c.(685-687)Gag>Tag	p.E229*	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E229*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	229					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGCCCTTCTCCAGCTTCAGG	0.577																																							uc003dzf.2		NA																	0				ovary(2)	2						c.(685-687)GAG>TAG		steroid-sensitive protein 1 precursor							123.0	117.0	119.0					3																	112358068		2203	4300	6503	SO:0001587	stop_gained	151887							g.chr3:112358068C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.685G>T	3.37:g.112358068C>A	ENSP00000206423:p.Glu229*					CCDC80_uc011bhv.1_Nonsense_Mutation_p.E229*|CCDC80_uc003dzg.2_Nonsense_Mutation_p.E229*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.E229*	p.E229*	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	903	-			229					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	c.685G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	46	12.360321	0.99660	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-34.8124	19.2065	0.93732	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000206423:E229X	E	-	1	0	CCDC80	113840758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.540000	0.85666	0.555000	0.69702	GAG		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		38	107	1	0	3.93418e-24	0.004289	7.69084e-24	38	107				
HCLS1	3059	broad.mit.edu	37	3	121376180	121376180	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:121376180T>C	ENST00000314583.3	-	3	195	c.104A>G	c.(103-105)gAg>gGg	p.E35G	HCLS1_ENST00000428394.2_Missense_Mutation_p.E35G|RNU4-62P_ENST00000410125.1_RNA	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	35	Involved in HAX-1 binding.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCATCGTTGCTCCTTTTCAGA	0.517																																							uc003eeh.3		NA																	0					0						c.(103-105)GAG>GGG		hematopoietic cell-specific Lyn substrate 1							213.0	183.0	193.0					3																	121376180		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121376180T>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.104A>G	3.37:g.121376180T>C	ENSP00000320176:p.Glu35Gly					HCLS1_uc011bjj.1_Missense_Mutation_p.E35G|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Missense_Mutation_p.E35G	p.E35G	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	3	229	-			35			Involved in HAX-1 binding.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.104A>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762069	0.69763	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.26373	1.74;1.77	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.91354	3.2	0.58432	D	0.999999	P;D;B	0.76494	0.598;0.999;0.087	B;D;B	0.80764	0.26;0.994;0.069	T	0.67971	-0.5532	10	0.87932	D	0	-24.3857	12.9204	0.58228	0.0:0.0:0.0:1.0	.	35;35;35	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	G	35	ENSP00000320176:E35G;ENSP00000387645:E35G	ENSP00000320176:E35G	E	-	2	0	HCLS1	122858870	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.591000	0.74090	2.150000	0.67090	0.533000	0.62120	GAG		0.517	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		36	135	0	0	0	0.004878	0	36	135				
GOLGB1	2804	broad.mit.edu	37	3	121433816	121433816	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:121433816G>C	ENST00000340645.5	-	10	1406	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	GOLGB1_ENST00000393667.3_Silent_p.L432L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	427					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTTTTGCTGGAGCTGATCTA	0.318																																							uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(1279-1281)CTC>CTG		golgi autoantigen, golgin subfamily b,							113.0	114.0	113.0					3																	121433816		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121433816G>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1281C>G	3.37:g.121433816G>C						GOLGB1_uc010hrc.2_Silent_p.L432L|GOLGB1_uc003eej.3_Silent_p.L393L|GOLGB1_uc011bjm.1_Silent_p.L313L|GOLGB1_uc010hrd.1_Silent_p.L391L	p.L427L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	10	1407	-			427			Potential.|Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1281C>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173223	0.09391	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.05	2.33	0.28932	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44877	-0.9299	4	.	.	.	.	7.0016	0.24813	0.2802:0.0:0.7198:0.0	.	.	.	.	C	298	.	.	S	-	2	0	GOLGB1	122916506	1.000000	0.71417	0.997000	0.53966	0.730000	0.41778	0.612000	0.24283	0.317000	0.23160	-0.216000	0.12614	TCC		0.318	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		12	72	0	0	0	0.000978	0	12	72				
DIRC2	84925	broad.mit.edu	37	3	122591347	122591347	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:122591347C>G	ENST00000261038.5	+	8	1622	c.1224C>G	c.(1222-1224)gtC>gtG	p.V408V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	408					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGAAACTGTCTACCCAGTTC	0.348																																							uc003efw.3		NA																	0					0						c.(1222-1224)GTC>GTG		disrupted in renal carcinoma 2							174.0	178.0	176.0					3																	122591347		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122591347C>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1224C>G	3.37:g.122591347C>G						DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.V246V	p.V408V	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	8	1363	+			408					A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.1224C>G	CCDS3018.1																																																																																				0.348	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		33	136	0	0	0	0.002445	0	33	136				
PDIA5	10954	broad.mit.edu	37	3	122873846	122873846	+	Silent	SNP	G	G	T	rs372392172		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:122873846G>T	ENST00000316218.7	+	15	1397	c.1302G>T	c.(1300-1302)ccG>ccT	p.P434P	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	434	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGTCATTCCGCACTTTACTG	0.532																																							uc003egc.1		NA																	0				ovary(1)	1						c.(1300-1302)CCG>CCT		protein disulfide isomerase A5 precursor							217.0	183.0	195.0					3																	122873846		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122873846G>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1302G>T	3.37:g.122873846G>T						PDIA5_uc003egd.1_RNA	p.P434P	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	15	1358	+			434			Thioredoxin 3.		D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.1302G>T	CCDS3020.1																																																																																				0.532	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		31	83	1	0	1.74807e-11	0.002096	2.90552e-11	31	83				
COL6A5	256076	broad.mit.edu	37	3	130095164	130095164	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:130095164C>A	ENST00000432398.2	+	3	646	c.152C>A	c.(151-153)aCg>aAg	p.T51K	COL6A5_ENST00000265379.6_Missense_Mutation_p.T51K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	51	Nonhelical region.|VWFA 1. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGTGAAAACGTTCATCAAC	0.478																																							uc010htj.1		NA																	0					0						c.(151-153)ACG>AAG		collagen, type XXIX, alpha 1							117.0	95.0	102.0					3																	130095164		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095164C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.152C>A	3.37:g.130095164C>A	ENSP00000390895:p.Thr51Lys					COL29A1_uc010hti.1_RNA	p.T51K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			3	646	+			51			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.152C>A		.	.	.	.	.	.	.	.	.	.	C	6.398	0.441625	0.12164	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82433	-1.61;-1.61	5.14	3.31	0.37934	.	.	.	.	.	T	0.73636	0.3612	L	0.41492	1.28	0.09310	N	1	B	0.28667	0.219	B	0.33521	0.165	T	0.58967	-0.7542	9	0.18710	T	0.47	.	4.9108	0.13821	0.1546:0.6138:0.1496:0.082	.	51	A8TX70-2	.	K	51	ENSP00000390895:T51K;ENSP00000265379:T51K	ENSP00000265379:T51K	T	+	2	0	COL6A5	131577854	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	0.126000	0.15769	1.287000	0.44583	0.557000	0.71058	ACG		0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		21	67	1	0	1.00905e-13	0.001216	1.76682e-13	21	67				
C3orf36	80111	broad.mit.edu	37	3	133647523	133647523	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:133647523C>T	ENST00000408895.2	-	1	1133	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	42										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGCCATTCCTCCAGGCCCTGA	0.622																																							uc003epz.1		NA																	0				ovary(1)	1						c.(124-126)GGA>GAA		hypothetical protein LOC80111							43.0	45.0	44.0					3																	133647523		2203	4300	6503	SO:0001583	missense	80111							g.chr3:133647523C>T	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.125G>A	3.37:g.133647523C>T	ENSP00000386219:p.Gly42Glu						p.G42E	NM_025041	NP_079317	Q3SXR2	CC036_HUMAN			1	1134	-			42					Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	c.125G>A	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526234	0.13066	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	0.21	0.15231	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19484	-1.0304	8	0.87932	D	0	.	6.9114	0.24336	0.0:0.7095:0.0:0.2905	.	42	Q3SXR2	CC036_HUMAN	E	42	.	ENSP00000386219:G42E	G	-	2	0	C3orf36	135130213	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.342000	0.07801	-0.244000	0.09639	-1.786000	0.00637	GGA		0.622	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		15	38	0	0	0	0.003163	0	15	38				
EPHB1	2047	broad.mit.edu	37	3	134851709	134851709	+	Missense_Mutation	SNP	G	G	T	rs373296912		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:134851709G>T	ENST00000398015.3	+	5	1485	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R372L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCTGCTCCCGCTGTGACGAC	0.617																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1114-1116)CGC>CTC		ephrin receptor EphB1 precursor							40.0	46.0	44.0					3																	134851709		2195	4295	6490	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851709G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1115G>T	3.37:g.134851709G>T	ENSP00000381097:p.Arg372Leu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.R372L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1335	+			372			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1115G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678961	0.88542	.	.	ENSG00000154928	ENST00000398015	T	0.74106	-0.81	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.128026	0.53938	D	0.000051	T	0.76004	0.3927	M	0.67569	2.06	0.80722	D	1	P	0.38565	0.637	B	0.38712	0.28	T	0.78043	-0.2358	10	0.54805	T	0.06	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	372	P54762	EPHB1_HUMAN	L	372	ENSP00000381097:R372L	ENSP00000381097:R372L	R	+	2	0	EPHB1	136334399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.590000	0.87494	0.655000	0.94253	CGC		0.617	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		7	22	1	0	0.00448238	0.004482	0.00518058	7	22				
EPHB1	2047	broad.mit.edu	37	3	134885845	134885845	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:134885845C>A	ENST00000398015.3	+	9	2126	c.1756C>A	c.(1756-1758)Cga>Aga	p.R586R	EPHB1_ENST00000493838.1_Silent_p.R147R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	586					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCACAGGCCGAGGTAAGTA	0.547																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1756-1758)CGA>AGA		ephrin receptor EphB1 precursor							154.0	160.0	158.0					3																	134885845		1907	4124	6031	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885845C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1756C>A	3.37:g.134885845C>A						EPHB1_uc003equ.2_Silent_p.R147R	p.R586R	NM_004441	NP_004432	P54762	EPHB1_HUMAN			9	1976	+			586			Cytoplasmic (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1756C>A	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		22	179	1	0	4.16121e-05	0.00278	5.25236e-05	22	179				
SLC25A36	55186	broad.mit.edu	37	3	140689777	140689777	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:140689777G>C	ENST00000324194.6	+	5	562	c.394G>C	c.(394-396)Gca>Cca	p.A132P	SLC25A36_ENST00000446041.2_Missense_Mutation_p.A132P|SLC25A36_ENST00000453248.2_Missense_Mutation_p.A106P|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	132					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGGTTTTACTGCAATCACAGC	0.294																																							uc003etr.2		NA																	0					0						c.(394-396)GCA>CCA		solute carrier family 25, member 36 isoform a							76.0	76.0	76.0					3																	140689777		2203	4299	6502	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140689777G>C	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.394G>C	3.37:g.140689777G>C	ENSP00000320688:p.Ala132Pro					SLC25A36_uc003ets.2_Missense_Mutation_p.A132P|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.A106P	p.A132P	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			5	629	+			132			Solcar 2.		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.394G>C	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238016	0.79800	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248;ENST00000513887	D;D;D;T	0.81739	-1.53;-1.53;-1.53;-1.41	5.66	4.77	0.60923	Mitochondrial carrier domain (2);	0.049528	0.85682	D	0.000000	D	0.92864	0.7730	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	0.992;0.98;1.0	D;D;D	0.91635	0.962;0.937;0.999	D	0.94848	0.8011	10	0.87932	D	0	-12.8967	13.9147	0.63890	0.0:0.0:0.8467:0.1533	.	106;132;132	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	P	132;132;106;56	ENSP00000401938:A132P;ENSP00000320688:A132P;ENSP00000391521:A106P;ENSP00000422265:A56P	ENSP00000320688:A132P	A	+	1	0	SLC25A36	142172467	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	7.920000	0.87521	1.476000	0.48215	0.655000	0.94253	GCA		0.294	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		11	37	0	0	0	0.001368	0	11	37				
PXYLP1	92370	broad.mit.edu	37	3	140997196	140997196	+	Missense_Mutation	SNP	C	C	T	rs369623029		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:140997196C>T	ENST00000286353.4	+	3	229	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000393010.2_Missense_Mutation_p.P31L|ACPL2_ENST00000504264.1_Missense_Mutation_p.P14L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.P15L|ACPL2_ENST00000508812.1_Missense_Mutation_p.P22L	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		31						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CACCTGATCCCGGTGTCGACT	0.567																																							uc003etu.2		NA																	0				skin(1)	1						c.(91-93)CCG>CTG		acid phosphatase-like 2 precursor		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	74.0	70.0	72.0		92,92	5.0	0.9	3		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/481,31/481	140997196	1,13005	2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:140997196C>T																												ENST00000286353.4:c.92C>T	3.37:g.140997196C>T	ENSP00000286353:p.Pro31Leu					ACPL2_uc003etv.2_Missense_Mutation_p.P31L|ACPL2_uc011bna.1_5'UTR|ACPL2_uc011bnb.1_Missense_Mutation_p.P14L	p.P31L	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			5	391	+			31					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.92C>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894751	0.52121	0.0	1.16E-4	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000393010;ENST00000514680;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T	0.20598	2.06;2.06;2.13;2.14;2.15	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.69823	2.125	0.48395	D	0.999641	D;D	0.89917	0.999;1.0	P;D	0.87578	0.734;0.998	T	0.39333	-0.9619	10	0.87932	D	0	.	9.8696	0.41166	0.1577:0.6903:0.152:0.0	.	14;31	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	L	31;31;31;31;14;22;15	ENSP00000286353:P31L;ENSP00000376733:P31L;ENSP00000426877:P14L;ENSP00000422901:P22L;ENSP00000376731:P15L	ENSP00000286353:P31L	P	+	2	0	ACPL2	142479886	0.989000	0.36119	0.879000	0.34478	0.015000	0.08874	4.111000	0.57838	1.479000	0.48272	-0.175000	0.13238	CCG		0.567	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			10	36	0	0	0	0.006214	0	10	36				
ZBTB38	253461	broad.mit.edu	37	3	141164114	141164114	+	Missense_Mutation	SNP	G	G	T	rs75545796	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:141164114G>T	ENST00000514251.1	+	4	3163	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.V962L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.V963L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGATTGCGCCGTGGGGAAGGC	0.498																																							uc003etw.2		NA																	0				ovary(3)	3						c.(2884-2886)GTG>TTG		zinc finger and BTB domain containing 38							33.0	34.0	33.0					3																	141164114		1885	4120	6005	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164114G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2884G>T	3.37:g.141164114G>T	ENSP00000426387:p.Val962Leu					ZBTB38_uc010hun.2_Missense_Mutation_p.V959L|ZBTB38_uc010huo.2_Missense_Mutation_p.V962L|ZBTB38_uc003ety.2_Missense_Mutation_p.V962L|ZBTB38_uc010hup.2_Missense_Mutation_p.V963L	p.V962L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3866	+			962						Missense_Mutation	SNP	ENST00000514251.1	37	c.2884G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.327626	0.00229	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.07688	3.17;3.17;3.18	5.48	2.48	0.30137	.	0.568118	0.15884	N	0.239910	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42616	-0.9441	9	.	.	.	-4.559	2.7306	0.05226	0.1707:0.2217:0.4897:0.118	.	963;962	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	962;962;963	ENSP00000426387:V962L;ENSP00000406955:V962L;ENSP00000372635:V963L	.	V	+	1	0	ZBTB38	142646804	0.063000	0.20901	0.059000	0.19551	0.155000	0.21991	0.791000	0.26915	1.315000	0.45114	0.650000	0.86243	GTG		0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			8	27	1	0	3.09899e-07	0.004482	4.40883e-07	8	27				
XRN1	54464	broad.mit.edu	37	3	142139947	142139947	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142139947C>G	ENST00000264951.4	-	10	1201	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	XRN1_ENST00000544157.1_Missense_Mutation_p.E152Q|XRN1_ENST00000463916.1_Missense_Mutation_p.E362Q|XRN1_ENST00000392981.2_Missense_Mutation_p.E362Q|RNU1-100P_ENST00000365255.1_RNA	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	362					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTTTGCTTTCAAACCATTTT	0.338																																							uc003eus.2		NA																	0				ovary(3)	3						c.(1084-1086)GAA>CAA		5'-3' exoribonuclease 1 isoform a							113.0	118.0	117.0					3																	142139947		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142139947C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1084G>C	3.37:g.142139947C>G	ENSP00000264951:p.Glu362Gln					XRN1_uc003eut.2_Missense_Mutation_p.E362Q|XRN1_uc003euu.2_Missense_Mutation_p.E362Q|XRN1_uc003euv.1_Missense_Mutation_p.E223Q|XRN1_uc003euw.2_Missense_Mutation_p.E362Q|XRN1_uc011bnh.1_Missense_Mutation_p.E152Q	p.E362Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			10	1151	-			362					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1084G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961182	0.92791	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.33438	1.41;1.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	L	0.52364	1.645	0.80722	D	1	D;D;B;B;B	0.71674	0.998;0.992;0.427;0.357;0.243	D;D;B;B;B	0.70487	0.969;0.933;0.258;0.316;0.168	T	0.35251	-0.9796	10	0.36615	T	0.2	-25.3564	19.2878	0.94085	0.0:1.0:0.0:0.0	.	152;362;223;362;362	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	Q	362;362;362;152	ENSP00000264951:E362Q;ENSP00000376707:E362Q	ENSP00000264951:E362Q	E	-	1	0	XRN1	143622637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.608000	0.88229	0.585000	0.79938	GAA		0.338	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	131	0	0	0	0.001168	0	5	131				
CHST2	9435	broad.mit.edu	37	3	142841199	142841199	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142841199C>A	ENST00000309575.3	+	2	2925	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	514					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTCAACAGCCCTGAGGAGGTC	0.572																																							uc003evm.2		NA																	0				ovary(3)	3						c.(1540-1542)CCT>CAT		carbohydrate (N-acetylglucosamine-6-O)							32.0	33.0	33.0					3																	142841199		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841199C>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1541C>A	3.37:g.142841199C>A	ENSP00000307911:p.Pro514His						p.P514H	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2430	+			514			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1541C>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641590	0.47153	.	.	ENSG00000175040	ENST00000309575	D	0.96104	-3.91	4.74	4.74	0.60224	.	0.243763	0.35207	N	0.003380	D	0.91195	0.7226	N	0.22421	0.69	0.37228	D	0.905538	P	0.45902	0.868	B	0.42827	0.399	D	0.92418	0.5943	10	0.42905	T	0.14	-11.9085	12.9584	0.58442	0.1618:0.8382:0.0:0.0	.	514	Q9Y4C5	CHST2_HUMAN	H	514	ENSP00000307911:P514H	ENSP00000307911:P514H	P	+	2	0	CHST2	144323889	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	5.431000	0.66507	2.443000	0.82685	0.609000	0.83330	CCT		0.572	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		10	32	1	0	0.000442599	0.006214	0.000529778	10	32				
SLC9A9	285195	broad.mit.edu	37	3	142985603	142985603	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142985603C>A	ENST00000316549.6	-	16	2087	c.1879G>T	c.(1879-1881)Ggc>Tgc	p.G627C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G627C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTCCCAGGCCGAGGTCTCCC	0.498																																							uc003evn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1879-1881)GGC>TGC		solute carrier family 9 (sodium/hydrogen							127.0	119.0	122.0					3																	142985603		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985603C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1879G>T	3.37:g.142985603C>A	ENSP00000320246:p.Gly627Cys						p.G627C	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	2061	-			627					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1879G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468089	0.84533	.	.	ENSG00000181804	ENST00000316549	T	0.59638	0.25	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	M	0.71581	2.175	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78160	-0.2312	10	0.72032	D	0.01	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	627	Q8IVB4	SL9A9_HUMAN	C	627	ENSP00000320246:G627C	ENSP00000320246:G627C	G	-	1	0	SLC9A9	144468293	0.999000	0.42202	0.966000	0.40874	0.991000	0.79684	5.317000	0.65822	2.679000	0.91253	0.650000	0.86243	GGC		0.498	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		23	82	1	0	9.95505e-16	0.002299	1.79458e-15	23	82				
ERICH6	131831	broad.mit.edu	37	3	150384672	150384672	+	Missense_Mutation	SNP	G	G	T	rs373184930		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:150384672G>T	ENST00000295910.6	-	13	1682	c.1630C>A	c.(1630-1632)Cgt>Agt	p.R544S	FAM194A_ENST00000491361.1_Missense_Mutation_p.R398S	NM_152394.3	NP_689607.2												p.R544S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAATATAACGGTTCAAAGCC	0.413																																							uc003eyg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1630-1632)CGT>AGT		hypothetical protein LOC131831							129.0	125.0	126.0					3																	150384672		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150384672G>T																												ENST00000295910.6:c.1630C>A	3.37:g.150384672G>T	ENSP00000295910:p.Arg544Ser					FAM194A_uc003eyh.2_Missense_Mutation_p.R398S	p.R544S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			13	1687	-			544						Missense_Mutation	SNP	ENST00000295910.6	37	c.1630C>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955525	0.34471	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.11821	2.74;2.74	5.41	3.33	0.38152	.	0.894418	0.09712	N	0.765534	T	0.10766	0.0263	L	0.31926	0.97	0.26621	N	0.972644	P	0.37573	0.6	B	0.33690	0.168	T	0.18967	-1.0320	10	0.33141	T	0.24	-2.3232	9.7423	0.40427	0.0907:0.0:0.7615:0.1477	.	544	Q7L0X2	F194A_HUMAN	S	544;398;502	ENSP00000295910:R544S;ENSP00000419366:R398S	ENSP00000295910:R544S	R	-	1	0	FAM194A	151867362	0.970000	0.33590	0.828000	0.32881	0.990000	0.78478	1.614000	0.36911	1.206000	0.43276	0.655000	0.94253	CGT		0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			23	64	1	0	5.35356e-11	0.00278	8.74675e-11	23	64				
P2RY14	9934	broad.mit.edu	37	3	150931206	150931206	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:150931206T>A	ENST00000309170.3	-	3	1211	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	P2RY14_ENST00000424796.2_Missense_Mutation_p.Q300L|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTAAACGGCTGGCATAGAAA	0.358																																							uc003eyr.1		NA																	0				large_intestine(2)|ovary(1)|lung(1)	4						c.(898-900)CAG>CTG		P2Y14 receptor							100.0	104.0	102.0					3																	150931206		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931206T>A	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.899A>T	3.37:g.150931206T>A	ENSP00000308361:p.Gln300Leu					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.Q300L	p.Q300L	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1377	-			300			Cytoplasmic (Potential).		Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.899A>T	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259967	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.25579	1.79;1.79	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000010	T	0.14787	0.0357	N	0.08118	0	0.34840	D	0.740585	B	0.14805	0.011	B	0.17098	0.017	T	0.11372	-1.0590	10	0.59425	D	0.04	-7.7391	11.6903	0.51512	0.1322:0.0:0.0:0.8678	.	300	Q15391	P2Y14_HUMAN	L	300	ENSP00000308361:Q300L;ENSP00000408733:Q300L	ENSP00000308361:Q300L	Q	-	2	0	P2RY14	152413896	0.070000	0.21116	1.000000	0.80357	0.996000	0.88848	0.812000	0.27211	2.033000	0.60031	0.528000	0.53228	CAG		0.358	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		27	81	0	0	0	0.007291	0	27	81				
SHOX2	6474	broad.mit.edu	37	3	157823666	157823666	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:157823666C>T	ENST00000425436.3	-	1	173	c.148G>A	c.(148-150)Gac>Aac	p.D50N	SHOX2_ENST00000389589.4_Missense_Mutation_p.D50N|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D50N|SHOX2_ENST00000554685.1_5'UTR|RSRC1_ENST00000480820.1_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	50					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGCTGCGGTCGTCGCGGCCC	0.766																																							uc003fbr.2		NA																	0					0						c.(148-150)GAC>AAC		short stature homeobox 2 isoform a							5.0	5.0	5.0					3																	157823666		1638	3713	5351	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157823666C>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.148G>A	3.37:g.157823666C>T	ENSP00000398704:p.Asp50Asn					SHOX2_uc003fbs.2_Missense_Mutation_p.D50N|SHOX2_uc010hvw.2_Missense_Mutation_p.D50N	p.D50N	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	287	-			50					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.148G>A	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417442	0.83449	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.94232	-3.38;-3.07;-3.13	3.9	3.9	0.45041	.	0.315377	0.21938	N	0.066928	D	0.86948	0.6056	N	0.19112	0.55	0.80722	D	1	P;P;P	0.51791	0.938;0.948;0.931	B;B;B	0.39503	0.23;0.301;0.165	D	0.88202	0.2884	10	0.48119	T	0.1	.	15.0468	0.71833	0.0:1.0:0.0:0.0	.	50;50;50	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	50	ENSP00000398704:D50N;ENSP00000374240:D50N;ENSP00000419362:D50N	ENSP00000374240:D50N	D	-	1	0	SHOX2;AC112502.1	159306360	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.244000	0.58728	1.892000	0.54788	0.462000	0.41574	GAC		0.766	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			3	7	0	0	0	0.004672	0	3	7				
SI	6476	broad.mit.edu	37	3	164724727	164724727	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164724727G>T	ENST00000264382.3	-	37	4345	c.4283C>A	c.(4282-4284)aCt>aAt	p.T1428N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1428	Sucrase.				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)			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)	TAATCCATCAGTTCTTTTTGT	0.333										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4282-4284)ACT>AAT		sucrase-isomaltase	Acarbose(DB00284)						70.0	65.0	67.0					3																	164724727		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.chr3:164724727G>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.4283C>A	3.37:g.164724727G>T	ENSP00000264382:p.Thr1428Asn	HNSCC(35;0.089)					p.T1428N	NM_001041	NP_001032	P14410	SUIS_HUMAN			37	4345	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1428			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4283C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464413	0.01053	.	.	ENSG00000090402	ENST00000264382	D	0.88741	-2.42	4.26	-4.52	0.03472	Glycoside hydrolase, superfamily (1);	1.805090	0.02451	N	0.085579	T	0.72510	0.3469	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64875	-0.6304	10	0.13470	T	0.59	.	5.0326	0.14417	0.0782:0.1874:0.1376:0.5968	.	1428	P14410	SUIS_HUMAN	N	1428	ENSP00000264382:T1428N	ENSP00000264382:T1428N	T	-	2	0	SI	166207421	0.000000	0.05858	0.003000	0.11579	0.098000	0.18820	-1.083000	0.03397	-0.622000	0.05626	-0.516000	0.04426	ACT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		11	18	1	0	5.50884e-06	0.001368	7.37624e-06	11	18				
SI	6476	broad.mit.edu	37	3	164737505	164737505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164737505G>T	ENST00000264382.3	-	28	3370	c.3308C>A	c.(3307-3309)tCg>tAg	p.S1103*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1103	Sucrase.				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)			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)	CAGGCGAGTCGATATTTGAAT	0.378										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3307-3309)TCG>TAG		sucrase-isomaltase	Acarbose(DB00284)						88.0	87.0	87.0					3																	164737505		2203	4299	6502	SO:0001587	stop_gained	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.chr3:164737505G>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.3308C>A	3.37:g.164737505G>T	ENSP00000264382:p.Ser1103*	HNSCC(35;0.089)					p.S1103*	NM_001041	NP_001032	P14410	SUIS_HUMAN			28	3370	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1103			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.3308C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	40	8.309212	0.98754	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.305	0.87192	0.0:0.0:1.0:0.0	.	.	.	.	X	1103	.	ENSP00000264382:S1103X	S	-	2	0	SI	166220199	1.000000	0.71417	0.994000	0.49952	0.474000	0.32979	8.963000	0.93385	2.293000	0.77203	0.591000	0.81541	TCG		0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		9	73	1	0	0.00621372	0.006214	0.00712032	9	73				
SI	6476	broad.mit.edu	37	3	164786549	164786549	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164786549G>T	ENST00000264382.3	-	5	506	c.444C>A	c.(442-444)ttC>ttA	p.F148L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	148	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)			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)	TTTGAGTTGTGAAGAGAACAC	0.388										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(442-444)TTC>TTA		sucrase-isomaltase	Acarbose(DB00284)						136.0	139.0	138.0					3																	164786549		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.chr3:164786549G>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.444C>A	3.37:g.164786549G>T	ENSP00000264382:p.Phe148Leu	HNSCC(35;0.089)					p.F148L	NM_001041	NP_001032	P14410	SUIS_HUMAN			5	506	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	148			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.444C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638619	0.00799	.	.	ENSG00000090402	ENST00000264382	D	0.81499	-1.5	5.67	-1.6	0.08426	Glycoside hydrolase-type carbohydrate-binding (1);	0.454659	0.26133	N	0.026157	T	0.43500	0.1250	N	0.01482	-0.84	0.21386	N	0.999701	B	0.02656	0.0	B	0.01281	0.0	T	0.49072	-0.8977	10	0.02654	T	1	.	5.6589	0.17658	0.2345:0.0:0.2636:0.5019	.	148	P14410	SUIS_HUMAN	L	148	ENSP00000264382:F148L	ENSP00000264382:F148L	F	-	3	2	SI	166269243	0.757000	0.28394	0.215000	0.23724	0.013000	0.08279	-0.138000	0.10374	-0.283000	0.09115	-0.189000	0.12847	TTC		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		22	78	1	0	6.44725e-10	0.002299	1.02469e-09	22	78				
SLITRK3	22865	broad.mit.edu	37	3	164906813	164906813	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164906813C>T	ENST00000475390.1	-	2	2249	c.1806G>A	c.(1804-1806)gtG>gtA	p.V602V	SLITRK3_ENST00000241274.3_Silent_p.V602V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	602	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAATAGTGCGCACATCACGGT	0.547										HNSCC(40;0.11)																													uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1804-1806)GTG>GTA		slit and trk like 3 protein precursor							72.0	66.0	68.0					3																	164906813		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906813C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1806G>A	3.37:g.164906813C>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.V602V	p.V602V	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2250	-			602			LRRCT 2.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1806G>A	CCDS3197.1																																																																																				0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		13	34	0	0	0	0.001368	0	13	34				
SLITRK3	22865	broad.mit.edu	37	3	164906974	164906974	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164906974C>G	ENST00000475390.1	-	2	2088	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E549Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	549					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCAAGTGTTCCAGGACACCA	0.532										HNSCC(40;0.11)																													uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1645-1647)GAA>CAA		slit and trk like 3 protein precursor							66.0	65.0	66.0					3																	164906974		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906974C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1645G>C	3.37:g.164906974C>G	ENSP00000420091:p.Glu549Gln	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.E549Q	p.E549Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2089	-			549			Extracellular (Potential).|LRR 12.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1645G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876993	0.72180	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52295	0.67;0.67	5.81	5.81	0.92471	.	0.000000	0.38605	N	0.001621	T	0.66723	0.2818	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.65467	-0.6161	10	0.66056	D	0.02	-16.913	20.0478	0.97616	0.0:1.0:0.0:0.0	.	549	O94933	SLIK3_HUMAN	Q	549	ENSP00000420091:E549Q;ENSP00000241274:E549Q	ENSP00000241274:E549Q	E	-	1	0	SLITRK3	166389668	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.906000	0.99361	0.655000	0.94253	GAA		0.532	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		13	41	0	0	0	0.00245	0	13	41				
LRRC31	79782	broad.mit.edu	37	3	169587549	169587549	+	Missense_Mutation	SNP	G	G	C	rs370492126		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:169587549G>C	ENST00000316428.5	-	1	104	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LRRC31_ENST00000523069.1_Missense_Mutation_p.P16R|LRRC31_ENST00000264676.5_Missense_Mutation_p.P16R|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	16										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGAAGTCTGGGGCTTAGTTTC	0.443																																							uc003fgc.1		NA																	0				ovary(2)|skin(1)	3						c.(46-48)CCC>CGC		leucine rich repeat containing 31							141.0	128.0	132.0					3																	169587549		1819	4084	5903	SO:0001583	missense	79782							g.chr3:169587549G>C	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.47C>G	3.37:g.169587549G>C	ENSP00000325978:p.Pro16Arg					LRRC31_uc010hwp.1_Missense_Mutation_p.P16R	p.P16R	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		1	124	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		16					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.47C>G	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438467	0.12104	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.06933	3.29;3.24;3.55	5.1	1.21	0.21127	.	1.398730	0.04946	N	0.459382	T	0.06462	0.0166	N	0.24115	0.695	0.09310	N	1	B;B	0.31859	0.343;0.232	B;B	0.29524	0.103;0.07	T	0.38265	-0.9669	10	0.72032	D	0.01	.	4.3137	0.10982	0.2778:0.1673:0.5549:0.0	.	16;16	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	R	16	ENSP00000325978:P16R;ENSP00000264676:P16R;ENSP00000429145:P16R	ENSP00000264676:P16R	P	-	2	0	LRRC31	171070243	0.158000	0.22850	0.004000	0.12327	0.289000	0.27227	0.092000	0.15066	0.037000	0.15575	0.563000	0.77884	CCC		0.443	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		9	69	0	0	0	0.006214	0	9	69				
SLC7A14	57709	broad.mit.edu	37	3	170216537	170216537	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:170216537C>A	ENST00000231706.5	-	4	993	c.678G>T	c.(676-678)gtG>gtT	p.V226V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	226					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCATGATGAACACCCATACTG	0.507																																							uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(676-678)GTG>GTT		solute carrier family 7 (cationic amino acid							126.0	109.0	115.0					3																	170216537		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216537C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.678G>T	3.37:g.170216537C>A						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.V226V	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	994	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		226			Helical; (Potential).		B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.678G>T	CCDS33892.1																																																																																				0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		17	70	1	0	3.41278e-10	0.00499	5.4499e-10	17	70				
FNDC3B	64778	broad.mit.edu	37	3	171830326	171830326	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:171830326G>T	ENST00000336824.4	+	2	156	c.57G>T	c.(55-57)ctG>ctT	p.L19L	FNDC3B_ENST00000416957.1_Silent_p.L19L|FNDC3B_ENST00000423424.1_Silent_p.L19L|FNDC3B_ENST00000415807.2_Silent_p.L19L|FNDC3B_ENST00000421757.1_Silent_p.L19L|FNDC3B_ENST00000392699.1_Silent_p.L19L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	19					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CACCATTGCTGAACGGAGAGG	0.498																																							uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(55-57)CTG>CTT		fibronectin type III domain containing 3B							161.0	138.0	146.0					3																	171830326		2203	4300	6503	SO:0001819	synonymous_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:171830326G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.57G>T	3.37:g.171830326G>T						FNDC3B_uc003fhz.3_Silent_p.L19L|FNDC3B_uc003fhx.2_RNA	p.L19L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	2	229	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		19					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	c.57G>T	CCDS3217.1																																																																																				0.498	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		20	73	1	0	8.10497e-08	0.001523	1.18444e-07	20	73				
FNDC3B	64778	broad.mit.edu	37	3	171965348	171965348	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:171965348G>T	ENST00000336824.4	+	5	389	c.290G>T	c.(289-291)cGc>cTc	p.R97L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.R97L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.R97L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	97					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACTGGAGTCCGCCGGGTGGTG	0.458																																							uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(289-291)CGC>CTC		fibronectin type III domain containing 3B							125.0	119.0	121.0					3																	171965348		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171965348G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.290G>T	3.37:g.171965348G>T	ENSP00000338523:p.Arg97Leu					FNDC3B_uc003fhz.3_Missense_Mutation_p.R97L|FNDC3B_uc003fia.2_Missense_Mutation_p.R28L	p.R97L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	5	462	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		97					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.290G>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430064	0.96131	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.992;0.996	T	0.73911	-0.3833	10	0.87932	D	0	-19.8195	20.2191	0.98319	0.0:0.0:1.0:0.0	.	97;97	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	L	97;97;97;70	ENSP00000411242:R97L;ENSP00000338523:R97L;ENSP00000389094:R97L;ENSP00000389064:R70L	ENSP00000338523:R97L	R	+	2	0	FNDC3B	173448042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.125000	0.94402	2.780000	0.95670	0.655000	0.94253	CGC		0.458	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		32	120	1	0	5.6714e-07	0.002096	7.96725e-07	32	120				
ECT2	1894	broad.mit.edu	37	3	172474909	172474909	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:172474909G>C	ENST00000392692.3	+	5	616	c.440G>C	c.(439-441)aGa>aCa	p.R147T	ECT2_ENST00000417960.1_Missense_Mutation_p.R115T|ECT2_ENST00000427830.1_Missense_Mutation_p.R116T|ECT2_ENST00000441497.2_Missense_Mutation_p.R116T|ECT2_ENST00000232458.5_Missense_Mutation_p.R116T|ECT2_ENST00000540509.1_Missense_Mutation_p.R147T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	147					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GCTGATTGTAGAGTTATTGGA	0.313																																							uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(346-348)AGA>ACA		epithelial cell transforming sequence 2 oncogene							97.0	100.0	99.0					3																	172474909		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172474909G>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.440G>C	3.37:g.172474909G>C	ENSP00000376457:p.Arg147Thr					ECT2_uc010hwv.1_Missense_Mutation_p.R147T|ECT2_uc003fih.2_Missense_Mutation_p.R115T|ECT2_uc003fij.1_Missense_Mutation_p.R116T|ECT2_uc003fik.1_Missense_Mutation_p.R116T|ECT2_uc003fil.1_Missense_Mutation_p.R147T	p.R116T	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	485	+	Ovarian(172;0.00197)|Breast(254;0.158)		116					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.347G>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965198	0.92855	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T	0.62788	2.8;2.8;2.8;2.8;2.8;0.73;-0.0;2.8;2.8	5.95	5.95	0.96441	BRCT (3);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.66939	2.045	0.80722	D	1	P;D;P;P	0.76494	0.598;0.999;0.5;0.5	B;D;P;P	0.72982	0.186;0.979;0.454;0.454	T	0.78142	-0.2319	10	0.56958	D	0.05	-20.2246	20.3719	0.98893	0.0:0.0:1.0:0.0	.	147;147;116;115	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	T	116;147;116;115;115;116;147;116;147	ENSP00000232458:R116T;ENSP00000376457:R147T;ENSP00000401910:R116T;ENSP00000415876:R115T;ENSP00000403501:R115T;ENSP00000412028:R116T;ENSP00000389108:R147T;ENSP00000412259:R116T;ENSP00000443160:R147T	ENSP00000232458:R116T	R	+	2	0	ECT2	173957603	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.651000	0.91078	2.826000	0.97356	0.491000	0.48974	AGA		0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		6	96	0	0	0	0.001984	0	6	96				
PEX5L	51555	broad.mit.edu	37	3	179605484	179605484	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:179605484C>A	ENST00000467460.1	-	4	617	c.287G>T	c.(286-288)aGg>aTg	p.R96M	PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000392649.3_Missense_Mutation_p.R53M|PEX5L_ENST00000476138.1_Missense_Mutation_p.R53M|PEX5L_ENST00000485199.1_Missense_Mutation_p.R61M|PEX5L_ENST00000263962.8_Missense_Mutation_p.R94M|PEX5L_ENST00000472994.1_Missense_Mutation_p.R37M|PEX5L_ENST00000465751.1_Missense_Mutation_p.R72M|PEX5L_ENST00000464614.1_Missense_Mutation_p.R53M|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	96					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGTTACTGGCCTTGCTATTGC	0.388																																							uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(286-288)AGG>ATG		peroxisomal biogenesis factor 5-like							215.0	215.0	215.0					3																	179605484		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605484C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.287G>T	3.37:g.179605484C>A	ENSP00000419975:p.Arg96Met					PEX5L_uc011bqd.1_Missense_Mutation_p.R53M|PEX5L_uc011bqe.1_Translation_Start_Site|PEX5L_uc011bqf.1_Missense_Mutation_p.R53M|PEX5L_uc003fkj.1_Missense_Mutation_p.R61M|PEX5L_uc010hxd.1_Missense_Mutation_p.R94M|PEX5L_uc011bqg.1_Missense_Mutation_p.R72M|PEX5L_uc011bqh.1_Missense_Mutation_p.R37M	p.R96M	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	417	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		96					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.287G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943308	0.53079	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.91351	-2.82;-2.83;-2.76;-2.79;-2.78;-2.79;-2.79;-2.79	5.82	4.94	0.65067	.	0.106561	0.64402	D	0.000005	D	0.90885	0.7136	L	0.32530	0.975	0.31837	N	0.62399	D;D;P;D;D;P	0.69078	0.997;0.986;0.651;0.977;0.97;0.95	P;P;B;P;P;P	0.58454	0.819;0.621;0.319;0.839;0.79;0.621	D	0.91990	0.5602	10	0.87932	D	0	-12.4407	13.9465	0.64089	0.0:0.9266:0.0:0.0734	.	37;72;53;94;61;96	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	M	96;94;61;94;53;53;49;37;53;72;85;120	ENSP00000419975:R96M;ENSP00000263962:R94M;ENSP00000418440:R61M;ENSP00000376420:R53M;ENSP00000420555:R53M;ENSP00000418054:R37M;ENSP00000417270:R53M;ENSP00000419348:R72M	ENSP00000263962:R94M	R	-	2	0	PEX5L	181088178	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.588000	0.67517	1.433000	0.47394	0.655000	0.94253	AGG		0.388	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		36	158	1	0	5.43694e-19	0.005524	1.03425e-18	36	158				
ECE2	9718	broad.mit.edu	37	3	184001646	184001646	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:184001646A>T	ENST00000402825.3	+	8	1244	c.1244A>T	c.(1243-1245)gAg>gTg	p.E415V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E343V|ECE2_ENST00000404464.3_Missense_Mutation_p.E297V|ECE2_ENST00000359140.4_Missense_Mutation_p.E268V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	415	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACGAGGGAGCAGATGCAG	0.607																																							uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(1243-1245)GAG>GTG		endothelin converting enzyme 2 isoform A							66.0	59.0	61.0					3																	184001646		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184001646A>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1244A>T	3.37:g.184001646A>T	ENSP00000384223:p.Glu415Val					ECE2_uc011brh.1_Missense_Mutation_p.E268V|ECE2_uc003fnl.3_Missense_Mutation_p.E343V|ECE2_uc003fnm.3_Missense_Mutation_p.E297V|ECE2_uc003fnk.3_Missense_Mutation_p.E268V|ECE2_uc011bri.1_Missense_Mutation_p.E330V|ECE2_uc010hxv.2_Missense_Mutation_p.E59V	p.E415V	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1282	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		415			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1244A>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802669	0.31869	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	4.5	1.93	0.25924	Peptidase M13 (1);	0.618315	0.16799	N	0.199082	T	0.65502	0.2697	L	0.54323	1.7	0.27830	N	0.94148	B;B;B;B;B;B;B	0.20368	0.021;0.044;0.044;0.007;0.035;0.004;0.018	B;B;B;B;B;B;B	0.25759	0.043;0.063;0.039;0.009;0.023;0.014;0.024	T	0.57312	-0.7833	10	0.45353	T	0.12	-9.4376	4.9531	0.14025	0.4195:0.3056:0.0:0.2749	.	17;268;286;297;343;268;415	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	V	415;268;297;343;289	ENSP00000384223:E415V;ENSP00000352052:E268V;ENSP00000385846:E297V;ENSP00000350066:E343V;ENSP00000398444:E289V	ENSP00000350066:E343V	E	+	2	0	ECE2	185484340	0.994000	0.37717	0.998000	0.56505	0.914000	0.54420	0.687000	0.25407	0.201000	0.20466	0.528000	0.53228	GAG		0.607	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		7	44	0	0	0	0.001984	0	7	44				
LIPH	200879	broad.mit.edu	37	3	185252583	185252583	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:185252583C>A	ENST00000296252.4	-	2	528	c.387G>T	c.(385-387)atG>atT	p.M129I	LIPH_ENST00000424591.2_Missense_Mutation_p.M129I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	129					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCTTCAAGACCATGGCTACTT	0.393																																							uc003fpm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(385-387)ATG>ATT		lipase, member H precursor							75.0	75.0	75.0					3																	185252583		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185252583C>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.387G>T	3.37:g.185252583C>A	ENSP00000296252:p.Met129Ile					LIPH_uc010hyh.2_Missense_Mutation_p.M129I	p.M129I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	497	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		129					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.387G>T	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	3.809	-0.040015	0.07497	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.90676	-2.71;-2.71	5.79	-8.81	0.00813	Lipase, N-terminal (1);	1.938690	0.02143	N	0.057334	T	0.69575	0.3126	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.65923	-0.6050	10	0.38643	T	0.18	10.9635	3.5546	0.07860	0.1775:0.3612:0.3232:0.1381	.	129;129	A2IBA6;Q8WWY8	.;LIPH_HUMAN	I	129	ENSP00000296252:M129I;ENSP00000396384:M129I	ENSP00000296252:M129I	M	-	3	0	LIPH	186735277	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.862000	0.00725	-2.050000	0.00905	-1.073000	0.02249	ATG		0.393	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			20	41	1	0	2.94398e-08	0.007413	4.37364e-08	20	41				
SENP2	59343	broad.mit.edu	37	3	185307917	185307917	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:185307917A>G	ENST00000296257.5	+	2	357	c.117A>G	c.(115-117)acA>acG	p.T39T	SENP2_ENST00000545472.1_Silent_p.T29T|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	39				T -> TA (in Ref. 1; AAG15309). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGTTTTCTACAGTGGACACTG	0.259																																							uc003fpn.2		NA																	0					0						c.(115-117)ACA>ACG		SUMO1/sentrin/SMT3 specific protease 2							22.0	24.0	23.0					3																	185307917		2070	4228	6298	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185307917A>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.117A>G	3.37:g.185307917A>G						SENP2_uc011brv.1_Silent_p.T29T|SENP2_uc011brw.1_5'UTR	p.T39T	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	288	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		39	T -> TA (in Ref. 1; AAG15309).				B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.117A>G	CCDS33902.1																																																																																				0.259	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		13	26	0	0	0	0.00245	0	13	26				
AHSG	197	broad.mit.edu	37	3	186335114	186335114	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:186335114A>T	ENST00000273784.5	+	4	627	c.551A>T	c.(550-552)gAg>gTg	p.E184V	AHSG_ENST00000411641.2_Missense_Mutation_p.E183V	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	183	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TTTCAGCTGGAGGAAATTTCC	0.587											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fqk.3		NA																	0					0						c.(547-549)GAG>GTG		alpha-2-HS-glycoprotein							68.0	69.0	68.0					3																	186335114		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186335114A>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.551A>T	3.37:g.186335114A>T	ENSP00000273784:p.Glu184Val		OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2006	AHSG_uc003fqj.2_Missense_Mutation_p.E183V|AHSG_uc003fql.3_Missense_Mutation_p.E184V|AHSG_uc003fqm.3_Missense_Mutation_p.E182V|AHSG_uc010hyp.2_Missense_Mutation_p.E146V	p.E183V	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	4	629	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		183			Cystatin fetuin-A-type 2.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.548A>T		.	.	.	.	.	.	.	.	.	.	a	2.954	-0.216145	0.06101	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.23754	1.89;1.89	5.61	3.17	0.36434	Proteinase inhibitor I25, cystatin (2);	0.410165	0.23254	N	0.050210	T	0.06280	0.0162	N	0.00517	-1.405	0.22531	N	0.999019	B;B;B;B	0.12013	0.004;0.002;0.003;0.005	B;B;B;B	0.15484	0.01;0.01;0.01;0.013	T	0.38499	-0.9658	10	0.09843	T	0.71	-2.9716	8.4982	0.33141	0.3249:0.0:0.0:0.6751	.	249;183;184;183	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	V	183;249;184	ENSP00000393887:E183V;ENSP00000273784:E184V	ENSP00000273784:E184V	E	+	2	0	AHSG	187817808	0.990000	0.36364	0.603000	0.28903	0.417000	0.31264	2.387000	0.44389	0.473000	0.27368	-0.527000	0.04329	GAG		0.587	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		22	77	0	0	0	0.002299	0	22	77				
MB21D2	151963	broad.mit.edu	37	3	192517414	192517414	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:192517414C>A	ENST00000392452.2	-	2	557	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	79							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CCACTGGAAGCTTTTGGTCCA	0.448																																							uc011bsp.1		NA																	0					0						c.(235-237)AAG>AAT		hypothetical protein LOC151963							38.0	36.0	36.0					3																	192517414		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517414C>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.237G>T	3.37:g.192517414C>A	ENSP00000376246:p.Lys79Asn						p.K79N	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	558	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		79					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.237G>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861713	0.71949	.	.	ENSG00000180611	ENST00000392452	T	0.54479	0.57	5.94	0.698	0.18087	.	0.107988	0.64402	D	0.000015	T	0.40956	0.1138	L	0.40543	1.245	0.54753	D	0.999988	P	0.47762	0.9	B	0.41646	0.362	T	0.33471	-0.9867	10	0.72032	D	0.01	.	9.8379	0.40980	0.0:0.4665:0.0:0.5335	.	79	Q8IYB1	M21D2_HUMAN	N	79	ENSP00000376246:K79N	ENSP00000376246:K79N	K	-	3	2	MB21D2	194000108	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.775000	0.38584	0.170000	0.19704	-0.300000	0.09419	AAG		0.448	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		13	29	1	0	2.31682e-05	0.003163	2.98321e-05	13	29				
ATP13A4	84239	broad.mit.edu	37	3	193201780	193201780	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:193201780G>C	ENST00000342695.4	-	8	1075	c.753C>G	c.(751-753)ctC>ctG	p.L251L	ATP13A4_ENST00000392443.3_Silent_p.L251L|ATP13A4_ENST00000295548.3_Silent_p.L251L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	251						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L251L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGAGATGGTGGAGTTTTACAG	0.343																																							uc003ftd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(751-753)CTC>CTG		ATPase type 13A4							141.0	143.0	143.0					3																	193201780		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193201780G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.753C>G	3.37:g.193201780G>C						ATP13A4_uc003fte.1_Silent_p.L251L|ATP13A4_uc011bsr.1_5'UTR	p.L251L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	8	861	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		251			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.753C>G	CCDS3304.2																																																																																				0.343	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		13	127	0	0	0	0.00245	0	13	127				
MUC4	4585	broad.mit.edu	37	3	195517450	195517450	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:195517450C>G	ENST00000463781.3	-	2	1460	c.1001G>C	c.(1000-1002)aGa>aCa	p.R334T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R334T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	339					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGAGATACTCTGGTGGTCTC	0.463																																							uc011bto.1		NA																	0					0						c.(1000-1002)AGA>ACA		mucin 4 isoform a							292.0	275.0	280.0					3																	195517450		2005	4182	6187	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517450C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1001G>C	3.37:g.195517450C>G	ENSP00000417498:p.Arg334Thr					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R216T	p.R334T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	339					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1001G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.901	0.167406	0.09339	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.59083	0.29;0.34	3.55	-5.1	0.02911	.	.	.	.	.	T	0.31513	0.0799	N	0.19112	0.55	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.12837	0.006;0.008	T	0.32348	-0.9910	9	0.08599	T	0.76	.	7.0954	0.25307	0.0:0.2004:0.5242:0.2754	.	334;339	E7ESK3;Q99102	.;MUC4_HUMAN	T	334;334;308	ENSP00000417498:R334T;ENSP00000420243:R334T	ENSP00000376209:R308T	R	-	2	0	MUC4	197001845	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.289000	0.01149	-1.238000	0.02535	-0.169000	0.13324	AGA		0.463	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	208	0	0	0	0.000248	0	4	208				
NRROS	375387	broad.mit.edu	37	3	196386747	196386747	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:196386747A>T	ENST00000328557.4	+	3	436	c.233A>T	c.(232-234)cAg>cTg	p.Q78L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	78					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CACTCCCTCCAGCCTTACCCT	0.677																																							uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(232-234)CAG>CTG		leucine rich repeat containing 33 precursor							68.0	60.0	62.0					3																	196386747		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196386747A>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.233A>T	3.37:g.196386747A>T	ENSP00000328625:p.Gln78Leu						p.Q78L	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	337	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		78			Extracellular (Potential).|LRR 1.			Missense_Mutation	SNP	ENST00000328557.4	37	c.233A>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	A	1.886	-0.456705	0.04540	.	.	ENSG00000174004	ENST00000328557	T	0.46063	0.88	6.07	-2.58	0.06228	.	0.890380	0.09830	N	0.750285	T	0.22437	0.0541	L	0.31420	0.93	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.22626	-1.0211	10	0.22109	T	0.4	.	2.214	0.03955	0.2256:0.0925:0.1488:0.5331	.	78	Q86YC3	LRC33_HUMAN	L	78	ENSP00000328625:Q78L	ENSP00000328625:Q78L	Q	+	2	0	LRRC33	197871144	0.000000	0.05858	0.012000	0.15200	0.816000	0.46133	0.393000	0.20817	-0.077000	0.12752	0.533000	0.62120	CAG		0.677	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		10	20	0	0	0	0.008291	0	10	20				
PSAPL1	768239	broad.mit.edu	37	4	7435511	7435511	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:7435511A>T	ENST00000319098.4	-	1	1189	c.1096T>A	c.(1096-1098)Tgt>Agt	p.C366S	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	366	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						CGGTTGCCACACAGACGGATG	0.607																																							uc011bwj.1		NA																	0					0						c.(1096-1098)TGT>AGT		prosaposin-like protein 1							102.0	107.0	105.0					4																	7435511		2130	4238	6368	SO:0001583	missense	768239				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7435511A>T	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.1096T>A	4.37:g.7435511A>T	ENSP00000317445:p.Cys366Ser					SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	p.C366S	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN			1	1190	-			366			Saposin B-type 3.		A0A184|Q8N7T4	Missense_Mutation	SNP	ENST00000319098.4	37	c.1096T>A	CCDS47009.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857669	0.51376	.	.	ENSG00000178597	ENST00000319098	D	0.99982	-10.72	3.8	2.57	0.30868	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.88842	2.985	0.26377	N	0.976792	D	0.89917	1.0	D	0.79108	0.992	D	0.96537	0.9397	10	0.87932	D	0	-22.8737	6.352	0.21381	0.7801:0.0:0.0:0.2199	.	366	Q6NUJ1	SAPL1_HUMAN	S	366	ENSP00000317445:C366S	ENSP00000317445:C366S	C	-	1	0	PSAPL1	7486412	0.096000	0.21769	0.025000	0.17156	0.023000	0.10783	1.905000	0.39878	0.602000	0.29896	0.459000	0.35465	TGT		0.607	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			12	89	0	0	0	0.001368	0	12	89				
PSAPL1	768239	broad.mit.edu	37	4	7435731	7435731	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:7435731C>G	ENST00000319098.4	-	1	969	c.876G>C	c.(874-876)gtG>gtC	p.V292V	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	292	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						CCTCACAGGTCACACCGGCCT	0.597																																							uc011bwj.1		NA																	0					0						c.(874-876)GTG>GTC		prosaposin-like protein 1							52.0	58.0	56.0					4																	7435731		2156	4259	6415	SO:0001819	synonymous_variant	768239				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7435731C>G	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.876G>C	4.37:g.7435731C>G						SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	p.V292V	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN			1	970	-			292			Saposin B-type 3.		A0A184|Q8N7T4	Silent	SNP	ENST00000319098.4	37	c.876G>C	CCDS47009.1																																																																																				0.597	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			6	23	0	0	0	0.001168	0	6	23				
SLC2A9	56606	broad.mit.edu	37	4	9828093	9828093	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:9828093C>T	ENST00000264784.3	-	12	1604	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	SLC2A9_ENST00000506583.1_Silent_p.R488R|SLC2A9_ENST00000309065.3_Silent_p.R488R	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATGCTTTGTTCCTTTTGGAAA	0.423																																							uc003gmc.2		NA																	0				ovary(3)	3						c.(1549-1551)AGG>AGA		solute carrier family 2, member 9 protein							177.0	163.0	168.0					4																	9828093		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828093C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1551G>A	4.37:g.9828093C>T						SLC2A9_uc003gmd.2_Silent_p.R488R	p.R517R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			12	1612	-			517			Cytoplasmic (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1551G>A	CCDS3407.1																																																																																				0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			31	129	0	0	0	0.002445	0	31	129				
BOD1L1	259282	broad.mit.edu	37	4	13604345	13604345	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:13604345C>A	ENST00000040738.5	-	10	4314	c.4179G>T	c.(4177-4179)gtG>gtT	p.V1393V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1393						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCCACAATCACGCCCGTTA	0.398																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(4177-4179)GTG>GTT		biorientation of chromosomes in cell division							131.0	127.0	128.0					4																	13604345		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604345C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4179G>T	4.37:g.13604345C>A						BOD1L_uc010idr.1_Silent_p.V730V	p.V1393V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	4296	-			1393					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.4179G>T	CCDS3411.2																																																																																				0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		29	99	1	0	1.88708e-17	0.008361	3.50533e-17	29	99				
SLIT2	9353	broad.mit.edu	37	4	20525666	20525666	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:20525666A>T	ENST00000504154.1	+	14	1556	c.1304A>T	c.(1303-1305)gAc>gTc	p.D435V	SLIT2_ENST00000503823.1_Missense_Mutation_p.D435V|SLIT2_ENST00000503837.1_Missense_Mutation_p.D439V|SLIT2_ENST00000273739.5_Missense_Mutation_p.D439V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	435	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTATTTGTGACTGCCATCTC	0.483																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1303-1305)GAC>GTC		slit homolog 2 precursor							112.0	115.0	114.0					4																	20525666		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525666A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1304A>T	4.37:g.20525666A>T	ENSP00000422591:p.Asp435Val					SLIT2_uc003gps.1_Missense_Mutation_p.D435V	p.D435V	NM_004787	NP_004778	O94813	SLIT2_HUMAN			14	1508	+			435			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1304A>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323806	0.81580	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.81	5.81	0.92471	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.97110	0.84;1.0	T	0.77830	-0.2442	10	0.87932	D	0	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	435;435	O94813-3;O94813	.;SLIT2_HUMAN	V	435;435;439;439;439	ENSP00000427548:D435V;ENSP00000422591:D435V;ENSP00000273739:D439V;ENSP00000422261:D439V	ENSP00000273739:D439V	D	+	2	0	SLIT2	20134764	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.281000	0.95811	2.216000	0.71823	0.533000	0.62120	GAC		0.483	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			31	138	0	0	0	0.008361	0	31	138				
SLIT2	9353	broad.mit.edu	37	4	20541151	20541151	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:20541151T>C	ENST00000504154.1	+	19	2172	c.1920T>C	c.(1918-1920)aaT>aaC	p.N640N	SLIT2_ENST00000503823.1_Silent_p.N632N|SLIT2_ENST00000503837.1_Silent_p.N636N|SLIT2_ENST00000273739.5_Silent_p.N644N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	640					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATGATAATCAAATTACTA	0.378																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1918-1920)AAT>AAC		slit homolog 2 precursor							138.0	131.0	134.0					4																	20541151		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541151T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1920T>C	4.37:g.20541151T>C						SLIT2_uc003gps.1_Silent_p.N632N	p.N640N	NM_004787	NP_004778	O94813	SLIT2_HUMAN			19	2124	+			640			LRR 16.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.1920T>C	CCDS3426.1																																																																																				0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			9	42	0	0	0	0.004482	0	9	42				
PCDH7	5099	broad.mit.edu	37	4	30724559	30724559	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:30724559C>G	ENST00000361762.2	+	1	2523	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	PCDH7_ENST00000543491.1_Missense_Mutation_p.I505M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	505	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACGTGGTCATCGTGGCGGTGG	0.602																																							uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1513-1515)ATC>ATG		protocadherin 7 isoform a precursor							63.0	53.0	57.0					4																	30724559		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724559C>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1515C>G	4.37:g.30724559C>G	ENSP00000355243:p.Ile505Met					PCDH7_uc011bxw.1_Missense_Mutation_p.I458M|PCDH7_uc011bxx.1_Missense_Mutation_p.I505M	p.I505M	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2523	+			505			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1515C>G	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.57|10.57	1.386172|1.386172	0.25031|0.25031	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.26373|.	1.74;1.74|.	5.26|5.26	-10.5|-10.5	0.00291|0.00291	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.92604|0.92604	3.325|3.325	0.28359|0.28359	N|N	0.920547|0.920547	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.81422|0.81422	-0.0940|-0.0940	9|5	0.87932|.	D|.	0|.	.|.	20.4849|20.4849	0.99199|0.99199	0.1352:0.7365:0.0:0.1283|0.1352:0.7365:0.0:0.1283	.|.	505;458;505|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	M|G	505;505;458|195	ENSP00000355243:I505M;ENSP00000441802:I505M|.	ENSP00000330302:I458M|.	I|R	+|+	3|1	3|0	PCDH7|PCDH7	30333657|30333657	0.000000|0.000000	0.05858|0.05858	0.402000|0.402000	0.26371|0.26371	0.992000|0.992000	0.81027|0.81027	-3.495000|-3.495000	0.00452|0.00452	-2.813000|-2.813000	0.00347|0.00347	-0.169000|-0.169000	0.13324|0.13324	ATC|CGT		0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		12	25	0	0	0	0.000978	0	12	25				
WDR19	57728	broad.mit.edu	37	4	39255635	39255635	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:39255635T>C	ENST00000399820.3	+	26	3140	c.2986T>C	c.(2986-2988)Tat>Cat	p.Y996H	WDR19_ENST00000288634.7_Missense_Mutation_p.Y836H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	996					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AATGGAAATCTATGCAGATAT	0.358																																							uc003gtv.2		NA																	0				large_intestine(1)	1						c.(2986-2988)TAT>CAT		WD repeat domain 19							102.0	99.0	100.0					4																	39255635		1852	4107	5959	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39255635T>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2986T>C	4.37:g.39255635T>C	ENSP00000382717:p.Tyr996His					WDR19_uc011byi.1_Missense_Mutation_p.Y836H|WDR19_uc003gtw.1_Missense_Mutation_p.Y593H	p.Y996H	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			26	3140	+			996					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2986T>C	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054238	0.75960	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.66815	-0.23;-0.23	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.81341	2.54	0.80722	D	1	P	0.52170	0.951	P	0.57425	0.82	T	0.78507	-0.2177	10	0.30854	T	0.27	-19.2106	15.8768	0.79170	0.0:0.0:0.0:1.0	.	996	Q8NEZ3	WDR19_HUMAN	H	996;836	ENSP00000382717:Y996H;ENSP00000288634:Y836H	ENSP00000288634:Y836H	Y	+	1	0	WDR19	38932030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.810000	0.86072	2.131000	0.65755	0.459000	0.35465	TAT		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			5	72	0	0	0	0.000602	0	5	72				
SHISA3	152573	broad.mit.edu	37	4	42403163	42403163	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:42403163C>A	ENST00000319234.4	+	2	630	c.412C>A	c.(412-414)Ctc>Atc	p.L138I		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	138					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCTTCTCACTCCGCAGCTA	0.587																																							uc003gwp.2		NA																	0				ovary(1)|skin(1)	2						c.(412-414)CTC>ATC		shisa homolog 3 precursor							182.0	194.0	190.0					4																	42403163		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403163C>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.412C>A	4.37:g.42403163C>A	ENSP00000326445:p.Leu138Ile						p.L138I	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	630	+			138			Cytoplasmic (Potential).		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.412C>A	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302466	0.60195	.	.	ENSG00000178343	ENST00000319234	T	0.44083	0.93	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.51422	1.61	0.52501	D	0.999959	D	0.71674	0.998	D	0.70227	0.968	T	0.38672	-0.9650	10	0.11485	T	0.65	-12.0075	11.4545	0.50173	0.0:0.9171:0.0:0.0829	.	138	A0PJX4	SHSA3_HUMAN	I	138	ENSP00000326445:L138I	ENSP00000326445:L138I	L	+	1	0	SHISA3	42097920	0.993000	0.37304	0.915000	0.36163	0.778000	0.44026	3.091000	0.50199	2.582000	0.87167	0.655000	0.94253	CTC		0.587	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		28	234	1	0	5.60225e-13	0.001786	9.65831e-13	28	234				
ATP8A1	10396	broad.mit.edu	37	4	42487601	42487601	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:42487601C>A	ENST00000381668.5	-	25	2467	c.2236G>T	c.(2236-2238)Ggg>Tgg	p.G746W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G731W	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	746					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGGGTTTTCCCATCAATTATA	0.418																																							uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2236-2238)GGG>TGG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						120.0	106.0	110.0					4																	42487601		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42487601C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2236G>T	4.37:g.42487601C>A	ENSP00000371084:p.Gly746Trp					ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.G731W	p.G746W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			25	2468	-			746			Cytoplasmic (Potential).|ATP (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2236G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608014	0.66558	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.92397	-3.03;-3.03	5.28	5.28	0.74379	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99671	1.0996	10	0.87932	D	0	.	19.2859	0.94069	0.0:1.0:0.0:0.0	.	731;746	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	W	746;731	ENSP00000371084:G746W;ENSP00000264449:G731W	ENSP00000264449:G731W	G	-	1	0	ATP8A1	42182358	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	7.398000	0.79919	2.624000	0.88883	0.655000	0.94253	GGG		0.418	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		11	38	1	0	6.40141e-05	0.000978	8.03467e-05	11	38				
GABRG1	2565	broad.mit.edu	37	4	46053441	46053441	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:46053441C>A	ENST00000295452.4	-	8	1298	c.1131G>T	c.(1129-1131)tcG>tcT	p.S377S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	377					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)	TTTAACATACCGAGGCTTTAT	0.313																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(1129-1131)TCG>TCT		gamma-aminobutyric acid A receptor, gamma 1							39.0	37.0	38.0					4																	46053441		2201	4297	6498	SO:0001630	splice_region_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053441C>A	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.1131+1G>T	4.37:g.46053441C>A							p.S377S	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1283	-			377			Cytoplasmic (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.1131G>T	CCDS3470.1																																																																																				0.313	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Silent	5	12	1	0	1.024e-07	0.000602	1.49157e-07	5	12				
GABRB1	2560	broad.mit.edu	37	4	47427936	47427936	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:47427936C>A	ENST00000295454.3	+	9	1618	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GABRB1_ENST00000538619.1_Missense_Mutation_p.D372E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	442					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	AGATCCCCGACTTGACTGATG	0.557																																							uc003gxh.2		NA																	0				ovary(2)	2						c.(1324-1326)GAC>GAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						95.0	94.0	94.0					4																	47427936		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427936C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1326C>A	4.37:g.47427936C>A	ENSP00000295454:p.Asp442Glu					GABRB1_uc011bze.1_Missense_Mutation_p.D372E	p.D442E	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1700	+			442			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1326C>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970831	0.34754	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85411	-1.98;-1.98	5.34	1.48	0.22813	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.189691	0.44688	D	0.000424	D	0.87513	0.6196	M	0.71296	2.17	0.44890	D	0.997908	P;D	0.71674	0.553;0.998	B;P	0.61592	0.281;0.891	T	0.83140	-0.0109	10	0.20046	T	0.44	-24.2888	8.6036	0.33760	0.0:0.5119:0.0:0.4881	.	372;442	F5GXV5;P18505	.;GBRB1_HUMAN	E	442;372	ENSP00000295454:D442E;ENSP00000440330:D372E	ENSP00000295454:D442E	D	+	3	2	GABRB1	47122693	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	0.745000	0.26259	0.403000	0.25479	-0.143000	0.13931	GAC		0.557	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			16	72	1	0	2.23348e-06	0.004007	3.05455e-06	16	72				
LRRC66	339977	broad.mit.edu	37	4	52860965	52860965	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:52860965C>A	ENST00000343457.3	-	4	2229	c.2223G>T	c.(2221-2223)ggG>ggT	p.G741G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	741						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCTTGCTTGCCCCTGAGCTCT	0.488																																							uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2221-2223)GGG>GGT		leucine rich repeat containing 66							123.0	122.0	122.0					4																	52860965		2029	4193	6222	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52860965C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2223G>T	4.37:g.52860965C>A							p.G741G	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2236	-			741						Silent	SNP	ENST00000343457.3	37	c.2223G>T	CCDS43229.1																																																																																				0.488	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		39	81	1	0	9.73076e-26	0.006999	1.919e-25	39	81				
AASDH	132949	broad.mit.edu	37	4	57221417	57221417	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:57221417C>A	ENST00000205214.6	-	6	1214	c.1034G>T	c.(1033-1035)gGt>gTt	p.G345V	AASDH_ENST00000502617.1_Missense_Mutation_p.G345V|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.G345V|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000513376.1_Missense_Mutation_p.G245V|AASDH_ENST00000602986.1_Missense_Mutation_p.G192V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	345					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTCTGTGATACCATAAACATT	0.393																																							uc003hbn.2		NA																	0				ovary(4)	4						c.(1033-1035)GGT>GTT		aminoadipate-semialdehyde dehydrogenase							97.0	89.0	92.0					4																	57221417		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221417C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1034G>T	4.37:g.57221417C>A	ENSP00000205214:p.Gly345Val					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.G192V|AASDH_uc003hbo.2_Missense_Mutation_p.G245V|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.G345V|AASDH_uc003hbp.2_Missense_Mutation_p.G345V	p.G345V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1187	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	345					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1034G>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896223	0.91962	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	D;D;T;D	0.85773	-2.03;-2.03;0.08;-2.03	5.68	5.68	0.88126	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97078	0.9782	10	0.87932	D	0	-19.9263	19.7917	0.96461	0.0:1.0:0.0:0.0	.	192;345;345;345	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	V	345;245;345;192;345	ENSP00000205214:G345V;ENSP00000423760:G245V;ENSP00000409656:G345V;ENSP00000421171:G345V	ENSP00000205214:G345V	G	-	2	0	AASDH	56916174	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.062000	0.76706	2.685000	0.91497	0.650000	0.86243	GGT		0.393	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		25	43	1	0	5.35356e-11	0.00278	8.74675e-11	25	43				
AASDH	132949	broad.mit.edu	37	4	57221579	57221579	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:57221579G>A	ENST00000205214.6	-	6	1052	c.872C>T	c.(871-873)aCa>aTa	p.T291I	AASDH_ENST00000502617.1_Missense_Mutation_p.T291I|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.T291I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.T191I|AASDH_ENST00000602986.1_Missense_Mutation_p.T138I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	291					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCTAAGCAATGTTGGTGTTGC	0.343																																							uc003hbn.2		NA																	0				ovary(4)	4						c.(871-873)ACA>ATA		aminoadipate-semialdehyde dehydrogenase							90.0	87.0	88.0					4																	57221579		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221579G>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.872C>T	4.37:g.57221579G>A	ENSP00000205214:p.Thr291Ile					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.T138I|AASDH_uc003hbo.2_Missense_Mutation_p.T191I|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.T291I|AASDH_uc003hbp.2_Missense_Mutation_p.T291I	p.T291I	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1025	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	291					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.872C>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840984	0.91197	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.044676	0.85682	D	0.000000	T	0.78811	0.4342	M	0.93328	3.405	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.994;0.992;0.997	T	0.83320	-0.0018	10	0.87932	D	0	-16.9272	20.3172	0.98658	0.0:0.0:1.0:0.0	.	138;291;291;291	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	291;191;291;138;291	ENSP00000205214:T291I;ENSP00000423760:T191I;ENSP00000409656:T291I;ENSP00000421171:T291I	ENSP00000205214:T291I	T	-	2	0	AASDH	56916336	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.925000	0.92832	2.801000	0.96364	0.650000	0.86243	ACA		0.343	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		20	28	0	0	0	0.002299	0	20	28				
LPHN3	23284	broad.mit.edu	37	4	62599255	62599255	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:62599255C>T	ENST00000514591.1	+	7	1507	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	LPHN3_ENST00000507164.1_Missense_Mutation_p.P461L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P461L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P393L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P461L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P393L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P393L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P461L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P461L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P461L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P393L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P393L|LPHN3_ENST00000512091.2_Missense_Mutation_p.P393L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P393L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P461L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	393	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATTTTGGACCTCTGGATAGT	0.363																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1177-1179)CCT>CTT		latrophilin 3 precursor							40.0	38.0	39.0					4																	62599255		1835	4089	5924	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599255C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1178C>T	4.37:g.62599255C>T	ENSP00000422533:p.Pro393Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.P393L|LPHN3_uc010ihg.1_Missense_Mutation_p.P461L|LPHN3_uc003hcs.1_Missense_Mutation_p.P222L	p.P393L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	1351	+			393			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1178C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774811	0.31411	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.46;-0.44;-0.47;-0.47;-0.45;-0.44;-0.47;-0.47;-0.45;-0.45;-0.45;-0.48;-0.49;-0.49;-0.47	5.31	5.31	0.75309	.	0.403885	0.27730	N	0.018088	T	0.66742	0.2820	M	0.66506	2.035	0.52099	D	0.999947	B;B;B	0.33777	0.126;0.425;0.0	B;B;B	0.31812	0.096;0.136;0.001	T	0.66885	-0.5810	10	0.39692	T	0.17	.	11.4352	0.50064	0.0:0.9173:0.0:0.0827	.	393;461;393	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	393;393;461;461;393;393;393;393;393;461;461;461;393;393;393;461;461;393	ENSP00000423388:P393L;ENSP00000422533:P393L;ENSP00000423787:P461L;ENSP00000425033:P461L;ENSP00000424120:P393L;ENSP00000439831:P393L;ENSP00000421476:P461L;ENSP00000424030:P461L;ENSP00000421372:P461L;ENSP00000425201:P393L;ENSP00000423434:P393L;ENSP00000421627:P393L;ENSP00000420931:P461L;ENSP00000425884:P461L;ENSP00000424258:P393L	ENSP00000280009:P393L	P	+	2	0	LPHN3	62281850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.563000	0.60823	2.471000	0.83476	0.557000	0.71058	CCT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			6	19	0	0	0	0.001984	0	6	19				
UBA6	55236	broad.mit.edu	37	4	68566807	68566807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:68566807G>A	ENST00000322244.5	-	1	90	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000506606.1_RNA|UBA6-AS1_ENST00000514109.1_RNA|UBA6-AS1_ENST00000498917.2_RNA|UBA6_ENST00000420827.2_Nonsense_Mutation_p.Q11*	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	11					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCTTCCCCCTGATGGGCGGCC	0.687											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003hdg.3		NA																	0					0						c.(31-33)CAG>TAG		ubiquitin-activating enzyme E1-like 2							47.0	44.0	45.0					4																	68566807		2203	4300	6503	SO:0001587	stop_gained	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68566807G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.31C>T	4.37:g.68566807G>A	ENSP00000313454:p.Gln11*		OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1108	UBA6_uc003hdi.2_Nonsense_Mutation_p.Q11*|UBA6_uc003hdj.2_Nonsense_Mutation_p.Q11*|LOC550112_uc003hdl.3_5'Flank|LOC550112_uc003hdk.2_5'Flank	p.Q11*	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			1	83	-			11					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Nonsense_Mutation	SNP	ENST00000322244.5	37	c.31C>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545489	0.65198	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	.	.	.	3.15	0.211	0.15236	.	2.542600	0.01832	N	0.034770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	14.6735	1.2872	0.02053	0.1447:0.2733:0.3829:0.1991	.	.	.	.	X	11	.	ENSP00000313454:Q11X	Q	-	1	0	UBA6	68249402	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.316000	0.19469	-0.005000	0.14395	-0.188000	0.12872	CAG		0.687	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		18	44	0	0	0	0.006122	0	18	44				
TMPRSS11B	132724	broad.mit.edu	37	4	69107514	69107514	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:69107514A>G	ENST00000332644.5	-	2	178	c.17T>C	c.(16-18)aTa>aCa	p.I6T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	6						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGGGAAGATATGCCGTGCCT	0.383																																							uc003hdw.3		NA																	0				ovary(1)	1						c.(16-18)ATA>ACA		transmembrane protease, serine 11B							73.0	71.0	72.0					4																	69107514		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107514A>G	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.17T>C	4.37:g.69107514A>G	ENSP00000330475:p.Ile6Thr						p.I6T	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			2	153	-			6			Cytoplasmic (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.17T>C	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297874	0.23650	.	.	ENSG00000185873	ENST00000332644	D	0.89050	-2.46	5.25	-1.91	0.07641	.	1.081790	0.07358	N	0.883627	T	0.82204	0.4986	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.62812	-0.6775	10	0.21014	T	0.42	.	5.1804	0.15158	0.4962:0.1539:0.3499:0.0	.	6	Q86T26	TM11B_HUMAN	T	6	ENSP00000330475:I6T	ENSP00000330475:I6T	I	-	2	0	TMPRSS11B	68790109	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.086000	0.11233	-0.191000	0.10448	0.482000	0.46254	ATA		0.383	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		7	66	0	0	0	0.001984	0	7	66				
UGT2B28	54490	broad.mit.edu	37	4	70146396	70146396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:70146396G>T	ENST00000335568.5	+	1	180	c.178G>T	c.(178-180)Gct>Tct	p.A60S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.A60S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	60					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCATCTTCAGCTTCCATTCT	0.403																																							uc003hej.2		NA																	0				skin(1)	1						c.(178-180)GCT>TCT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						105.0	126.0	119.0					4																	70146396		2079	4252	6331	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146396G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.178G>T	4.37:g.70146396G>T	ENSP00000334276:p.Ala60Ser					UGT2B28_uc010ihr.2_Missense_Mutation_p.A60S	p.A60S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	180	+			60					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.178G>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	6.463	0.453561	0.12283	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.61859	0.07;0.07	2.18	0.2	0.15181	.	0.409695	0.18965	U	0.126291	T	0.50343	0.1610	L	0.38175	1.15	0.09310	N	0.999998	P;B	0.48230	0.907;0.184	P;B	0.52554	0.702;0.189	T	0.39440	-0.9614	10	0.40728	T	0.16	.	4.4688	0.11703	0.1404:0.0:0.6447:0.2149	.	60;60	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	S	60	ENSP00000334276:A60S;ENSP00000427399:A60S	ENSP00000334276:A60S	A	+	1	0	UGT2B28	70180985	0.000000	0.05858	0.592000	0.28758	0.024000	0.10985	-0.762000	0.04745	-0.137000	0.11455	-1.207000	0.01640	GCT		0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		88	134	1	0	1.16018e-38	0.00361	2.33953e-38	88	134				
AFM	173	broad.mit.edu	37	4	74367545	74367545	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:74367545A>T	ENST00000226355.3	+	13	1781	c.1688A>T	c.(1687-1689)gAt>gTt	p.D563V		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	563	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAACTCACAGATGAAGAGCTG	0.383																																							uc003hhb.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1687-1689)GAT>GTT		afamin precursor							94.0	94.0	94.0					4																	74367545		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74367545A>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1688A>T	4.37:g.74367545A>T	ENSP00000226355:p.Asp563Val						p.D563V	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1719	+	Breast(15;0.00102)		563			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1688A>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030313	0.19512	.	.	ENSG00000079557	ENST00000226355	T	0.71579	-0.58	4.94	-0.51	0.11973	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.372960	0.04660	N	0.408604	T	0.59932	0.2230	L	0.45137	1.4	0.09310	N	0.999999	B	0.26935	0.164	B	0.21917	0.037	T	0.46048	-0.9219	10	0.46703	T	0.11	.	4.6419	0.12552	0.5562:0.1602:0.2836:0.0	.	563	P43652	AFAM_HUMAN	V	563	ENSP00000226355:D563V	ENSP00000226355:D563V	D	+	2	0	AFM	74586409	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.300000	0.19156	0.004000	0.14682	-0.323000	0.08544	GAT		0.383	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			11	14	0	0	0	0.000978	0	11	14				
CCDC158	339965	broad.mit.edu	37	4	77288729	77288729	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:77288729A>G	ENST00000388914.3	-	11	1700	c.1548T>C	c.(1546-1548)aaT>aaC	p.N516N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	516										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGATCTCTGCATTGGTAGCCT	0.478																																							uc003hkb.3		NA																	0				skin(3)|ovary(2)|pancreas(1)	6						c.(1546-1548)AAT>AAC		coiled-coil domain containing 158							101.0	94.0	97.0					4																	77288729		1884	4114	5998	SO:0001819	synonymous_variant	339965							g.chr4:77288729A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1548T>C	4.37:g.77288729A>G							p.N516N	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			11	1701	-			516			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1548T>C	CCDS43242.1																																																																																				0.478	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		5	69	0	0	0	0.000602	0	5	69				
SHROOM3	57619	broad.mit.edu	37	4	77691881	77691881	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:77691881G>T	ENST00000296043.6	+	10	6405	c.5452G>T	c.(5452-5454)Gtg>Ttg	p.V1818L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1818	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGAGAAGAGGTGGAGGCTCT	0.552																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(5452-5454)GTG>TTG		shroom family member 3 protein							136.0	134.0	134.0					4																	77691881		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77691881G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5452G>T	4.37:g.77691881G>T	ENSP00000296043:p.Val1818Leu					SHROOM3_uc003hkg.2_Missense_Mutation_p.V1596L	p.V1818L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6405	+			1818			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5452G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.709902	0.89018	.	.	ENSG00000138771	ENST00000296043	T	0.34859	1.34	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.087817	0.47852	D	0.000209	T	0.53206	0.1782	L	0.39085	1.19	0.47949	D	0.999559	D	0.89917	1.0	D	0.75484	0.986	T	0.52771	-0.8531	10	0.87932	D	0	-28.6753	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1818	Q8TF72	SHRM3_HUMAN	L	1818	ENSP00000296043:V1818L	ENSP00000296043:V1818L	V	+	1	0	SHROOM3	77910905	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.474000	0.66781	2.879000	0.98667	0.650000	0.86243	GTG		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		30	83	1	0	1.88708e-17	0.008361	3.50533e-17	30	83				
HPSE	10855	broad.mit.edu	37	4	84227453	84227453	+	Missense_Mutation	SNP	C	C	A	rs138882001	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:84227453C>A	ENST00000405413.2	-	10	1245	c.1109G>T	c.(1108-1110)gGc>gTc	p.G370V	HPSE_ENST00000512196.1_Intron|HPSE_ENST00000513463.1_Missense_Mutation_p.G312V|HPSE_ENST00000311412.5_Missense_Mutation_p.G370V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	370					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GGCTGACAGGCCCAATTTATC	0.423																																							uc003hoj.3		NA																	0				ovary(1)	1						c.(1108-1110)GGC>GTC		heparanase precursor	Heparin(DB01109)						105.0	97.0	100.0					4																	84227453		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84227453C>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1109G>T	4.37:g.84227453C>A	ENSP00000384262:p.Gly370Val					HPSE_uc010ika.2_Missense_Mutation_p.G312V|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Missense_Mutation_p.G113V|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.G370V	p.G370V	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	9	1208	-		Hepatocellular(203;0.114)	370					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1109G>T	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366901	0.82463	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000454730;ENST00000513463	T;T;T	0.56444	0.46;0.46;0.46	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049396	0.85682	D	0.000000	T	0.79724	0.4495	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.84478	0.0603	10	0.66056	D	0.02	-12.7363	18.2572	0.90023	0.0:1.0:0.0:0.0	.	312;312;370	A9JIG7;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	V	370;370;84;312	ENSP00000308107:G370V;ENSP00000384262:G370V;ENSP00000421365:G312V	ENSP00000308107:G370V	G	-	2	0	HPSE	84446477	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.760000	0.74939	2.637000	0.89404	0.491000	0.48974	GGC		0.423	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		15	52	1	0	2.23348e-06	0.004007	3.05455e-06	15	52				
WDFY3	23001	broad.mit.edu	37	4	85731345	85731345	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:85731345T>C	ENST00000295888.4	-	14	2447	c.2040A>G	c.(2038-2040)caA>caG	p.Q680Q	WDFY3_ENST00000322366.6_Silent_p.Q680Q|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	680					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTCAAACACTTGATTCTGGT	0.438																																							uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2038-2040)CAA>CAG		WD repeat and FYVE domain containing 3 isoform							92.0	88.0	89.0					4																	85731345		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731345T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2040A>G	4.37:g.85731345T>C						WDFY3_uc003hpf.2_Silent_p.Q680Q	p.Q680Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2448	-		Hepatocellular(203;0.114)	680					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.2040A>G	CCDS3609.1																																																																																				0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	98	0	0	0	0.000602	0	4	98				
CCSER1	401145	broad.mit.edu	37	4	91229571	91229571	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:91229571C>T	ENST00000509176.1	+	2	424	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CCSER1_ENST00000432775.2_Missense_Mutation_p.P46S|CCSER1_ENST00000333691.8_Missense_Mutation_p.P46S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	46	Ser-rich.																CAGTTCCTCTCCTTCCAGCAC	0.458																																							uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(136-138)CCT>TCT		KIAA1680 protein isoform 1							119.0	112.0	114.0					4																	91229571		1984	4176	6160	SO:0001583	missense	401145							g.chr4:91229571C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.136C>T	4.37:g.91229571C>T	ENSP00000425040:p.Pro46Ser					FAM190A_uc003hsu.3_Missense_Mutation_p.P46S|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.P46S	p.P46S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	476	+			46			Ser-rich.		Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.136C>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376669	0.82682	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.70986	-0.18;-0.53;-0.18	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.81288	0.4791	L	0.48642	1.525	0.48696	D	0.999698	P;D;D	0.89917	0.783;1.0;1.0	B;D;D	0.97110	0.213;0.999;1.0	T	0.82350	-0.0501	10	0.87932	D	0	-24.4605	19.5936	0.95526	0.0:1.0:0.0:0.0	.	46;46;46	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	S	46	ENSP00000425040:P46S;ENSP00000389283:P46S;ENSP00000329482:P46S	ENSP00000329482:P46S	P	+	1	0	FAM190A	91448594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.793000	0.96121	0.655000	0.94253	CCT		0.458	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		5	56	0	0	0	0.000602	0	5	56				
DKK2	27123	broad.mit.edu	37	4	107845822	107845822	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:107845822G>T	ENST00000285311.3	-	3	1114	c.409C>A	c.(409-411)Cct>Act	p.P137T	DKK2_ENST00000513208.1_Missense_Mutation_p.P37T|DKK2_ENST00000510463.1_Missense_Mutation_p.P91T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	137					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGGATGTGAGGGGTTAAGATG	0.433																																							uc003hyi.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(409-411)CCT>ACT		dickkopf homolog 2 precursor							226.0	212.0	217.0					4																	107845822		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845822G>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.409C>A	4.37:g.107845822G>T	ENSP00000285311:p.Pro137Thr					DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.P137T	p.P137T	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1114	-		Hepatocellular(203;0.217)	137					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.409C>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512073	0.27036	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.41400	1.0;1.02;1.01	5.66	2.85	0.33270	.	0.104026	0.64402	D	0.000002	T	0.34861	0.0912	L	0.44542	1.39	0.43103	D	0.994798	B;P	0.43826	0.29;0.818	B;B	0.36244	0.17;0.22	T	0.20273	-1.0280	10	0.52906	T	0.07	-11.4979	16.4976	0.84249	0.0:0.37:0.63:0.0	.	137;137	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	T	137;37;91	ENSP00000285311:P137T;ENSP00000421255:P37T;ENSP00000423797:P91T	ENSP00000285311:P137T	P	-	1	0	DKK2	108065271	0.999000	0.42202	0.901000	0.35422	0.926000	0.56050	2.850000	0.48294	0.270000	0.21984	0.585000	0.79938	CCT		0.433	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			5	93	1	0	8.12818e-05	0.001984	0.000101263	5	93				
SEC24B	10427	broad.mit.edu	37	4	110384497	110384497	+	Missense_Mutation	SNP	G	G	T	rs201445712		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:110384497G>T	ENST00000265175.5	+	2	629	c.574G>T	c.(574-576)Gcg>Tcg	p.A192S	SEC24B_ENST00000399100.2_Missense_Mutation_p.A192S|SEC24B_ENST00000504968.2_Missense_Mutation_p.A223S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	192					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTAATGCCGCGTATCCTAG	0.453																																							uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(574-576)GCG>TCG		SEC24 (S. cerevisiae) homolog B isoform a							285.0	267.0	273.0					4																	110384497		2031	4195	6226	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384497G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.574G>T	4.37:g.110384497G>T	ENSP00000265175:p.Ala192Ser					SEC24B_uc003hzl.2_Missense_Mutation_p.A192S|SEC24B_uc011cfp.1_Missense_Mutation_p.A223S|SEC24B_uc011cfq.1_Missense_Mutation_p.A192S|SEC24B_uc011cfr.1_Missense_Mutation_p.A192S	p.A192S	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	629	+		Hepatocellular(203;0.217)	192					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.574G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673269	0.29693	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.78364	-0.97;-1.17;-1.15	5.41	5.41	0.78517	.	0.898324	0.09480	N	0.796502	T	0.62756	0.2454	N	0.08118	0	0.09310	N	0.999999	P;B;P;B	0.39424	0.543;0.228;0.673;0.104	B;B;B;B	0.43508	0.241;0.044;0.422;0.044	T	0.48906	-0.8993	10	0.07644	T	0.81	-0.6805	11.2146	0.48819	0.091:0.0:0.909:0.0	.	142;223;192;192	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	S	223;192;192	ENSP00000428564:A223S;ENSP00000382051:A192S;ENSP00000265175:A192S	ENSP00000265175:A192S	A	+	1	0	SEC24B	110603946	0.000000	0.05858	0.670000	0.29842	0.605000	0.37080	0.283000	0.18846	2.545000	0.85829	0.467000	0.42956	GCG		0.453	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			6	188	1	0	0.00116845	0.001168	0.00137772	6	188				
SEC24B	10427	broad.mit.edu	37	4	110434907	110434907	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:110434907T>C	ENST00000265175.5	+	10	1963	c.1908T>C	c.(1906-1908)ccT>ccC	p.P636P	SEC24B_ENST00000399100.2_Silent_p.P601P|SEC24B_ENST00000504968.2_Silent_p.P666P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	636					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATCTAGTTCCTGAAGAATTTA	0.333																																							uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1906-1908)CCT>CCC		SEC24 (S. cerevisiae) homolog B isoform a							115.0	108.0	110.0					4																	110434907		1800	4071	5871	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110434907T>C	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1908T>C	4.37:g.110434907T>C						SEC24B_uc003hzl.2_Silent_p.P601P|SEC24B_uc011cfp.1_Silent_p.P666P|SEC24B_uc011cfq.1_Silent_p.P635P|SEC24B_uc011cfr.1_Silent_p.P600P	p.P636P	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	10	1963	+		Hepatocellular(203;0.217)	636					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.1908T>C	CCDS47124.1																																																																																				0.333	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			3	85	0	0	0	0.000248	0	3	85				
NDNF	79625	broad.mit.edu	37	4	121966809	121966809	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:121966809T>C	ENST00000379692.4	-	2	710	c.184A>G	c.(184-186)Aag>Gag	p.K62E		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	62					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAATACCTCTTAGGTGTATCT	0.358																																							uc003idq.1		NA																	0					0						c.(184-186)AAG>GAG		hypothetical protein LOC79625 precursor							56.0	54.0	54.0					4																	121966809		1817	4077	5894	SO:0001583	missense	79625							g.chr4:121966809T>C	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.184A>G	4.37:g.121966809T>C	ENSP00000369014:p.Lys62Glu						p.K62E	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			2	711	-			62					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.184A>G	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566542	0.65651	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.72	5.72	0.89469	.	0.043712	0.85682	D	0.000000	T	0.56848	0.2013	L	0.59436	1.845	0.80722	D	1	P	0.40000	0.698	B	0.38378	0.272	T	0.62909	-0.6754	9	0.72032	D	0.01	.	16.0205	0.80486	0.0:0.0:0.0:1.0	.	62	Q8TB73	NDNF_HUMAN	E	62	.	ENSP00000369014:K62E	K	-	1	0	NDNF	122186259	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	AAG		0.358	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		24	20	0	0	0	0.004656	0	24	20				
PCDH10	57575	broad.mit.edu	37	4	134084345	134084345	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:134084345G>T	ENST00000264360.5	+	4	3837	c.3011G>T	c.(3010-3012)gGc>gTc	p.G1004V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1004					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCCACCTTTGGCAAAGAGAAG	0.517																																							uc003iha.2		NA																	0				ovary(2)	2						c.(3010-3012)GGC>GTC		protocadherin 10 isoform 1 precursor							119.0	128.0	125.0					4																	134084345		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084345G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3011G>T	4.37:g.134084345G>T	ENSP00000264360:p.Gly1004Val						p.G1004V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3837	+			1004			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.3011G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217750	0.79352	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.80653	-1.4	5.24	5.24	0.73138	.	0.000000	0.40302	N	0.001140	D	0.87637	0.6227	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88353	0.2982	10	0.87932	D	0	.	18.6158	0.91302	0.0:0.0:1.0:0.0	.	1004	Q9P2E7	PCD10_HUMAN	V	1004	ENSP00000264360:G1004V	ENSP00000264360:G1004V	G	+	2	0	PCDH10	134303795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.355000	0.79434	2.717000	0.92951	0.650000	0.86243	GGC		0.517	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		50	90	1	0	2.12129e-23	0.00361	4.14082e-23	50	90				
LRBA	987	broad.mit.edu	37	4	151827516	151827516	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:151827516G>A	ENST00000357115.3	-	12	1778	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	LRBA_ENST00000535741.1_Missense_Mutation_p.S512L|LRBA_ENST00000510413.1_Missense_Mutation_p.S512L|LRBA_ENST00000507224.1_Missense_Mutation_p.S512L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	512						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATAGCAATTGAGTTCTTCAA	0.308																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(1534-1536)TCA>TTA		LPS-responsive vesicle trafficking, beach and							106.0	112.0	110.0					4																	151827516		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151827516G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1535C>T	4.37:g.151827516G>A	ENSP00000349629:p.Ser512Leu					LRBA_uc003ilu.3_Missense_Mutation_p.S512L|LRBA_uc010ipk.1_Missense_Mutation_p.S431L	p.S512L	NM_006726	NP_006717	P50851	LRBA_HUMAN			12	2009	-	all_hematologic(180;0.151)		512					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1535C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856385	0.91355	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.74718	0.3753	M	0.82323	2.585	0.80722	D	1	D;D;P	0.63880	0.993;0.991;0.925	D;D;P	0.79108	0.977;0.992;0.621	T	0.78430	-0.2207	10	0.87932	D	0	.	15.7065	0.77588	0.0:0.1371:0.8629:0.0	.	512;512;512	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	L	512	ENSP00000446299:S512L;ENSP00000421552:S512L;ENSP00000349629:S512L;ENSP00000422180:S512L	ENSP00000349629:S512L	S	-	2	0	LRBA	152046966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.701000	0.98710	2.579000	0.87056	0.563000	0.77884	TCA		0.308	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			5	118	0	0	0	0.001984	0	5	118				
DCHS2	54798	broad.mit.edu	37	4	155156222	155156222	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:155156222C>G	ENST00000357232.4	-	25	8216	c.8217G>C	c.(8215-8217)gaG>gaC	p.E2739D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2739					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)		CCAGGATGCTCTCTTTTGCCT	0.473																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(8215-8217)GAG>GAC		dachsous 2 isoform 1							77.0	63.0	68.0					4																	155156222		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156222C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8217G>C	4.37:g.155156222C>G	ENSP00000349768:p.Glu2739Asp						p.E2739D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8217	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2739					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.8217G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746907	0.30955	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	5.94	2.31	0.28768	.	0.459044	0.23114	N	0.051765	T	0.33933	0.0880	L	0.29908	0.895	0.09310	N	0.999999	P	0.43094	0.799	B	0.38378	0.272	T	0.18304	-1.0341	10	0.15066	T	0.55	.	9.2691	0.37659	0.0:0.5668:0.0:0.4332	.	2739	Q6V1P9	PCD23_HUMAN	D	2739	ENSP00000349768:E2739D	ENSP00000349768:E2739D	E	-	3	2	DCHS2	155375672	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.075000	0.14686	0.121000	0.18284	0.557000	0.71058	GAG		0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	33	0	0	0	0.001168	0	6	33				
GUCY1B3	2983	broad.mit.edu	37	4	156696161	156696161	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:156696161G>C	ENST00000264424.8	+	3	201	c.119G>C	c.(118-120)aGa>aCa	p.R40T	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R40T|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R20T|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000505154.1_5'UTR|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R40T	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	40					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTTCTTGTCAGAATAATATAT	0.358																																							uc003ipc.2		NA																	0					0						c.(118-120)AGA>ACA		guanylate cyclase 1, soluble, beta 3							124.0	122.0	123.0					4																	156696161		1839	4088	5927	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156696161G>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.119G>C	4.37:g.156696161G>C	ENSP00000264424:p.Arg40Thr					GUCY1B3_uc011cio.1_Missense_Mutation_p.R40T|GUCY1B3_uc011cip.1_Missense_Mutation_p.R20T|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.R40T|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR	p.R40T	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	3	286	+	all_hematologic(180;0.24)	Renal(120;0.0854)	40					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.119G>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023510	0.75390	.	.	ENSG00000061918	ENST00000502959;ENST00000505764;ENST00000264424;ENST00000503520	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.3	4.46	0.54185	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.989;0.996;0.992;0.959	T	0.69495	-0.5130	10	0.51188	T	0.08	.	14.2768	0.66184	0.0718:0.0:0.9282:0.0	.	20;40;40;40	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	T	40;20;40;40	ENSP00000426786:R40T;ENSP00000426319:R20T;ENSP00000264424:R40T;ENSP00000420842:R40T	ENSP00000264424:R40T	R	+	2	0	GUCY1B3	156915611	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	1.386000	0.46466	-0.141000	0.14075	AGA		0.358	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			3	107	0	0	0	0.004672	0	3	107				
ASIC5	51802	broad.mit.edu	37	4	156763423	156763423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:156763423G>T	ENST00000537611.2	-	6	991	c.945C>A	c.(943-945)tgC>tgA	p.C315*		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	315					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										ATTCCTTCAAGCAACCAGAAG	0.398																																							uc003ipe.1		NA																	0				ovary(2)|skin(1)	3						c.(943-945)TGC>TGA		amiloride-sensitive cation channel 5,							133.0	125.0	128.0					4																	156763423		2203	4300	6503	SO:0001587	stop_gained	51802					integral to membrane|plasma membrane		g.chr4:156763423G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.945C>A	4.37:g.156763423G>T	ENSP00000442477:p.Cys315*						p.C315*	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	6	992	-	all_hematologic(180;0.24)	Renal(120;0.0458)	315			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000537611.2	37	c.945C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121823	0.94429	.	.	ENSG00000256394	ENST00000537611	.	.	.	4.44	1.28	0.21552	.	0.176817	0.40144	N	0.001170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6913	8.1722	0.31262	0.5768:0.0:0.4232:0.0	.	.	.	.	X	315	.	ENSP00000264432:C315X	C	-	3	2	ACCN5	156982873	0.990000	0.36364	0.943000	0.38184	0.976000	0.68499	0.494000	0.22467	0.085000	0.17107	0.650000	0.86243	TGC		0.398	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			21	43	1	0	3.62473e-10	0.001882	5.78149e-10	21	43				
FNIP2	57600	broad.mit.edu	37	4	159753234	159753234	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:159753234G>C	ENST00000264433.6	+	5	573	c.498G>C	c.(496-498)ctG>ctC	p.L166L	FNIP2_ENST00000379346.3_Silent_p.L189L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	166					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTCCACAACTGATGATTAGTA	0.403																																							uc003iqe.3		NA																	0					0						c.(496-498)CTG>CTC		folliculin interacting protein 2							110.0	100.0	103.0					4																	159753234		1848	4090	5938	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159753234G>C	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.498G>C	4.37:g.159753234G>C						FNIP2_uc003iqd.2_Silent_p.L166L	p.L166L	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	5	681	+	all_hematologic(180;0.24)		166					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.498G>C	CCDS47155.1																																																																																				0.403	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		6	36	0	0	0	0.001168	0	6	36				
AADAT	51166	broad.mit.edu	37	4	171010812	171010812	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:171010812C>G	ENST00000337664.4	-	1	306	c.30G>C	c.(28-30)gcG>gcC	p.A10A	AADAT_ENST00000509167.1_Silent_p.A10A|AADAT_ENST00000515480.1_Silent_p.A10A|AADAT_ENST00000353187.2_Silent_p.A10A	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	10					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TGGCTGCGCTCGCTGCCGTGA	0.537											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003isr.2		NA																	0					0						c.(28-30)GCG>GCC		kynurenine aminotransferase II	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						200.0	192.0	195.0					4																	171010812		2203	4300	6503	SO:0001819	synonymous_variant	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:171010812C>G	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.30G>C	4.37:g.171010812C>G			OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1889	AADAT_uc003iss.2_Silent_p.A10A|AADAT_uc003ist.2_Silent_p.A10A	p.A10A	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	1	372	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	10					B3KP84|Q9UL02	Silent	SNP	ENST00000337664.4	37	c.30G>C	CCDS3814.1																																																																																				0.537	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		37	110	0	0	0	0.007835	0	37	110				
CEP44	80817	broad.mit.edu	37	4	175223237	175223237	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:175223237C>G	ENST00000503780.1	+	4	551	c.137C>G	c.(136-138)tCt>tGt	p.S46C	CEP44_ENST00000457424.2_Missense_Mutation_p.S46C|CEP44_ENST00000296519.4_Missense_Mutation_p.S46C|CEP44_ENST00000426172.1_Missense_Mutation_p.S46C	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	46						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ATCAGCTATTCTTTTACCTCA	0.328																																							uc003itr.2		NA																	0					0						c.(136-138)TCT>TGT		HBV PreS1-transactivated protein 3 isoform a							84.0	85.0	85.0					4																	175223237		2203	4299	6502	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175223237C>G	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.137C>G	4.37:g.175223237C>G	ENSP00000423153:p.Ser46Cys					KIAA1712_uc010iro.2_Missense_Mutation_p.S46C|KIAA1712_uc003its.2_RNA	p.S46C	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)	4	551	+		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	46					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.137C>G	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000343	0.54147	.	.	ENSG00000164118	ENST00000503780;ENST00000505124;ENST00000457424;ENST00000514712;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.47528	0.86;0.84;0.89;0.84;0.86	5.18	5.18	0.71444	.	0.273281	0.36338	N	0.002648	T	0.60170	0.2248	L	0.54323	1.7	0.32550	N	0.532552	B;D	0.71674	0.275;0.998	B;P	0.60473	0.046;0.875	T	0.66085	-0.6011	10	0.37606	T	0.19	.	15.8729	0.79136	0.0:0.7925:0.2075:0.0	.	46;46	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	C	46	ENSP00000423153:S46C;ENSP00000389427:S46C;ENSP00000421128:S46C;ENSP00000408221:S46C;ENSP00000296519:S46C	ENSP00000296519:S46C	S	+	2	0	CEP44	175459812	0.972000	0.33761	1.000000	0.80357	0.926000	0.56050	1.961000	0.40432	2.575000	0.86900	0.585000	0.79938	TCT		0.328	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		7	55	0	0	0	0.004482	0	7	55				
NEIL3	55247	broad.mit.edu	37	4	178274629	178274629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:178274629G>T	ENST00000264596.3	+	8	1325	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	403					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)		CAGTACTTTGGAAAGAAAAAC	0.368								Base excision repair (BER), DNA glycosylases																															uc003iut.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1207-1209)GAA>TAA	BER_DNA_glycosylases	nei endonuclease VIII-like 3							58.0	61.0	60.0					4																	178274629		2203	4300	6503	SO:0001587	stop_gained	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.chr4:178274629G>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.1207G>T	4.37:g.178274629G>T	ENSP00000264596:p.Glu403*					NEIL3_uc010irs.2_3'UTR	p.E403*	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)	8	1324	+		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)	403					Q2PPJ3|Q8NG51|Q9NV95	Nonsense_Mutation	SNP	ENST00000264596.3	37	c.1207G>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209832	0.58343	.	.	ENSG00000109674	ENST00000264596	.	.	.	5.09	1.47	0.22746	.	0.546767	0.20776	N	0.085881	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-1.0315	8.4988	0.33146	0.4265:0.0:0.5735:0.0	.	.	.	.	X	403	.	ENSP00000264596:E403X	E	+	1	0	NEIL3	178511623	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	0.275000	0.18698	0.066000	0.16515	0.557000	0.71058	GAA		0.368	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		16	18	1	0	6.31663e-08	0.003163	9.24099e-08	16	18				
TLR3	7098	broad.mit.edu	37	4	187003533	187003533	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:187003533C>G	ENST00000296795.3	+	4	797	c.693C>G	c.(691-693)gtC>gtG	p.V231V	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	231					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGAACAATGTCCAGCTGGGTC	0.428																																							uc003iyq.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(691-693)GTC>GTG		toll-like receptor 3 precursor							117.0	121.0	120.0					4																	187003533		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003533C>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.693C>G	4.37:g.187003533C>G						TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR	p.V231V	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	794	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	231			Lumenal (Potential).|LRR 8.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.693C>G	CCDS3846.1																																																																																				0.428	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			17	98	0	0	0	0.006122	0	17	98				
AHRR	57491	broad.mit.edu	37	5	376812	376812	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:376812A>G	ENST00000505113.1	+	4	388	c.344A>G	c.(343-345)gAg>gGg	p.E115G	AHRR_ENST00000316418.5_Missense_Mutation_p.E115G|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	115	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGTGCTGGAGGGAAGGCTG	0.627																																							uc003jav.2		NA																	0				breast(2)	2						c.(343-345)GAG>GGG		arylhydrocarbon receptor repressor							34.0	40.0	38.0					5																	376812		2143	4260	6403	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:376812A>G	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.344A>G	5.37:g.376812A>G	ENSP00000424601:p.Glu115Gly					AHRR_uc003jaw.2_Missense_Mutation_p.E111G|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.E111G	p.E115G	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		4	388	+			115			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.344A>G	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328337	0.60743	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400	T;T;T	0.52057	1.88;1.88;0.68	2.95	2.95	0.34219	PAS (1);	0.062946	0.64402	D	0.000006	T	0.66906	0.2837	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.69986	-0.4996	10	0.87932	D	0	.	7.695	0.28590	1.0:0.0:0.0:0.0	.	115;115	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	G	115;115;111	ENSP00000424601:E115G;ENSP00000323816:E115G;ENSP00000428893:E111G	ENSP00000323816:E115G	E	+	2	0	AHRR	429812	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.147000	0.50639	1.591000	0.50007	0.533000	0.62120	GAG		0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		16	7	0	0	0	0.004007	0	16	7				
SLC6A19	340024	broad.mit.edu	37	5	1221362	1221362	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:1221362C>T	ENST00000304460.10	+	11	1691	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	545					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGATCATCTTCCTCTTCT	0.567																																							uc003jbw.3		NA																	0					0						c.(1633-1635)ATC>ATT		solute carrier family 6, member 19							175.0	127.0	143.0					5																	1221362		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1221362C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1635C>T	5.37:g.1221362C>T							p.I545I	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1691	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		545			Helical; Name=11; (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.1635C>T	CCDS34130.1																																																																																				0.567	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		10	30	0	0	0	0.006214	0	10	30				
ADCY2	108	broad.mit.edu	37	5	7396557	7396557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:7396557C>A	ENST00000338316.4	+	1	237	c.148C>A	c.(148-150)Ctg>Atg	p.L50M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	50					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						CATCGTCTTCCTGCTGCTCAT	0.711																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(148-150)CTG>ATG		adenylate cyclase 2							53.0	44.0	47.0					5																	7396557		2202	4295	6497	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.chr5:7396557C>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.148C>A	5.37:g.7396557C>A	ENSP00000342952:p.Leu50Met						p.L50M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			1	215	+			50			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.148C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414163	0.62511	.	.	ENSG00000078295	ENST00000338316	T	0.77750	-1.12	3.51	3.51	0.40186	.	0.112755	0.38164	U	0.001791	T	0.69593	0.3128	M	0.61703	1.905	0.80722	D	1	P	0.45078	0.85	B	0.35899	0.213	T	0.69135	-0.5225	10	0.26408	T	0.33	.	12.1742	0.54176	0.0:1.0:0.0:0.0	.	50	Q08462	ADCY2_HUMAN	M	50	ENSP00000342952:L50M	ENSP00000342952:L50M	L	+	1	2	ADCY2	7449557	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.125000	0.42016	1.475000	0.48197	0.305000	0.20034	CTG		0.711	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		46	26	1	0	1.38658e-30	0.00361	2.75877e-30	46	26				
SEMA5A	9037	broad.mit.edu	37	5	9043077	9043077	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9043077G>T	ENST00000382496.5	-	23	3822	c.3157C>A	c.(3157-3159)Cca>Aca	p.P1053T	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1053					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTGAGATGTGGGTTGAAGTAT	0.328																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3157-3159)CCA>ACA		semaphorin 5A precursor							220.0	214.0	216.0					5																	9043077		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9043077G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3157C>A	5.37:g.9043077G>T	ENSP00000371936:p.Pro1053Thr						p.P1053T	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			23	3869	-			1053			Cytoplasmic (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.3157C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243291	0.79912	.	.	ENSG00000112902	ENST00000382496	T	0.36878	1.23	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30707	-0.9969	10	0.36615	T	0.2	.	15.1536	0.72723	0.0:0.0:1.0:0.0	.	1053	Q13591	SEM5A_HUMAN	T	1053	ENSP00000371936:P1053T	ENSP00000371936:P1053T	P	-	1	0	SEMA5A	9096077	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.824000	0.92023	2.716000	0.92895	0.655000	0.94253	CCA		0.328	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			7	53	1	0	8.12818e-05	0.001984	0.000101263	7	53				
SEMA5A	9037	broad.mit.edu	37	5	9063218	9063218	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9063218C>A	ENST00000382496.5	-	18	2965		c.e18-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGAAAGCCCTGCCAAGGAA	0.522																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e18-1		semaphorin 5A precursor							29.0	27.0	27.0					5																	9063218		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063218C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2300-1G>T	5.37:g.9063218C>A							p.G767_splice	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			18	3012	-								D3DTC6|O60408|Q1RLL9	Splice_Site	SNP	ENST00000382496.5	37	c.2300_splice	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474902	0.43942	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2182	0.86950	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA5A	9116218	0.992000	0.36948	1.000000	0.80357	0.299000	0.27559	1.987000	0.40687	2.659000	0.90383	0.655000	0.94253	.		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Intron	5	22	1	0	0.000602214	0.000602	0.000715729	5	22				
SEMA5A	9037	broad.mit.edu	37	5	9122858	9122858	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9122858A>T	ENST00000382496.5	-	14	2356	c.1691T>A	c.(1690-1692)cTc>cAc	p.L564H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	564	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTTCGACAGAGGCAGGATCC	0.652																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1690-1692)CTC>CAC		semaphorin 5A precursor							61.0	63.0	63.0					5																	9122858		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122858A>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1691T>A	5.37:g.9122858A>T	ENSP00000371936:p.Leu564His						p.L564H	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			14	2403	-			564			Extracellular (Potential).|TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1691T>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.465062	0.63513	.	.	ENSG00000112902	ENST00000382496	T	0.18502	2.21	4.95	4.95	0.65309	.	0.069760	0.64402	D	0.000013	T	0.28797	0.0714	M	0.72894	2.215	0.53005	D	0.999964	P	0.44006	0.824	P	0.47470	0.548	T	0.04229	-1.0967	10	0.66056	D	0.02	.	12.8667	0.57944	1.0:0.0:0.0:0.0	.	564	Q13591	SEM5A_HUMAN	H	564	ENSP00000371936:L564H	ENSP00000371936:L564H	L	-	2	0	SEMA5A	9175858	1.000000	0.71417	0.991000	0.47740	0.424000	0.31475	4.818000	0.62657	1.990000	0.58119	0.528000	0.53228	CTC		0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			7	127	0	0	0	0.00308	0	7	127				
MARCH6	10299	broad.mit.edu	37	5	10417481	10417481	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:10417481C>T	ENST00000274140.5	+	22	2380	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	MARCH6_ENST00000449913.2_Missense_Mutation_p.P702S|MARCH6_ENST00000510792.1_Missense_Mutation_p.P448S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P645S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	750					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTGAGGGTTCCCTTGGATCA	0.453																																							uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(2248-2250)CCC>TCC		membrane-associated ring finger (C3HC4) 6							204.0	199.0	201.0					5																	10417481		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10417481C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2248C>T	5.37:g.10417481C>T	ENSP00000274140:p.Pro750Ser					MARCH6_uc011cmu.1_Missense_Mutation_p.P702S|MARCH6_uc003jeu.1_Missense_Mutation_p.P448S|MARCH6_uc011cmv.1_Missense_Mutation_p.P645S	p.P750S	NM_005885	NP_005876	O60337	MARH6_HUMAN			22	2431	+			750			Extracellular (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2248C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552182	0.65311	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.47177	1.87;0.85;1.87;0.87	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.66439	2.03	0.80722	D	1	B;B;B;B	0.31548	0.121;0.121;0.328;0.098	B;B;B;B	0.30495	0.069;0.045;0.116;0.03	T	0.41610	-0.9499	10	0.22706	T	0.39	-20.1495	17.5484	0.87869	0.0:1.0:0.0:0.0	.	645;702;330;750	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	702;645;750;448	ENSP00000414643:P702S;ENSP00000425930:P645S;ENSP00000274140:P750S;ENSP00000424512:P448S	ENSP00000274140:P750S	P	+	1	0	MARCH6	10470481	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.419000	0.80179	2.584000	0.87258	0.650000	0.86243	CCC		0.453	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		6	195	0	0	0	0.00308	0	6	195				
DNAH5	1767	broad.mit.edu	37	5	13766226	13766226	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:13766226C>T	ENST00000265104.4	-	59	10064	c.9960G>A	c.(9958-9960)atG>atA	p.M3320I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3320	Stalk. {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)					CCATGATCCGCATGATGAGGT	0.537									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9958-9960)ATG>ATA		dynein, axonemal, heavy chain 5							111.0	109.0	110.0					5																	13766226		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.chr5:13766226C>T	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.9960G>A	5.37:g.13766226C>T	ENSP00000265104:p.Met3320Ile					DNAH5_uc003jfc.2_5'UTR	p.M3320I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10002	-	Lung NSC(4;0.00476)		3320			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9960G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882505	0.91740	.	.	ENSG00000039139	ENST00000265104	T	0.55588	0.51	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.117427	0.85682	D	0.000000	T	0.77678	0.4166	H	0.94183	3.505	0.80722	D	1	B	0.26512	0.151	P	0.45119	0.47	T	0.78628	-0.2130	10	0.54805	T	0.06	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3320	Q8TE73	DYH5_HUMAN	I	3320	ENSP00000265104:M3320I	ENSP00000265104:M3320I	M	-	3	0	DNAH5	13819226	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	ATG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		125	97	0	0	0	0.00361	0	125	97				
DNAH5	1767	broad.mit.edu	37	5	13876872	13876872	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:13876872T>C	ENST00000265104.4	-	22	3421	c.3317A>G	c.(3316-3318)tAt>tGt	p.Y1106C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1106	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)					ATTCTTATAATAGTTCTTGGT	0.343									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3316-3318)TAT>TGT		dynein, axonemal, heavy chain 5							92.0	100.0	97.0					5																	13876872		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.chr5:13876872T>C	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.3317A>G	5.37:g.13876872T>C	ENSP00000265104:p.Tyr1106Cys						p.Y1106C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			22	3359	-	Lung NSC(4;0.00476)		1106			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3317A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098331	0.56183	.	.	ENSG00000039139	ENST00000265104	T	0.27104	1.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	T	0.62501	-0.6841	10	0.87932	D	0	.	15.8924	0.79309	0.0:0.0:0.0:1.0	.	1106	Q8TE73	DYH5_HUMAN	C	1106	ENSP00000265104:Y1106C	ENSP00000265104:Y1106C	Y	-	2	0	DNAH5	13929872	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.678000	0.68153	2.219000	0.72066	0.533000	0.62120	TAT		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	91	0	0	0	0.003163	0	15	91				
MARCH11	441061	broad.mit.edu	37	5	16067773	16067773	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:16067773G>T	ENST00000332432.8	-	4	1215	c.1016C>A	c.(1015-1017)tCc>tAc	p.S339Y		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	339					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCTACTTGTGGAAGACTCTCC	0.483																																							uc003jfo.2		NA																	0					0						c.(1015-1017)TCC>TAC		membrane-associated ring finger (C3HC4) 11							97.0	96.0	96.0					5																	16067773		1931	4139	6070	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067773G>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1016C>A	5.37:g.16067773G>T	ENSP00000333181:p.Ser339Tyr					MARCH11_uc010itw.1_Missense_Mutation_p.S95Y	p.S339Y	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1229	-			339					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.1016C>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448508	0.63178	.	.	ENSG00000183654	ENST00000332432	T	0.20069	2.1	5.43	4.56	0.56223	.	0.000000	0.43579	D	0.000548	T	0.29620	0.0739	L	0.38175	1.15	0.50632	D	0.999887	D	0.61697	0.99	P	0.54759	0.76	T	0.04203	-1.0969	10	0.72032	D	0.01	-8.3054	14.5232	0.67867	0.071:0.0:0.929:0.0	.	339	A6NNE9	MARHB_HUMAN	Y	339	ENSP00000333181:S339Y	ENSP00000333181:S339Y	S	-	2	0	MARCH11	16120773	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.588000	0.60999	1.418000	0.47098	-0.145000	0.13849	TCC		0.483	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		15	70	1	0	1.05317e-09	0.00245	1.65622e-09	15	70				
CDH12	1010	broad.mit.edu	37	5	22078722	22078722	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:22078722G>T	ENST00000382254.1	-	5	1150	c.64C>A	c.(64-66)Cca>Aca	p.P22T	CDH12_ENST00000504376.2_Missense_Mutation_p.P22T|CDH12_ENST00000522262.1_Missense_Mutation_p.P22T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	22					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P22A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTTGTAGTGGTGTTAGGAGA	0.458										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(64-66)CCA>ACA		cadherin 12, type 2 preproprotein							177.0	178.0	177.0					5																	22078722		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.chr5:22078722G>T	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.64C>A	5.37:g.22078722G>T	ENSP00000371689:p.Pro22Thr	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.P22T|CDH12_uc003jgk.2_Missense_Mutation_p.P22T	p.P22T	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	522	-			22					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.64C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287921	0.40494	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55930	0.56;0.56;0.49	5.67	5.67	0.87782	.	0.167787	0.53938	D	0.000049	T	0.28797	0.0714	N	0.08118	0	0.35353	D	0.787535	B;B	0.30068	0.267;0.267	B;B	0.22386	0.039;0.039	T	0.38178	-0.9673	10	0.13108	T	0.6	.	13.0309	0.58840	0.0733:0.0:0.9267:0.0	.	22;22	B7Z2U6;P55289	.;CAD12_HUMAN	T	22	ENSP00000423577:P22T;ENSP00000371689:P22T;ENSP00000428786:P22T	ENSP00000371689:P22T	P	-	1	0	CDH12	22114479	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.759000	0.68785	2.694000	0.91930	0.555000	0.69702	CCA		0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		61	241	1	0	2.40885e-21	0.00361	4.68174e-21	61	241				
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(127-129)ATG>ATT		PR domain containing 9							212.0	197.0	201.0					5																	23509638		1870	4120	5990	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.chr5:23509638G>T	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.129G>T	5.37:g.23509638G>T	ENSP00000296682:p.Met43Ile	HNSCC(3;0.000094)					p.M43I	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			3	311	+			43			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.129G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771536	0.49680	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01629	4.72;4.72	2.76	2.76	0.32466	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.05777	0.0151	L	0.48362	1.52	0.24772	N	0.992867	P	0.49559	0.925	D	0.65140	0.932	T	0.24621	-1.0155	9	0.87932	D	0	-1.2549	9.1521	0.36969	0.0:0.0:1.0:0.0	.	43	Q9NQV7	PRDM9_HUMAN	I	43	ENSP00000425471:M43I;ENSP00000296682:M43I	ENSP00000296682:M43I	M	+	3	0	PRDM9	23545395	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.247000	0.32815	1.840000	0.53500	0.609000	0.83330	ATG		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		30	196	1	0	5.45727e-16	0.008361	9.89084e-16	30	196				
TARS	6897	broad.mit.edu	37	5	33453497	33453497	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33453497G>C	ENST00000265112.3	+	4	744	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TARS_ENST00000502553.1_Missense_Mutation_p.E145Q|TARS_ENST00000541634.1_Missense_Mutation_p.E41Q|TARS_ENST00000455217.2_Missense_Mutation_p.E178Q|TARS_ENST00000414361.2_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	145					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTCAAGTTTGAGGATGAGGA	0.453																																							uc003jhy.2		NA																	0				ovary(2)	2						c.(433-435)GAG>CAG		threonyl-tRNA synthetase	L-Threonine(DB00156)						114.0	117.0	116.0					5																	33453497		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33453497G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.433G>C	5.37:g.33453497G>C	ENSP00000265112:p.Glu145Gln					TARS_uc011cob.1_Missense_Mutation_p.E133Q|TARS_uc010iup.1_Missense_Mutation_p.E86Q|TARS_uc011coc.1_Missense_Mutation_p.E166Q|TARS_uc003jhz.2_Missense_Mutation_p.E41Q|TARS_uc011cod.1_Intron	p.E145Q	NM_152295	NP_689508	P26639	SYTC_HUMAN			4	728	+			145					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.433G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946768	0.53186	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.78	5.78	0.91487	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);Beta-grasp fold, ferredoxin-type (1);	0.092091	0.85682	D	0.000000	T	0.09992	0.0245	L	0.42529	1.33	0.80722	D	1	B;B;B	0.22800	0.075;0.005;0.011	B;B;B	0.24006	0.037;0.05;0.023	T	0.09143	-1.0688	10	0.66056	D	0.02	-20.6822	20.0713	0.97726	0.0:0.0:1.0:0.0	.	178;41;145	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	Q	145;145;41;178	ENSP00000424387:E145Q;ENSP00000265112:E145Q;ENSP00000438469:E41Q;ENSP00000387710:E178Q	ENSP00000265112:E145Q	E	+	1	0	TARS	33489254	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.869000	0.99810	2.751000	0.94390	0.585000	0.79938	GAG		0.453	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		12	125	0	0	0	0.001368	0	12	125				
ADAMTS12	81792	broad.mit.edu	37	5	33561252	33561253	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33561252_33561253CC>AA	ENST00000504830.1	-	20	4339_4340	c.4004_4005GG>TT	c.(4003-4005)tGG>tTT	p.W1335F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1250F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1335	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACCCTTCTCCAGTAGGCCCC	0.589										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4003-4005)TGG>TTT		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561252_33561253CC>AA	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4004_4005delinsAA	5.37:g.33561252_33561253delinsAA	ENSP00000422554:p.Trp1335Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.W1250F	p.W1335F	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4167_4168	-			1335			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	DNP	ENST00000504830.1	37	c.4004_4005GG>TT	CCDS34140.1																																																																																				0.589	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		11	74	0	0	0	0.004672	0	11	74				
ADAMTS12	81792	broad.mit.edu	37	5	33576225	33576225	+	Silent	SNP	G	G	T	rs374664813		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33576225G>T	ENST00000504830.1	-	19	4241	c.3906C>A	c.(3904-3906)gcC>gcA	p.A1302A	ADAMTS12_ENST00000352040.3_Silent_p.A1217A|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1302	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTAATTGGAGGCATTTAGCA	0.473										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3904-3906)GCC>GCA		ADAM metallopeptidase with thrombospondin type 1		G		0,4406		0,0,2203	151.0	152.0	152.0		3906	-0.2	1.0	5		152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS12	NM_030955.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		1302/1595	33576225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576225G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3906C>A	5.37:g.33576225G>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.A1217A	p.A1302A	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	4069	-			1302			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3906C>A	CCDS34140.1																																																																																				0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		46	252	1	0	6.61955e-31	0.00361	1.319e-30	46	252				
ADAMTS12	81792	broad.mit.edu	37	5	33683200	33683200	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33683200C>A	ENST00000504830.1	-	5	1173	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G280W|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	280	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G280R(1)|p.G280W(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGAACAACCCAGTGACCTAG	0.373										HNSCC(64;0.19)																													uc003jia.1		NA																	2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(838-840)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							88.0	79.0	82.0					5																	33683200		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683200C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.838G>T	5.37:g.33683200C>A	ENSP00000422554:p.Gly280Trp	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G280W	p.G280W	NM_030955	NP_112217	P58397	ATS12_HUMAN			5	1001	-			280			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.838G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570755	0.86542	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.63744	-0.06;-0.06	5.42	5.42	0.78866	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82248	-0.0551	10	0.87932	D	0	.	19.2188	0.93788	0.0:1.0:0.0:0.0	.	280;280	P58397-3;P58397	.;ATS12_HUMAN	W	280	ENSP00000422554:G280W;ENSP00000344847:G280W	ENSP00000344847:G280W	G	-	1	0	ADAMTS12	33718957	1.000000	0.71417	0.992000	0.48379	0.819000	0.46315	7.494000	0.81503	2.527000	0.85204	0.637000	0.83480	GGG		0.373	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		12	36	1	0	1.49906e-05	0.00245	1.9584e-05	12	36				
SLC45A2	51151	broad.mit.edu	37	5	33947441	33947441	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33947441C>A	ENST00000296589.4	-	6	1341	c.1195G>T	c.(1195-1197)Ggt>Tgt	p.G399C	SLC45A2_ENST00000342059.3_Missense_Mutation_p.G340C|SLC45A2_ENST00000382102.3_Missense_Mutation_p.G399C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	399					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.G399C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AAGTAAAGACCCTTTAATCCA	0.453																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1195-1197)GGT>TGT		membrane-associated transporter protein isoform							109.0	111.0	110.0					5																	33947441		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947441C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1195G>T	5.37:g.33947441C>A	ENSP00000296589:p.Gly399Cys					SLC45A2_uc003jie.2_Missense_Mutation_p.G399C	p.G399C	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1287	-			399			Helical; Name=9; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1195G>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654428	0.88056	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.048947	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.72075	0.976;0.932	D	0.94864	0.8024	10	0.38643	T	0.18	-14.3093	19.6445	0.95771	0.0:1.0:0.0:0.0	.	399;399	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	C	399;340;399;224	ENSP00000296589:G399C;ENSP00000341014:G340C;ENSP00000371534:G399C;ENSP00000424010:G224C	ENSP00000296589:G399C	G	-	1	0	SLC45A2	33983198	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.830000	0.69324	2.646000	0.89796	0.655000	0.94253	GGT		0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		86	66	1	0	3.3814e-41	0.00361	6.84951e-41	86	66				
TTC23L	153657	broad.mit.edu	37	5	34845617	34845617	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:34845617C>T	ENST00000505624.1	+	3	197	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	32										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATCCCAGCTCACCAGCAAAC	0.458																																							uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(94-96)CAC>TAC		tetratricopeptide repeat domain 23-like							108.0	104.0	105.0					5																	34845617		1944	4149	6093	SO:0001583	missense	153657						binding	g.chr5:34845617C>T		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.94C>T	5.37:g.34845617C>T	ENSP00000422188:p.His32Tyr						p.H32Y	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			3	197	+			32					Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.94C>T	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111908	0.06881	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.11821	2.74	5.12	-1.82	0.07857	.	1.240420	0.05508	N	0.559748	T	0.06416	0.0165	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33929	-0.9849	10	0.06757	T	0.87	-1.6023	0.9874	0.01449	0.1454:0.2962:0.2848:0.2735	.	32	Q6PF05	TT23L_HUMAN	Y	32	ENSP00000422188:H32Y	ENSP00000425242:H32Y	H	+	1	0	TTC23L	34881374	0.000000	0.05858	0.004000	0.12327	0.509000	0.34042	-0.799000	0.04560	-0.142000	0.11354	0.650000	0.86243	CAC		0.458	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		5	91	0	0	0	0.000602	0	5	91				
UGT3A2	167127	broad.mit.edu	37	5	36049077	36049077	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:36049077A>T	ENST00000282507.3	-	4	858	c.757T>A	c.(757-759)Ttt>Att	p.F253I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.F219I|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	253					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAAAGGCAAAGTCAGAGTTA	0.418																																							uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(757-759)TTT>ATT		UDP glycosyltransferase 3 family, polypeptide A2							147.0	143.0	144.0					5																	36049077		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049077A>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.757T>A	5.37:g.36049077A>T	ENSP00000282507:p.Phe253Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.F219I|UGT3A2_uc011cot.1_Intron	p.F253I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	850	-	all_lung(31;0.000179)		253			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.757T>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955322	0.73902	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61040	0.14;0.14	3.45	3.45	0.39498	.	0.074582	0.53938	D	0.000054	T	0.78892	0.4355	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.97110	0.922;1.0	D	0.83537	0.0094	10	0.87932	D	0	.	11.8643	0.52484	1.0:0.0:0.0:0.0	.	219;253	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	253;219	ENSP00000282507:F253I;ENSP00000427404:F219I	ENSP00000282507:F253I	F	-	1	0	UGT3A2	36084834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.893000	0.48633	1.819000	0.53055	0.533000	0.62120	TTT		0.418	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		22	106	0	0	0	0.00278	0	22	106				
C5orf42	65250	broad.mit.edu	37	5	37169174	37169174	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:37169174C>A	ENST00000508244.1	-	33	7045	c.6952G>T	c.(6952-6954)Gat>Tat	p.D2318Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.D2318Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1198Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2318						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACATATTGATCCAAGTTCACA	0.373																																							uc011cpa.1		NA																	0				ovary(4)|breast(2)|skin(1)	7						c.(6952-6954)GAT>TAT		hypothetical protein LOC65250							145.0	149.0	148.0					5																	37169174		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169174C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6952G>T	5.37:g.37169174C>A	ENSP00000421690:p.Asp2318Tyr					C5orf42_uc011coy.1_Missense_Mutation_p.D818Y|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D1393Y|C5orf42_uc003jkr.1_Missense_Mutation_p.D351Y	p.D2318Y	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7183	-	all_lung(31;0.000616)		2318					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6952G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859606	0.71834	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.32515	1.51;1.51;1.45;1.46	5.43	4.56	0.56223	.	0.715854	0.12830	N	0.435737	T	0.49762	0.1576	L	0.54323	1.7	0.28065	N	0.932828	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.41698	-0.9494	10	0.66056	D	0.02	.	12.435	0.55595	0.0:0.9222:0.0:0.0778	.	2318;1198	E9PH94;Q9H799	.;CE042_HUMAN	Y	2318;2318;1198;1366;1198	ENSP00000421690:D2318Y;ENSP00000389014:D2318Y;ENSP00000274258:D1198Y;ENSP00000424223:D1366Y	ENSP00000274258:D1198Y	D	-	1	0	C5orf42	37204931	0.016000	0.18221	0.046000	0.18839	0.974000	0.67602	0.651000	0.24873	1.284000	0.44531	0.655000	0.94253	GAT		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		26	172	1	0	2.79863e-10	0.004656	4.48516e-10	26	172				
MROH2B	133558	broad.mit.edu	37	5	41052593	41052593	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:41052593G>T	ENST00000399564.4	-	12	1654	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	402																	GTTGCAAACTGGGAGAAGACA	0.388																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(1204-1206)CAG>AAG		HEAT repeat family member 7B2							110.0	105.0	107.0					5																	41052593		1882	4104	5986	SO:0001583	missense	133558						binding	g.chr5:41052593G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1204C>A	5.37:g.41052593G>T	ENSP00000382476:p.Gln402Lys					HEATR7B2_uc003jmi.3_Intron	p.Q402K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1694	-			402					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1204C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651449	0.67472	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.64803	-0.12	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.49916	D	0.000130	T	0.76428	0.3986	M	0.73962	2.25	0.34719	D	0.728582	D	0.61080	0.989	D	0.70487	0.969	T	0.78788	-0.2067	10	0.21540	T	0.41	.	14.9307	0.70914	0.0:0.0:1.0:0.0	.	402	Q7Z745	HTRB2_HUMAN	K	106;402	ENSP00000382476:Q402K	ENSP00000296803:Q106K	Q	-	1	0	HEATR7B2	41088350	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.457000	0.60088	2.581000	0.87130	0.650000	0.86243	CAG		0.388	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		17	122	1	0	3.32936e-07	0.006122	4.72157e-07	17	122				
HCN1	348980	broad.mit.edu	37	5	45262343	45262343	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:45262343G>T	ENST00000303230.4	-	8	2410	c.2353C>A	c.(2353-2355)Cca>Aca	p.P785T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	785					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P785T(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGGAGAGTGGCCTGACTTCC	0.627																																							uc003jok.2		NA																	2	Substitution - Missense(2)		lung(1)|liver(1)	ovary(1)	1						c.(2353-2355)CCA>ACA		hyperpolarization activated cyclic							72.0	69.0	70.0					5																	45262343		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262343G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2353C>A	5.37:g.45262343G>T	ENSP00000307342:p.Pro785Thr						p.P785T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2378	-			785			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2353C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247317	0.39697	.	.	ENSG00000164588	ENST00000303230	T	0.76968	-1.06	5.02	4.13	0.48395	.	0.091207	0.47093	D	0.000250	T	0.61299	0.2336	N	0.19112	0.55	0.42587	D	0.993234	P	0.35433	0.501	B	0.25140	0.058	T	0.60672	-0.7217	10	0.30078	T	0.28	.	15.5847	0.76473	0.0:0.1384:0.8616:0.0	.	785	O60741	HCN1_HUMAN	T	785	ENSP00000307342:P785T	ENSP00000307342:P785T	P	-	1	0	HCN1	45298100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.359000	0.66074	1.211000	0.43351	0.655000	0.94253	CCA		0.627	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		11	72	1	0	0.00010058	0.001368	0.000124382	11	72				
GZMA	3001	broad.mit.edu	37	5	54403630	54403630	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:54403630G>T	ENST00000274306.6	+	3	259	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGGAACAAAAGGTCCCAGGTC	0.388																																							uc003jpm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(223-225)AGG>ATG		granzyme A precursor							108.0	104.0	105.0					5																	54403630		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403630G>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.224G>T	5.37:g.54403630G>T	ENSP00000274306:p.Arg75Met						p.R75M	NM_006144	NP_006135	P12544	GRAA_HUMAN			3	261	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	75			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.224G>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	5.494	0.276062	0.10403	.	.	ENSG00000145649	ENST00000274306	D	0.89123	-2.47	5.24	-10.5	0.00291	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.183850	0.01213	N	0.007881	T	0.81754	0.4889	L	0.33710	1.025	0.09310	N	1	P	0.45569	0.861	B	0.39217	0.294	T	0.81346	-0.0974	10	0.56958	D	0.05	.	12.7026	0.57043	0.3255:0.2444:0.43:0.0	.	75	P12544	GRAA_HUMAN	M	75	ENSP00000274306:R75M	ENSP00000274306:R75M	R	+	2	0	GZMA	54439387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.324000	0.01116	-4.153000	0.00069	-1.623000	0.00790	AGG		0.388	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		9	21	1	0	1.08611e-07	0.000978	1.56675e-07	9	21				
VCAN	1462	broad.mit.edu	37	5	82816151	82816151	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:82816151C>G	ENST00000265077.3	+	7	2591	c.2026C>G	c.(2026-2028)Cta>Gta	p.L676V	VCAN_ENST00000342785.4_Missense_Mutation_p.L676V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L628V|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	676	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTATCCTTCTCTACAAACAGA	0.328																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2026-2028)CTA>GTA		versican isoform 1 precursor							52.0	53.0	53.0					5																	82816151		2193	4297	6490	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816151C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2026C>G	5.37:g.82816151C>G	ENSP00000265077:p.Leu676Val					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L676V|VCAN_uc003kik.3_Intron	p.L676V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2382	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	676			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2026C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.431841	0.01108	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.17213	2.29;2.29;2.29	5.81	0.824	0.18818	.	0.848144	0.10289	N	0.692618	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.23018	0.043;0.019	T	0.43686	-0.9376	10	0.13470	T	0.59	.	7.7485	0.28883	0.0:0.5318:0.0:0.4682	.	676;676	P13611-3;P13611	.;CSPG2_HUMAN	V	676;676;628	ENSP00000265077:L676V;ENSP00000342768:L676V;ENSP00000425959:L628V	ENSP00000265077:L676V	L	+	1	2	VCAN	82851907	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.024000	0.12435	-0.142000	0.11354	0.655000	0.94253	CTA		0.328	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		21	35	0	0	0	0.001216	0	21	35				
GPR98	84059	broad.mit.edu	37	5	89949444	89949444	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:89949444A>G	ENST00000405460.2	+	20	4149	c.4053A>G	c.(4051-4053)acA>acG	p.T1351T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1351					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)		GGAATAATACAATTGCCAACT	0.458																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4051-4053)ACA>ACG		G protein-coupled receptor 98 precursor							104.0	97.0	99.0					5																	89949444		1917	4126	6043	SO:0001819	synonymous_variant	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.chr5:89949444A>G	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.4053A>G	5.37:g.89949444A>G						GPR98_uc003kjt.2_5'UTR	p.T1351T	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)	20	4149	+		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)	1351			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.4053A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	1.717	-0.497531	0.04291	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.38	0.232	0.15381	.	.	.	.	.	T	0.41743	0.1172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	1.3819	0.02232	0.4:0.2734:0.207:0.1197	.	.	.	.	D	940	.	.	N	+	1	0	GPR98	89985200	0.037000	0.19845	0.996000	0.52242	0.335000	0.28730	-0.057000	0.11768	-0.107000	0.12088	-0.340000	0.08031	AAT		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	14	0	0	0	0.000602	0	4	14				
ERAP2	64167	broad.mit.edu	37	5	96232566	96232566	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:96232566A>T	ENST00000437043.3	+	9	2213	c.1502A>T	c.(1501-1503)aAt>aTt	p.N501I	ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Splice_Site_p.N456I|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	501					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGTCTGTCAAATGTAAGTCAT	0.323																																							uc003kmq.2		NA																	0					0						c.(1501-1503)AAT>ATT		endoplasmic reticulum aminopeptidase 2							107.0	116.0	113.0					5																	96232566		2203	4298	6501	SO:0001630	splice_region_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96232566A>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1503+1A>T	5.37:g.96232566A>T						uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.N501I|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.N450I|ERAP2_uc003kmu.2_RNA	p.N501I	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	9	2212	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	501			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1502A>T	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.321758|2.321758	0.41096|0.41096	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000508077|ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.|T;T;T;T	.|0.04917	.|3.53;3.53;3.53;3.53	5.01|5.01	0.00135|0.00135	0.14045|0.14045	.|.	.|1.142920	.|0.06874	.|U	.|0.801231	T|T	0.12178|0.12178	0.0296|0.0296	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B	.|0.33964	.|0.434;0.308	.|B;B	.|0.40901	.|0.343;0.186	T|T	0.13764|0.13764	-1.0497|-1.0497	5|10	.|0.56958	.|D	.|0.05	.|.	8.5964|8.5964	0.33718|0.33718	0.6924:0.0:0.3076:0.0|0.6924:0.0:0.3076:0.0	.|.	.|456;501	.|Q6P179-3;Q6P179	.|.;ERAP2_HUMAN	N|I	163|501;501;501;456	.|ENSP00000400376:N501I;ENSP00000421175:N501I;ENSP00000421849:N501I;ENSP00000369235:N456I	.|ENSP00000369235:N456I	K|N	+|+	3|2	2|0	ERAP2|ERAP2	96258322|96258322	0.990000|0.990000	0.36364|0.36364	0.032000|0.032000	0.17829|0.17829	0.389000|0.389000	0.30415|0.30415	3.433000|3.433000	0.52834|0.52834	-0.155000|-0.155000	0.11098|0.11098	-0.371000|-0.371000	0.07208|0.07208	AAA|AAT		0.323	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Missense_Mutation	9	118	0	0	0	0.001368	0	9	118				
FER	2241	broad.mit.edu	37	5	108134001	108134001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:108134001A>T	ENST00000281092.4	+	3	502	c.118A>T	c.(118-120)Aaa>Taa	p.K40*	FER_ENST00000536402.1_Nonsense_Mutation_p.K40*|FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	40	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAAAGTGATAAAGAATATGC	0.343																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(118-120)AAA>TAA		fer (fps/fes related) tyrosine kinase							85.0	89.0	88.0					5																	108134001		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108134001A>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.118A>T	5.37:g.108134001A>T	ENSP00000281092:p.Lys40*					FER_uc011cve.1_Intron|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.K40*|FER_uc011cvg.1_5'UTR	p.K40*	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	3	502	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	40			Important for interaction with membranes containing phosphoinositides.|FCH.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.118A>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	A	42	9.267472	0.99120	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-23.1826	15.5539	0.76177	1.0:0.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000281092:K40X	K	+	1	0	FER	108161900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.130000	0.65690	0.533000	0.62120	AAA		0.343	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		8	18	0	0	0	0.004482	0	8	18				
TSLP	85480	broad.mit.edu	37	5	110407649	110407649	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:110407649C>A	ENST00000344895.3	+	1	260	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K	TSLP_ENST00000420978.2_Missense_Mutation_p.Q21K|TSLP_ENST00000379706.4_5'Flank	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	21						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCATCTTACAACTTGTAGG	0.388																																							uc003kpb.2		NA																	0					0						c.(61-63)CAA>AAA		thymic stromal lymphopoietin isoform 1							202.0	186.0	191.0					5																	110407649		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110407649C>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.61C>A	5.37:g.110407649C>A	ENSP00000339804:p.Gln21Lys					TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank	p.Q21K	NM_033035	NP_149024	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	1	260	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	21					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.61C>A	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850251	0.51270	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	5.81	5.81	0.92471	.	0.139307	0.33610	N	0.004727	T	0.66645	0.2810	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.68595	-0.5367	9	0.87932	D	0	-15.3568	15.5737	0.76359	0.0:1.0:0.0:0.0	.	21	Q969D9	TSLP_HUMAN	K	21	.	ENSP00000339804:Q21K	Q	+	1	0	TSLP	110435548	1.000000	0.71417	0.994000	0.49952	0.470000	0.32858	3.545000	0.53648	2.748000	0.94277	0.655000	0.94253	CAA		0.388	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		32	45	1	0	1.30897e-18	0.001786	2.47948e-18	32	45				
SEMA6A	57556	broad.mit.edu	37	5	115783231	115783231	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:115783231G>C	ENST00000343348.6	-	19	2958	c.2171C>G	c.(2170-2172)aCg>aGg	p.T724R	SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151R|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724R|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	724					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATGAGTGGCGTGAGGATGGC	0.632																																							uc010jck.2		NA																	0				ovary(2)	2						c.(2170-2172)ACG>AGG		sema domain, transmembrane domain (TM), and							162.0	173.0	169.0					5																	115783231		2193	4290	6483	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783231G>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2171C>G	5.37:g.115783231G>C	ENSP00000345512:p.Thr724Arg					SEMA6A_uc003krx.3_Missense_Mutation_p.T741R|SEMA6A_uc011cwe.1_Missense_Mutation_p.T103R|SEMA6A_uc003krv.3_Missense_Mutation_p.T151R|SEMA6A_uc003krw.3_Missense_Mutation_p.T201R|SEMA6A_uc010jcj.2_Missense_Mutation_p.T268R	p.T724R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2880	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	724			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2171C>G	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.539292|3.539292	0.65085|0.65085	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.54675	.|2.14;2.15;0.56;2.49;0.63;2.14	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.183477	.|0.47852	.|D	.|0.000209	T|T	0.70692|0.70692	0.3253|0.3253	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.918;0.999;0.996;0.999;0.999	T|T	0.73849|0.73849	-0.3853|-0.3853	5|10	.|0.62326	.|D	.|0.03	.|.	17.5933|17.5933	0.88004|0.88004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;724;268;741;201;151	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	G|R	239|724;741;151;201;103;724	.|ENSP00000345512:T724R;ENSP00000257414:T741R;ENSP00000422997:T151R;ENSP00000282394:T201R;ENSP00000425364:T103R;ENSP00000424388:T724R	.|ENSP00000257414:T741R	R|T	-|-	1|2	0|0	SEMA6A|SEMA6A	115811130|115811130	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	9.372000|9.372000	0.97165|0.97165	2.244000|2.244000	0.73946|0.73946	0.603000|0.603000	0.83216|0.83216	CGC|ACG		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	201	0	0	0	0.000602	0	5	201				
DMXL1	1657	broad.mit.edu	37	5	118580152	118580152	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:118580152G>C	ENST00000311085.8	+	42	8820	c.8740G>C	c.(8740-8742)Gac>Cac	p.D2914H	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2935H|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2914										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATATGTATTTGACCTTTGTCA	0.423																																							uc003ksd.2		NA																	0				ovary(2)	2						c.(8740-8742)GAC>CAC		Dmx-like 1							106.0	99.0	101.0					5																	118580152		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118580152G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8740G>C	5.37:g.118580152G>C	ENSP00000309690:p.Asp2914His					DMXL1_uc010jcl.1_Missense_Mutation_p.D2935H|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Missense_Mutation_p.D88H	p.D2914H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	42	8921	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2914			WD 14.			Missense_Mutation	SNP	ENST00000311085.8	37	c.8740G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326012	0.81580	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.02525	4.26;4.26	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059040	0.64402	D	0.000001	T	0.18383	0.0441	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.984;0.985	T	0.00293	-1.1841	10	0.87932	D	0	-12.3738	19.1497	0.93482	0.0:0.0:1.0:0.0	.	2935;2914	F5H269;Q9Y485	.;DMXL1_HUMAN	H	2914;2935	ENSP00000309690:D2914H;ENSP00000439479:D2935H	ENSP00000309690:D2914H	D	+	1	0	DMXL1	118608051	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.534000	0.82004	2.520000	0.84964	0.585000	0.79938	GAC		0.423	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		8	37	0	0	0	0.00308	0	8	37				
FTMT	94033	broad.mit.edu	37	5	121188138	121188138	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:121188138G>T	ENST00000321339.1	+	1	489	c.480G>T	c.(478-480)atG>atT	p.M160I		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	160	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCATGCCATGGAGTGTGCTC	0.557																																							uc003kss.2		NA																	0				ovary(1)	1						c.(478-480)ATG>ATT		ferritin mitochondrial precursor							107.0	101.0	103.0					5																	121188138		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188138G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.480G>T	5.37:g.121188138G>T	ENSP00000313691:p.Met160Ile						p.M160I	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	489	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	160			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.480G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361359	0.61403	.	.	ENSG00000181867	ENST00000321339	T	0.69806	-0.43	3.6	2.73	0.32206	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.122893	0.53938	D	0.000060	T	0.76513	0.3998	M	0.83012	2.62	0.34263	D	0.680113	P	0.45715	0.865	P	0.54174	0.744	D	0.84336	0.0524	10	0.66056	D	0.02	.	10.7021	0.45933	0.0:0.0:0.808:0.192	.	160	Q8N4E7	FTMT_HUMAN	I	160	ENSP00000313691:M160I	ENSP00000313691:M160I	M	+	3	0	FTMT	121216037	1.000000	0.71417	0.914000	0.36105	0.997000	0.91878	4.514000	0.60482	1.084000	0.41184	0.655000	0.94253	ATG		0.557	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		36	77	1	0	1.90571e-15	0.004289	3.42161e-15	36	77				
FBN2	2201	broad.mit.edu	37	5	127611777	127611777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:127611777G>A	ENST00000508053.1	-	65	8521	c.7547C>T	c.(7546-7548)tCa>tTa	p.S2516L	FBN2_ENST00000262464.4_Missense_Mutation_p.S2516L			P35556	FBN2_HUMAN	fibrillin 2	2516	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTCGGACATGAACACTGATA	0.448																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7546-7548)TCA>TTA		fibrillin 2 precursor							209.0	181.0	190.0					5																	127611777		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127611777G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7547C>T	5.37:g.127611777G>A	ENSP00000424571:p.Ser2516Leu						p.S2516L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	59	7986	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2516			EGF-like 42; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7547C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481467	0.84747	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91945	-2.94;-2.94	5.16	5.16	0.70880	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000031	D	0.94450	0.8214	L	0.43554	1.36	0.54753	D	0.999982	D	0.71674	0.998	D	0.72075	0.976	D	0.94550	0.7753	10	0.66056	D	0.02	.	19.2125	0.93763	0.0:0.0:1.0:0.0	.	2516	P35556	FBN2_HUMAN	L	2516	ENSP00000262464:S2516L;ENSP00000424571:S2516L	ENSP00000262464:S2516L	S	-	2	0	FBN2	127639676	1.000000	0.71417	0.966000	0.40874	0.501000	0.33797	9.601000	0.98297	2.840000	0.97914	0.655000	0.94253	TCA		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	50	0	0	0	0.001984	0	7	50				
ADAMTS19	171019	broad.mit.edu	37	5	129037099	129037099	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:129037099G>C	ENST00000274487.4	+	20	3100	c.2955G>C	c.(2953-2955)tgG>tgC	p.W985C	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	985	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGACAGAATGGACCCCTTGTT	0.438																																							uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2953-2955)TGG>TGC		ADAM metallopeptidase with thrombospondin type 1							112.0	106.0	108.0					5																	129037099		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037099G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2955G>C	5.37:g.129037099G>C	ENSP00000274487:p.Trp985Cys					ADAMTS19_uc010jdh.1_RNA	p.W985C	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	2955	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	985			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2955G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351864	0.61183	.	.	ENSG00000145808	ENST00000274487	T	0.77489	-1.1	4.06	4.06	0.47325	.	0.000000	0.64402	D	0.000009	D	0.92919	0.7747	H	0.98980	4.39	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.95847	0.8871	9	.	.	.	.	17.542	0.87851	0.0:0.0:1.0:0.0	.	985	Q8TE59	ATS19_HUMAN	C	985	ENSP00000274487:W985C	.	W	+	3	0	ADAMTS19	129064998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.398000	0.79919	2.544000	0.85801	0.650000	0.86243	TGG		0.438	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		22	51	0	0	0	0.00333	0	22	51				
IL9	3578	broad.mit.edu	37	5	135229727	135229727	+	Silent	SNP	T	T	C	rs144819897		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:135229727T>C	ENST00000274520.1	-	4	307	c.297A>G	c.(295-297)ctA>ctG	p.L99L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	99					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTTGTTCTTTAGTACTTCAA	0.398													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18979	0.0		0.0	False		,,,				2504	0.0						uc003lbb.1		NA																	0					0						c.(295-297)CTA>CTG		interleukin 9 precursor		T		8,4398	14.3+/-33.2	0,8,2195	173.0	148.0	157.0		297	-2.8	0.0	5	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	IL9	NM_000590.1		0,8,6495	CC,CT,TT		0.0,0.1816,0.0615		99/145	135229727	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135229727T>C	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.297A>G	5.37:g.135229727T>C							p.L99L	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	308	-			99						Silent	SNP	ENST00000274520.1	37	c.297A>G	CCDS4189.1																																																																																				0.398	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		16	7	0	0	0	0.004007	0	16	7				
KDM3B	51780	broad.mit.edu	37	5	137727287	137727287	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:137727287G>T	ENST00000314358.5	+	8	2166	c.1966G>T	c.(1966-1968)Gca>Tca	p.A656S	KDM3B_ENST00000394866.1_Missense_Mutation_p.A312S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	656	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGCATCTCAGGCATCAGGTAG	0.507																																							uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1966-1968)GCA>TCA		jumonji domain containing 1B							64.0	66.0	65.0					5																	137727287		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727287G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1966G>T	5.37:g.137727287G>T	ENSP00000326563:p.Ala656Ser					KDM3B_uc010jew.1_Missense_Mutation_p.A312S|KDM3B_uc011cys.1_Intron	p.A656S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2166	+			656			Ser-rich.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1966G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195231	0.22037	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70045	0.14;-0.45	5.42	4.53	0.55603	.	1.052470	0.07305	N	0.874802	T	0.43411	0.1246	N	0.08118	0	0.80722	D	1	B;B	0.21905	0.062;0.037	B;B	0.25759	0.063;0.028	T	0.46952	-0.9154	10	0.10377	T	0.69	-10.5424	5.4	0.16291	0.19:0.1866:0.6234:0.0	.	312;656	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	656;446;312	ENSP00000326563:A656S;ENSP00000378335:A312S	ENSP00000326563:A656S	A	+	1	0	KDM3B	137755186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.539000	0.45718	2.694000	0.91930	0.655000	0.94253	GCA		0.507	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		28	33	1	0	4.22769e-11	0.00632	6.95808e-11	28	33				
PCDHA3	56145	broad.mit.edu	37	5	140182981	140182981	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140182981G>T	ENST00000522353.2	+	1	2199	c.2199G>T	c.(2197-2199)ggG>ggT	p.G733G	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.G733G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	733					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(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)			GCGACTGTGGGCCGGGCAAGC	0.647																																							uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(2197-2199)GGG>GGT		protocadherin alpha 3 isoform 1 precursor							76.0	82.0	80.0					5																	140182981		2203	4299	6502	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182981G>T	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.2199G>T	5.37:g.140182981G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G733G	p.G733G	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2199	+			733			Cytoplasmic (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.2199G>T	CCDS54915.1																																																																																				0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		40	65	1	0	9.73076e-26	0.006999	1.919e-25	40	65				
PCDHA11	56138	broad.mit.edu	37	5	140249457	140249457	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140249457A>G	ENST00000398640.2	+	1	769	c.769A>G	c.(769-771)Aaa>Gaa	p.K257E	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	257	Cadherin 3. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGCTGCTAAAGAAACTCT	0.428																																							uc003lia.2		NA																	0				breast(1)	1						c.(769-771)AAA>GAA		protocadherin alpha 11 isoform 1 precursor							32.0	31.0	31.0					5																	140249457		1909	4130	6039	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249457A>G	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.769A>G	5.37:g.140249457A>G	ENSP00000381636:p.Lys257Glu					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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.K257E	p.K257E	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1627	+			257			Extracellular (Potential).|Cadherin 3.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.769A>G	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	A	0.263	-0.998473	0.02145	.	.	ENSG00000249158	ENST00000398640	T	0.51071	0.72	5.71	1.98	0.26296	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26340	0.0643	N	0.12831	0.26	0.09310	N	1	B;B	0.24368	0.102;0.032	B;B	0.29267	0.1;0.014	T	0.29366	-1.0014	9	0.18276	T	0.48	.	5.7229	0.17996	0.5595:0.2419:0.1987:0.0	.	257;257	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	E	257	ENSP00000381636:K257E	ENSP00000381636:K257E	K	+	1	0	PCDHA11	140229641	0.000000	0.05858	0.221000	0.23827	0.161000	0.22273	0.298000	0.19120	0.108000	0.17862	0.533000	0.62120	AAA		0.428	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		6	5	0	0	0	0.001168	0	6	5				
PCDHB2	56133	broad.mit.edu	37	5	140475034	140475034	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140475034G>T	ENST00000194155.4	+	1	808	c.660G>T	c.(658-660)ggG>ggT	p.G220G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	220	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGATGGCGGGAGTCCACCCA	0.557																																							uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(658-660)GGG>GGT		protocadherin beta 2 precursor							40.0	43.0	42.0					5																	140475034		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475034G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.660G>T	5.37:g.140475034G>T						PCDHB2_uc003lim.1_5'UTR	p.G220G	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	798	+			220			Extracellular (Potential).|Cadherin 2.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.660G>T	CCDS4244.1																																																																																				0.557	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		7	22	1	0	0.00198382	0.001984	0.00231877	7	22				
PCDHB17	54661	broad.mit.edu	37	5	140536781	140536781	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140536781A>T	ENST00000539533.1	+	1	1205	c.1205A>T	c.(1204-1206)tAc>tTc	p.Y402F						protocadherin beta 17 pseudogene																		GAAAATTTCTACACTTTGTTA	0.468																																							uc003lis.2		NA																	0					0						c.(1201-1203)TAC>TTC		SubName: Full=Protocadherin-psi1;																																				SO:0001583	missense	54661							g.chr5:140536781A>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1205A>T	5.37:g.140536781A>T	ENSP00000438685:p.Tyr402Phe						p.Y401F	NR_001280						1	1202	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1202A>T		.	.	.	.	.	.	.	.	.	.	A	12.25	1.880455	0.33255	.	.	ENSG00000255622	ENST00000539533	T	0.38077	1.16	4.93	4.93	0.64822	.	.	.	.	.	T	0.39384	0.1076	.	.	.	.	.	.	B	0.33919	0.432	B	0.39258	0.295	T	0.56068	-0.8040	7	0.59425	D	0.04	.	14.5449	0.68020	1.0:0.0:0.0:0.0	.	402	Q96T98	.	F	402	ENSP00000438685:Y402F	ENSP00000438685:Y402F	Y	+	2	0	AC005754.1	140516965	1.000000	0.71417	0.996000	0.52242	0.051000	0.14879	5.193000	0.65120	1.989000	0.58080	0.260000	0.18958	TAC		0.468	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	22	0	0	0	0.001984	0	7	22				
PCDHB16	57717	broad.mit.edu	37	5	140568367	140568367	+	IGR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140568367G>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCAGGACC	0.662																																							uc003liw.1		NA																	0					0						c.(1474-1476)CCG>CCT		protocadherin beta 9 precursor							91.0	113.0	105.0					5																	140568367		2203	4297	6500	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568367G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568367G>T							p.P492P	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1476	+			492			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1476G>T	CCDS4251.1																																																																																				0.662	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		75	112	1	0	3.54697e-40	0.00361	7.16328e-40	75	112				
PCDHB14	56122	broad.mit.edu	37	5	140604284	140604284	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140604284C>A	ENST00000239449.4	+	1	1207	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L250I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTCACTCTAGTTTCTGA	0.458																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(1207-1209)CTA>ATA		protocadherin beta 14 precursor							119.0	123.0	122.0					5																	140604284		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604284C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1207C>A	5.37:g.140604284C>A	ENSP00000239449:p.Leu403Ile					PCDHB14_uc011dal.1_Missense_Mutation_p.L250I	p.L403I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1207	+			403			Cadherin 4.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1207C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.92	1.488131	0.26686	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53206	0.63;0.63	4.54	-2.01	0.07410	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47097	0.1427	M	0.66297	2.02	0.09310	N	1	P	0.50710	0.938	P	0.50825	0.651	T	0.41840	-0.9486	9	0.72032	D	0.01	.	1.4478	0.02368	0.2013:0.2998:0.2972:0.2017	.	403	Q9Y5E9	PCDBE_HUMAN	I	250;403	ENSP00000444518:L250I;ENSP00000239449:L403I	ENSP00000239449:L403I	L	+	1	2	PCDHB14	140584468	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	-3.948000	0.00328	-0.393000	0.07739	-0.238000	0.12139	CTA		0.458	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		54	81	1	0	2.76378e-25	0.00361	5.44247e-25	54	81				
SH3TC2	79628	broad.mit.edu	37	5	148392151	148392151	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:148392151A>T	ENST00000515425.1	-	13	3301	c.3200T>A	c.(3199-3201)cTg>cAg	p.L1067Q	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L1060Q|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L614Q	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1067					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)			GCCTACCTGCAGGCACAGCTC	0.597																																							uc003lpu.2		NA																	0				ovary(2)	2						c.(3199-3201)CTG>CAG		SH3 domain and tetratricopeptide repeats 2							50.0	51.0	50.0					5																	148392151		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148392151A>T	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.3200T>A	5.37:g.148392151A>T	ENSP00000423660:p.Leu1067Gln					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L711Q|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L614Q|SH3TC2_uc010jgx.2_Missense_Mutation_p.L1060Q	p.L1067Q	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	3352	-			1067					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3200T>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570156	0.86542	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.79454	-1.18;-1.27;-1.18	5.67	5.67	0.87782	Tetratricopeptide-like helical (1);	0.206931	0.32002	N	0.006737	D	0.83473	0.5262	L	0.48642	1.525	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65987	0.929;0.94;0.929	T	0.83021	-0.0167	10	0.40728	T	0.16	-2.7334	15.8982	0.79350	1.0:0.0:0.0:0.0	.	1060;1067;1067	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	Q	614;1067;1060	ENSP00000441427:L614Q;ENSP00000423660:L1067Q;ENSP00000421860:L1060Q	ENSP00000425627:L1067Q	L	-	2	0	SH3TC2	148372344	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	8.909000	0.92647	2.159000	0.67721	0.533000	0.62120	CTG		0.597	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		7	34	0	0	0	0.00308	0	7	34				
CDX1	1044	broad.mit.edu	37	5	149563122	149563122	+	Missense_Mutation	SNP	C	C	A	rs371789864		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:149563122C>A	ENST00000231656.8	+	3	759	c.677C>A	c.(676-678)cCg>cAg	p.P226Q		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	226					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACAGCCGCCGATGGCCCAC	0.637																																							uc003lrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(676-678)CCG>CAG		caudal type homeobox 1							40.0	48.0	45.0					5																	149563122		2203	4298	6501	SO:0001583	missense	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149563122C>A	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.677C>A	5.37:g.149563122C>A	ENSP00000231656:p.Pro226Gln						p.P226Q	NM_001804	NP_001795	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	773	+		all_hematologic(541;0.224)	226					Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	c.677C>A	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003004	0.54254	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.90844	-2.74	5.73	2.82	0.32997	.	0.376362	0.28859	N	0.013901	D	0.91143	0.7211	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	P	0.61201	0.885	T	0.82926	-0.0215	10	0.46703	T	0.11	-6.5554	8.1173	0.30950	0.0:0.6639:0.1265:0.2095	.	226	P47902	CDX1_HUMAN	Q	226;115	ENSP00000231656:P226Q	ENSP00000231656:P226Q	P	+	2	0	CDX1	149543315	0.097000	0.21791	0.004000	0.12327	0.001000	0.01503	1.702000	0.37836	0.782000	0.33613	0.591000	0.81541	CCG		0.637	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		15	17	1	0	6.31663e-08	0.003163	9.24099e-08	15	17				
NDST1	3340	broad.mit.edu	37	5	149907801	149907801	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:149907801G>T	ENST00000261797.6	+	3	1451	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	NDST1_ENST00000523767.1_Missense_Mutation_p.D317Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	317	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCTGGTGGACATTGATGA	0.612																																							uc003lsk.3		NA																	0				breast(1)|skin(1)	2						c.(949-951)GAC>TAC		N-deacetylase/N-sulfotransferase (heparan							93.0	84.0	87.0					5																	149907801		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907801G>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.949G>T	5.37:g.149907801G>T	ENSP00000261797:p.Asp317Tyr					NDST1_uc011dcj.1_Missense_Mutation_p.D317Y|NDST1_uc003lsl.2_Missense_Mutation_p.D317Y	p.D317Y	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1451	+		all_hematologic(541;0.224)	317			Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.949G>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626898	0.87560	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.71222	-0.55;-0.13	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	M	0.92604	3.325	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	0.91116	0.4926	10	0.87932	D	0	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	317;317;317	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	Y	317	ENSP00000428604:D317Y;ENSP00000261797:D317Y	ENSP00000261797:D317Y	D	+	1	0	NDST1	149887994	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.676000	0.98643	2.494000	0.84150	0.555000	0.69702	GAC		0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		14	37	1	0	2.31682e-05	0.003163	2.98321e-05	14	37				
ANXA6	309	broad.mit.edu	37	5	150483222	150483222	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:150483222C>G	ENST00000354546.5	-	25	2098	c.1871G>C	c.(1870-1872)aGg>aCg	p.R624T	ANXA6_ENST00000523714.1_Missense_Mutation_p.R592T|ANXA6_ENST00000377751.5_Missense_Mutation_p.R281T|ANXA6_ENST00000356496.5_Missense_Mutation_p.R618T|ANXA6_ENST00000521512.1_Missense_Mutation_p.R411T	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	624					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCATGATCCTGGTCAGAGT	0.532																																							uc003ltl.1		NA																	0					0						c.(1870-1872)AGG>ACG		annexin VI isoform 1							40.0	42.0	41.0					5																	150483222		2093	4231	6324	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150483222C>G	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1871G>C	5.37:g.150483222C>G	ENSP00000346550:p.Arg624Thr					ANXA6_uc011dcp.1_Missense_Mutation_p.R592T|ANXA6_uc003ltm.1_Missense_Mutation_p.R618T|ANXA6_uc003ltn.1_Missense_Mutation_p.R411T|ANXA6_uc003lto.1_Missense_Mutation_p.R211T	p.R624T	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	2023	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	624			Annexin 8.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1871G>C	CCDS47315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150154|4.150154	0.78001|0.78001	.|.	.|.	ENSG00000197043|ENSG00000197043	ENST00000522664|ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153;ENST00000517486	.|T;T;T;T;T;T	.|0.04603	.|3.71;3.71;3.71;3.71;3.71;3.59	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Annexin repeat, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23846|0.23846	0.0577|0.0577	M|M	0.82056|0.82056	2.57|2.57	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.01375|0.01375	-1.1371|-1.1371	5|10	.|0.87932	.|D	.|0	.|.	16.881|16.881	0.86063|0.86063	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|411;618;624	.|E5RK69;A6NN80;P08133	.|.;.;ANXA6_HUMAN	H|T	20|624;592;281;618;411;498;117	.|ENSP00000346550:R624T;ENSP00000430517:R592T;ENSP00000366980:R281T;ENSP00000348889:R618T;ENSP00000430420:R411T;ENSP00000428916:R117T	.|ENSP00000346550:R624T	Q|R	-|-	3|2	2|0	ANXA6|ANXA6	150463415|150463415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.262000|5.262000	0.65501|0.65501	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.532	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		6	8	0	0	0	0.001984	0	6	8				
ADAM19	8728	broad.mit.edu	37	5	156926626	156926626	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:156926626C>A	ENST00000517905.1	-	13	1397	c.1353G>T	c.(1351-1353)agG>agT	p.R451S	ADAM19_ENST00000394020.1_Missense_Mutation_p.R453S|ADAM19_ENST00000430702.2_Missense_Mutation_p.R184S|ADAM19_ENST00000257527.4_Missense_Mutation_p.R451S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	451	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGCCCCCGGCCTCAGGGTAC	0.627																																							uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1351-1353)AGG>AGT		ADAM metallopeptidase domain 19 preproprotein							51.0	45.0	47.0					5																	156926626		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156926626C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1353G>T	5.37:g.156926626C>A	ENSP00000428654:p.Arg451Ser					ADAM19_uc003lww.1_Missense_Mutation_p.R184S|ADAM19_uc003lwy.2_Missense_Mutation_p.R50S|ADAM19_uc011ddr.1_Missense_Mutation_p.R382S	p.R451S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		13	1417	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	451			Disintegrin.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1353G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.448|8.448	0.852446|0.852446	0.17106|0.17106	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.11385	.|2.78;2.78;2.78;2.78	4.84|4.84	-1.23|-1.23	0.09465|0.09465	.|Blood coagulation inhibitor, Disintegrin (5);	.|0.211100	.|0.32769	.|N	.|0.005668	T|T	0.09555|0.09555	0.0235|0.0235	L|L	0.48986|0.48986	1.54|1.54	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.44521	.|0.688;0.837;0.561	.|B;B;B	.|0.37387	.|0.115;0.248;0.053	T|T	0.20438|0.20438	-1.0275|-1.0275	5|10	.|0.87932	.|D	.|0	.|.	12.3056|12.3056	0.54900|0.54900	0.0:0.6862:0.0:0.3138|0.0:0.6862:0.0:0.3138	.|.	.|451;451;184	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	V|S	22|184;451;453;451	.|ENSP00000414088:R184S;ENSP00000257527:R451S;ENSP00000377588:R453S;ENSP00000428654:R451S	.|ENSP00000257527:R451S	G|R	-|-	2|3	0|2	ADAM19|ADAM19	156859204|156859204	0.001000|0.001000	0.12720|0.12720	0.117000|0.117000	0.21633|0.21633	0.101000|0.101000	0.19017|0.19017	-0.009000|-0.009000	0.12765|0.12765	-0.162000|-0.162000	0.10964|0.10964	-0.157000|-0.157000	0.13467|0.13467	GGC|AGG		0.627	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		6	15	1	0	3.59834e-05	0.001168	4.57629e-05	6	15				
ADRA1B	147	broad.mit.edu	37	5	159344430	159344430	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:159344430C>G	ENST00000306675.3	+	1	641	c.518C>G	c.(517-519)tCc>tGc	p.S173C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	173					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	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)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TGGGTCTTGTCCACCGTCATC	0.607																																							uc003lxt.1		NA																	0				lung(1)	1						c.(517-519)TCC>TGC		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						86.0	77.0	80.0					5																	159344430		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344430C>G	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.518C>G	5.37:g.159344430C>G	ENSP00000306662:p.Ser173Cys						p.S173C	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	691	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	173			Helical; Name=4; (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.518C>G	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301241	0.60195	.	.	ENSG00000170214	ENST00000306675	T	0.47177	0.85	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.101790	0.64402	D	0.000001	T	0.75953	0.3920	M	0.89534	3.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.80367	-0.1412	10	0.87932	D	0	.	18.6331	0.91368	0.0:1.0:0.0:0.0	.	173	P35368	ADA1B_HUMAN	C	173	ENSP00000306662:S173C	ENSP00000306662:S173C	S	+	2	0	ADRA1B	159277008	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	7.818000	0.86416	2.758000	0.94735	0.563000	0.77884	TCC		0.607	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			17	27	0	0	0	0.004007	0	17	27				
RASGEF1C	255426	broad.mit.edu	37	5	179564598	179564598	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:179564598G>T	ENST00000393371.2	-	2	588	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.L98M			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	98	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTTGTCCAGCACCGGCTTG	0.652																																							uc003mlq.2		NA																	0				ovary(1)	1						c.(292-294)CTG>ATG		RasGEF domain family, member 1C							16.0	16.0	16.0					5																	179564598		2196	4286	6482	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564598G>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.292C>A	5.37:g.179564598G>T	ENSP00000377037:p.Leu98Met					RASGEF1C_uc003mlr.2_Missense_Mutation_p.L98M|RASGEF1C_uc003mlp.3_5'Flank	p.L98M	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	589	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	98			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.292C>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714593	0.30413	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.50277	0.75;0.75	4.17	4.17	0.49024	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.64402	D	0.000003	T	0.35422	0.0931	L	0.38838	1.175	0.80722	D	1	B	0.25667	0.131	B	0.25759	0.063	T	0.17961	-1.0352	10	0.34782	T	0.22	.	9.3386	0.38065	0.1017:0.0:0.8983:0.0	.	98	Q8N431	RGF1C_HUMAN	M	98	ENSP00000354963:L98M;ENSP00000377037:L98M	ENSP00000354963:L98M	L	-	1	2	RASGEF1C	179497204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.917000	0.56424	2.059000	0.61396	0.511000	0.50034	CTG		0.652	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		8	7	1	0	2.17888e-05	0.006214	2.81911e-05	8	7				
CDYL	9425	broad.mit.edu	37	6	4943946	4943946	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:4943946G>T	ENST00000328908.5	+	7	1581	c.1450G>T	c.(1450-1452)Ggc>Tgc	p.G484C	CDYL_ENST00000343762.5_Missense_Mutation_p.G298C|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.G298C|CDYL_ENST00000397588.3_Missense_Mutation_p.G430C			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	484					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GAGTCCAGATGGCTGTTCTAC	0.408																																							uc003mwi.2		NA																	0					0						c.(1450-1452)GGC>TGC		chromodomain protein, Y chromosome-like isoform							120.0	123.0	122.0					6																	4943946		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4943946G>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1450G>T	6.37:g.4943946G>T	ENSP00000330512:p.Gly484Cys					CDYL_uc003mwj.2_Missense_Mutation_p.G430C|CDYL_uc003mwk.2_Missense_Mutation_p.G195C|CDYL_uc011dhx.1_Missense_Mutation_p.G298C|CDYL_uc011dhy.1_Missense_Mutation_p.G298C	p.G484C	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	7	1581	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	484					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1450G>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.005097	0.93287	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.63	5.63	0.86233	Crotonase, core (1);	0.172838	0.50627	D	0.000104	D	0.83330	0.5231	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85998	0.1493	10	0.87932	D	0	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	430;484	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	C	484;430;298;298	ENSP00000330512:G484C;ENSP00000380718:G430C;ENSP00000394076:G298C;ENSP00000340908:G298C	ENSP00000330512:G484C	G	+	1	0	CDYL	4888945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.785000	0.85724	2.644000	0.89710	0.655000	0.94253	GGC		0.408	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		37	135	1	0	5.04308e-16	0.00623	9.18976e-16	37	135				
F13A1	2162	broad.mit.edu	37	6	6167690	6167690	+	Splice_Site	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:6167690C>T	ENST00000264870.3	-	13	2174		c.e13+1		MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTAAGACTGACCTTGATGATG	0.488																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.e13+1		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						202.0	155.0	171.0					6																	6167690		2203	4300	6503	SO:0001630	splice_region_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6167690C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1908+1G>A	6.37:g.6167690C>T						F13A1_uc011dib.1_Splice_Site_p.K573_splice	p.K636_splice	NM_000129	NP_000120	P00488	F13A_HUMAN			13	2031	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)						Q59HA7|Q8N6X2|Q96P24|Q9BX29	Splice_Site	SNP	ENST00000264870.3	37	c.1908_splice	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562324	0.45694	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8354	0.92161	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F13A1	6112689	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	4.935000	0.63498	2.701000	0.92244	0.591000	0.81541	.		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	Intron	11	57	0	0	0	0.004007	0	11	57				
GCNT2	2651	broad.mit.edu	37	6	10529193	10529193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:10529193G>T	ENST00000379597.3	+	1	605	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	GCNT2_ENST00000495262.1_Missense_Mutation_p.A17S|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	17					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCTTATCTCTGCCCTGATTTT	0.418																																							uc010joo.2		NA																	0				ovary(2)	2						c.(49-51)GCC>TCC		glucosaminyl (N-acetyl) transferase 2,							131.0	121.0	124.0					6																	10529193		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529193G>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.49G>T	6.37:g.10529193G>T	ENSP00000368917:p.Ala17Ser					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.A16S|GCNT2_uc010jon.2_Missense_Mutation_p.A16S	p.A17S	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	600	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	17			Helical; Signal-anchor for type II membrane protein; (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.49G>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495117	0.44352	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.10192	2.9;2.9	5.43	3.52	0.40303	.	1.402740	0.04403	N	0.364571	T	0.05044	0.0135	L	0.47716	1.5	0.22581	N	0.998969	B;B	0.29936	0.128;0.262	B;B	0.30316	0.114;0.114	T	0.44034	-0.9354	10	0.72032	D	0.01	-12.1099	9.7616	0.40534	0.1836:0.0:0.8164:0.0	.	17;16	Q8N0V5;Q08M29	GNT2A_HUMAN;.	S	17	ENSP00000419411:A17S;ENSP00000368917:A17S	ENSP00000368917:A17S	A	+	1	0	GCNT2	10637179	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	0.674000	0.25218	0.574000	0.29417	0.555000	0.69702	GCC		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		21	88	1	0	1.64113e-05	0.001523	2.14193e-05	21	88				
JARID2	3720	broad.mit.edu	37	6	15487586	15487586	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:15487586A>T	ENST00000341776.2	+	6	963	c.719A>T	c.(718-720)aAa>aTa	p.K240I	JARID2_ENST00000397311.3_Missense_Mutation_p.K68I|JARID2_ENST00000541660.1_Missense_Mutation_p.K202I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	240					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCTGTTCAAAAACACAAAAGC	0.532																																							uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(718-720)AAA>ATA		jumonji, AT rich interactive domain 2 protein							113.0	101.0	105.0					6																	15487586		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15487586A>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.719A>T	6.37:g.15487586A>T	ENSP00000341280:p.Lys240Ile					JARID2_uc011diu.1_Missense_Mutation_p.K104I|JARID2_uc011div.1_Missense_Mutation_p.K68I|JARID2_uc011diw.1_Missense_Mutation_p.K202I	p.K240I	NM_004973	NP_004964	Q92833	JARD2_HUMAN			6	963	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	240					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.719A>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167771	0.78339	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.36520	1.25;1.25;1.25	5.42	5.42	0.78866	.	0.141453	0.52532	D	0.000073	T	0.24624	0.0597	N	0.24115	0.695	0.38943	D	0.958198	D;D;P	0.55800	0.958;0.973;0.877	P;P;P	0.54312	0.748;0.732;0.467	T	0.10042	-1.0647	10	0.56958	D	0.05	-9.8087	10.1566	0.42827	0.9251:0.0:0.0749:0.0	.	202;104;240	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	104;240;68;202	ENSP00000341280:K240I;ENSP00000380478:K68I;ENSP00000444623:K202I	ENSP00000341280:K240I	K	+	2	0	JARID2	15595565	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.155000	0.58131	2.168000	0.68352	0.533000	0.62120	AAA		0.532	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		18	52	0	0	0	0.001523	0	18	52				
KIF13A	63971	broad.mit.edu	37	6	17837114	17837114	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:17837114C>G	ENST00000259711.6	-	11	1255	c.1150G>C	c.(1150-1152)Gca>Cca	p.A384P	KIF13A_ENST00000378826.2_Missense_Mutation_p.A384P|KIF13A_ENST00000378816.5_Missense_Mutation_p.A384P|KIF13A_ENST00000378814.5_Missense_Mutation_p.A384P|KIF13A_ENST00000378843.2_Missense_Mutation_p.A384P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	384					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTACCTCTGCCTGAGAGAGC	0.512																																							uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(1150-1152)GCA>CCA		kinesin family member 13A isoform a							176.0	174.0	175.0					6																	17837114		1947	4147	6094	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837114C>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1150G>C	6.37:g.17837114C>G	ENSP00000259711:p.Ala384Pro					KIF13A_uc003ncf.2_Missense_Mutation_p.A384P|KIF13A_uc003nch.3_Missense_Mutation_p.A384P|KIF13A_uc003nci.3_Missense_Mutation_p.A384P|KIF13A_uc003ncj.2_Missense_Mutation_p.A60P	p.A384P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	1255	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	384			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1150G>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388498	0.95988	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.997;1.0	D;D;D;D;D	0.74674	0.979;0.921;0.984;0.969;0.984	D	0.83822	0.0247	10	0.72032	D	0.01	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	355;384;384;384;384	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	P	384	ENSP00000368091:A384P;ENSP00000259711:A384P;ENSP00000368103:A384P;ENSP00000368120:A384P;ENSP00000368093:A384P	ENSP00000259711:A384P	A	-	1	0	KIF13A	17945093	1.000000	0.71417	0.986000	0.45419	0.889000	0.51656	7.776000	0.85560	2.868000	0.98415	0.557000	0.71058	GCA		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			57	161	0	0	0	0.00361	0	57	161				
SLC17A2	10246	broad.mit.edu	37	6	25921632	25921632	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:25921632C>A	ENST00000265425.3	-	3	269	c.249G>T	c.(247-249)gtG>gtT	p.V83V	SLC17A2_ENST00000360488.3_Silent_p.V83V|SLC17A2_ENST00000377850.3_Silent_p.V83V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	83					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCCATTGATACACAGAGGCCT	0.413																																							uc011dkb.1		NA																	0				ovary(1)	1						c.(247-249)GTG>GTT		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							63.0	64.0	64.0					6																	25921632		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921632C>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.249G>T	6.37:g.25921632C>A						SLC17A2_uc011dkc.1_Silent_p.V83V|SLC17A2_uc003nfl.2_Silent_p.V83V	p.V83V			O00624	NPT3_HUMAN			3	332	-			83					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.249G>T																																																																																					0.413	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			6	26	1	0	3.59834e-05	0.001168	4.57629e-05	6	26				
HIST1H3B	8358	broad.mit.edu	37	6	26031973	26031973	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26031973C>T	ENST00000244661.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					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						TTTGTGTCCTCAAAGAGCCCT	0.542																																							uc003nfs.1		NA																	0				ovary(2)	2						c.(316-318)GAG>AAG		histone cluster 1, H3b							76.0	77.0	77.0					6																	26031973		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031973C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.316G>A	6.37:g.26031973C>T	ENSP00000244661:p.Glu106Lys						p.E106K	NM_003537	NP_003528	P68431	H31_HUMAN			1	316	-			106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.316G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	16.80	3.224253	0.58668	.	.	ENSG00000124693	ENST00000244661	T	0.71341	-0.56	5.07	5.07	0.68467	.	.	.	.	.	T	0.80003	0.4544	.	.	.	0.47994	D	0.999564	.	.	.	.	.	.	T	0.82824	-0.0266	6	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	K	106	ENSP00000244661:E106K	ENSP00000244661:E106K	E	-	1	0	HIST1H3B	26139952	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG		0.542	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		21	51	0	0	0	0.001882	0	21	51				
HIST1H2AB	8335	broad.mit.edu	37	6	26033604	26033604	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26033604C>G	ENST00000259791.2	-	1	192	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	65						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCCGCCAGCTCCAGGATCTCG	0.637																																							uc003nft.1		NA																	0					0						c.(193-195)GAG>CAG		histone cluster 1, H2ab							45.0	49.0	48.0					6																	26033604		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033604C>G	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.193G>C	6.37:g.26033604C>G	ENSP00000259791:p.Glu65Gln					HIST1H3B_uc003nfs.1_5'Flank	p.E65Q	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	193	-			65					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.193G>C	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.914816	0.92178	.	.	ENSG00000137259	ENST00000259791	T	0.71698	-0.59	5.35	5.35	0.76521	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.35646	U	0.003064	D	0.83261	0.5216	.	.	.	0.43029	D	0.994595	D	0.89917	1.0	D	0.91635	0.999	D	0.85178	0.1002	9	0.87932	D	0	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	65	P04908	H2A1B_HUMAN	Q	65	ENSP00000259791:E65Q	ENSP00000259791:E65Q	E	-	1	0	HIST1H2AB	26141583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.701000	0.84566	2.648000	0.89879	0.561000	0.74099	GAG		0.637	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		4	70	0	0	0	0.001168	0	4	70				
HIST1H3E	8353	broad.mit.edu	37	6	26225539	26225539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26225539C>A	ENST00000360408.1	+	1	157	c.157C>A	c.(157-159)Cgt>Agt	p.R53S		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	53					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)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627																																							uc003nhb.2		NA																	0					0						c.(157-159)CGT>AGT		histone cluster 1, H3f							55.0	55.0	55.0					6																	26225539		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225539C>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.157C>A	6.37:g.26225539C>A	ENSP00000353581:p.Arg53Ser					HIST1H3E_uc003nhc.3_Missense_Mutation_p.R53S	p.R53S	NM_021018	NP_066298	P68431	H31_HUMAN			2	517	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	53					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.157C>A	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.058643	0.36277	.	.	ENSG00000196966	ENST00000360408	T	0.51574	0.7	4.54	3.66	0.41972	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.35530	D	0.80215	.	.	.	.	.	.	T	0.57051	-0.7877	6	0.66056	D	0.02	.	13.5699	0.61841	0.1562:0.8438:0.0:0.0	.	.	.	.	S	53	ENSP00000353581:R53S	ENSP00000353581:R53S	R	+	1	0	HIST1H3E	26333518	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	5.764000	0.68826	1.269000	0.44280	0.491000	0.48974	CGT		0.627	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		11	45	1	0	7.03913e-09	0.001368	1.07427e-08	11	45				
HIST1H4F	8361	broad.mit.edu	37	6	26240950	26240950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26240950C>G	ENST00000377745.2	+	1	390	c.297C>G	c.(295-297)taC>taG	p.Y99*		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	99					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCACTCTGTACGGCTTTGGTG	0.557																																							uc003nhe.1		NA																	0					0						c.(295-297)TAC>TAG		histone cluster 1, H4f							79.0	68.0	72.0					6																	26240950		2203	4300	6503	SO:0001587	stop_gained	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240950C>G	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.297C>G	6.37:g.26240950C>G	ENSP00000366974:p.Tyr99*						p.Y99*	NM_003540	NP_003531	P62805	H4_HUMAN			1	297	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	99					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonsense_Mutation	SNP	ENST00000377745.2	37	c.297C>G	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699088	0.30142	.	.	ENSG00000198327	ENST00000377745	.	.	.	4.36	1.45	0.22620	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.27404	N	0.954779	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3386	0.38065	0.0:0.767:0.0:0.233	.	.	.	.	X	99	.	ENSP00000366974:Y99X	Y	+	3	2	HIST1H4F	26348929	0.722000	0.28017	0.983000	0.44433	0.074000	0.17049	-0.056000	0.11787	0.186000	0.20125	0.563000	0.77884	TAC		0.557	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		4	42	0	0	0	0.000248	0	4	42				
HIST1H1B	3009	broad.mit.edu	37	6	27835138	27835138	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:27835138C>A	ENST00000331442.3	-	1	221	c.170G>T	c.(169-171)cGc>cTc	p.R57L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	57	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AAGGCCATTGCGCTCCTTAGA	0.597																																							uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(169-171)CGC>CTC		histone cluster 1, H1b							77.0	85.0	82.0					6																	27835138		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835138C>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.170G>T	6.37:g.27835138C>A	ENSP00000330074:p.Arg57Leu						p.R57L	NM_005322	NP_005313	P16401	H15_HUMAN			1	222	-			57			H15.		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.170G>T	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	36	5.738699	0.96865	.	.	ENSG00000184357	ENST00000331442	T	0.34275	1.37	5.43	5.43	0.79202	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.111094	0.64402	D	0.000006	T	0.75148	0.3810	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85911	0.1440	10	0.87932	D	0	-14.0754	18.6154	0.91300	0.0:1.0:0.0:0.0	.	57	P16401	H15_HUMAN	L	57	ENSP00000330074:R57L	ENSP00000330074:R57L	R	-	2	0	HIST1H1B	27943117	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.774000	0.62339	2.716000	0.92895	0.655000	0.94253	CGC		0.597	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		25	94	1	0	6.32553e-13	0.004656	1.08773e-12	25	94				
ZKSCAN8	7745	broad.mit.edu	37	6	28120089	28120089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:28120089G>T	ENST00000330236.6	+	5	886	c.702G>T	c.(700-702)tgG>tgT	p.W234C	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W234C	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	234	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)										GAGAGGAGTGGCTTCTTGATC	0.453																																							uc003nkn.1		NA																	0					0						c.(700-702)TGG>TGT		zinc finger protein 192							141.0	141.0	141.0					6																	28120089		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.chr6:28120089G>T		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.702G>T	6.37:g.28120089G>T	ENSP00000332750:p.Trp234Cys					ZNF192_uc010jqx.1_Missense_Mutation_p.W234C|ZNF192_uc010jqy.1_Missense_Mutation_p.W47C|ZNF192_uc011dkz.1_Missense_Mutation_p.W47C	p.W234C	NM_006298	NP_006289	Q15776	ZN192_HUMAN			5	886	+			234			KRAB.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.702G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995295	0.74703	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.10288	2.89;2.89	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.52532	D	0.000061	T	0.34861	0.0912	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26395	-1.0104	10	0.72032	D	0.01	.	18.644	0.91405	0.0:0.0:1.0:0.0	.	234	Q15776	ZN192_HUMAN	C	234	ENSP00000332750:W234C;ENSP00000402948:W234C	ENSP00000332750:W234C	W	+	3	0	ZNF192	28228068	0.933000	0.31639	1.000000	0.80357	0.993000	0.82548	1.014000	0.29950	2.873000	0.98535	0.563000	0.77884	TGG		0.453	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			22	98	1	0	1.10513e-12	0.002299	1.89069e-12	22	98				
Unknown	0	broad.mit.edu	37	6	28244355	28244355	+	IGR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:28244355G>T								NKAPL (15619 upstream) : PGBD1 (4958 downstream)																							CCATCTTGGTGAGAAGCCTTA	0.443																																							uc011dld.1		NA																	0					0						c.(919-921)GAG>TAG		zinc finger protein 187 isoform b							69.0	71.0	70.0					6																	28244355		2073	4237	6310	SO:0001628	intergenic_variant	7741				viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28244355G>T																													6.37:g.28244355G>T						ZNF187_uc011dlc.1_Nonsense_Mutation_p.E308*|ZNF187_uc003nku.3_Nonsense_Mutation_p.E173*|ZNF187_uc003nkw.3_Nonsense_Mutation_p.E154*|ZNF187_uc011dle.1_Nonsense_Mutation_p.E154*|ZNF187_uc011dlf.1_Nonsense_Mutation_p.E99*|ZNF187_uc011dlg.1_Nonsense_Mutation_p.E154*	p.E307*	NM_001111039	NP_001104509	Q16670	ZN187_HUMAN			5	1189	+			307						Nonsense_Mutation	SNP		37	c.919G>T																																																																																				0	0.443									7	19	1	0	8.12818e-05	0.001984	0.000101263	7	19				
ZSCAN31	64288	broad.mit.edu	37	6	28294030	28294030	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:28294030G>C	ENST00000414429.1	-	8	2037	c.1134C>G	c.(1132-1134)ccC>ccG	p.P378P	ZSCAN31_ENST00000344279.6_Silent_p.P378P|ZSCAN31_ENST00000396838.2_Silent_p.P378P|ZSCAN31_ENST00000439158.1_Silent_p.P378P|ZSCAN31_ENST00000446474.1_Silent_p.P219P|ZSCAN31_ENST00000481934.1_5'UTR			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	378					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)										TGCACTGATAGGGTTTCTCAC	0.468																																						Colon(115;1052 1587 16954 47314 53012)	uc003nla.2		NA																	0				ovary(1)|skin(1)	2						c.(1132-1134)CCC>CCG		zinc finger protein 323							233.0	233.0	233.0					6																	28294030		2203	4300	6503	SO:0001819	synonymous_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294030G>C		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1134C>G	6.37:g.28294030G>C						ZNF323_uc003nld.2_Silent_p.P378P|ZNF323_uc010jra.2_Silent_p.P378P|ZNF323_uc003nlb.2_Silent_p.P219P|ZNF323_uc010jrb.2_Silent_p.P219P|ZNF323_uc003nlc.2_Silent_p.P378P	p.P378P	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1534	-			378					Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.1134C>G	CCDS4649.1																																																																																				0.468	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		10	245	0	0	0	0.008291	0	10	245				
GABBR1	2550	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000377016.4_Silent_p.P226P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000376977.3_Silent_p.P288P|GABBR1_ENST00000355973.3_Silent_p.P171P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GTGTGGCTGATGGGTGCGTTC	0.562																																							uc003nmt.3		NA																	0				ovary(5)|liver(1)|skin(1)	7						c.(862-864)CCA>CCG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						148.0	116.0	126.0					6																	29591181		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591181T>C	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.864A>G	6.37:g.29591181T>C						GABBR1_uc003nmp.3_Silent_p.P171P|GABBR1_uc003nms.3_Silent_p.P171P|GABBR1_uc003nmu.3_Silent_p.P226P|GABBR1_uc011dlr.1_Silent_p.P111P|GABBR1_uc011dls.1_Silent_p.P288P	p.P288P	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			8	1200	-			288			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.864A>G	CCDS4663.1																																																																																				0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			16	26	0	0	0	0.004007	0	16	26				
MOG	4340	broad.mit.edu	37	6	29641187	29641187	+	IGR	SNP	G	G	T	rs181230141		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:29641187G>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.T234K|ZFP57_ENST00000376881.3_Missense_Mutation_p.T214K|ZFP57_ENST00000376883.1_Missense_Mutation_p.T214K	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTCACAGAGCGTGCAACAGAA	0.562																																							uc011dlw.1		NA																	0				ovary(3)|skin(2)	5						c.(700-702)ACG>AAG		zinc finger protein 57 homolog							77.0	87.0	83.0					6																	29641187		1374	2613	3987	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641187G>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641187G>T						ZFP57_uc003nnl.3_Missense_Mutation_p.T214K	p.T234K	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	852	-			150			C2H2-type 3.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.701C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	4.373	0.068805	0.08436	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.16324	2.35;2.35;2.35	4.51	1.63	0.23807	.	2.083370	0.02333	N	0.074081	T	0.02012	0.0063	N	0.10916	0.065	0.09310	N	1	B;B	0.29716	0.255;0.255	B;B	0.28553	0.091;0.091	T	0.26326	-1.0106	10	0.06236	T	0.91	0.4104	5.221	0.15368	0.1918:0.0:0.6341:0.174	.	234;214	Q9NU63-3;Q9NU63-2	.;.	K	234;214;214	ENSP00000418259:T234K;ENSP00000366078:T214K;ENSP00000366080:T214K	ENSP00000366078:T214K	T	-	2	0	ZFP57	29749166	0.000000	0.05858	0.005000	0.12908	0.137000	0.21094	0.111000	0.15458	0.590000	0.29694	-0.261000	0.10672	ACG		0.562	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		15	59	1	0	2.32078e-09	0.003163	3.60742e-09	15	59				
TRIM40	135644	broad.mit.edu	37	6	30104992	30104992	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:30104992G>C	ENST00000396581.1	+	2	565	c.179G>C	c.(178-180)tGt>tCt	p.C60S	TRIM40_ENST00000376724.2_Missense_Mutation_p.C60S|TRIM40_ENST00000307859.4_Missense_Mutation_p.C60S			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	60					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CGGAAGCCCTGTTCTGAGGAG	0.572																																							uc003npk.2		NA																	0				ovary(1)	1						c.(178-180)TGT>TCT		tripartite motif-containing 40							93.0	76.0	82.0					6																	30104992		1511	2708	4219	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104992G>C	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.179G>C	6.37:g.30104992G>C	ENSP00000379826:p.Cys60Ser					TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.C60S	p.C60S	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			2	565	+			60					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.179G>C		.	.	.	.	.	.	.	.	.	.	G	13.96	2.392199	0.42410	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.66995	-0.24;-0.24;-0.24	4.69	2.92	0.33932	Zinc finger, RING/FYVE/PHD-type (1);	0.132210	0.35207	N	0.003365	T	0.43122	0.1233	M	0.75447	2.3	0.29062	N	0.883828	B;P	0.43094	0.058;0.799	B;B	0.40228	0.022;0.323	T	0.29212	-1.0019	10	0.22109	T	0.4	.	7.0062	0.24838	0.206:0.0:0.794:0.0	.	60;60	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	S	60	ENSP00000379826:C60S;ENSP00000365914:C60S;ENSP00000308310:C60S	ENSP00000308310:C60S	C	+	2	0	TRIM40	30212971	0.070000	0.21116	0.996000	0.52242	0.534000	0.34807	0.638000	0.24674	0.593000	0.29745	-0.242000	0.12053	TGT		0.572	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			11	34	0	0	0	0.008291	0	11	34				
MUC21	394263	broad.mit.edu	37	6	30955887	30955887	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:30955887G>T	ENST00000376296.3	+	3	1858	c.1617G>T	c.(1615-1617)agG>agT	p.R539S	MUC21_ENST00000486149.2_Missense_Mutation_p.R85S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	539	Cytoplasmic tail.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCCCCACAGGCCCAGGTGGA	0.597																																							uc003nsh.2		NA																	0				ovary(1)|skin(1)	2						c.(1615-1617)AGG>AGT		mucin 21 precursor							57.0	60.0	59.0					6																	30955887		1509	2708	4217	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955887G>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1617G>T	6.37:g.30955887G>T	ENSP00000365473:p.Arg539Ser					MUC21_uc003nsi.1_RNA	p.R539S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			3	1868	+			539			Cytoplasmic (Potential).|Cytoplasmic tail.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1617G>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	4.070	0.010915	0.07912	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.39997	1.05	4.85	-1.49	0.08718	.	.	.	.	.	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.33044	0.395	B	0.38803	0.282	T	0.30736	-0.9968	9	0.45353	T	0.12	-0.6139	4.4005	0.11385	0.3947:0.3132:0.2922:0.0	.	539	Q5SSG8	MUC21_HUMAN	S	389;539	ENSP00000365473:R539S	ENSP00000365473:R539S	R	+	3	2	MUC21	31063866	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.176000	0.10707	0.579000	0.79373	AGG		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	28	1	0	1.58986e-06	0.008291	2.20122e-06	11	28				
PSORS1C1	170679	broad.mit.edu	37	6	31083934	31083934	+	Intron	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:31083934A>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Nonsense_Mutation_p.C486*	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGCTGGAGCCACAGGGCTTGG	0.617																																							uc003nsm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1456-1458)TGT>TGA		corneodesmosin precursor							32.0	34.0	33.0					6																	31083934		2035	4018	6053	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31083934A>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1266A>T	6.37:g.31083934A>T						PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	p.C486*	NM_001264	NP_001255	Q15517	CDSN_HUMAN			2	1485	-			486					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Nonsense_Mutation	SNP	ENST00000259881.9	37	c.1458T>A	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759685	0.89932	.	.	ENSG00000204539	ENST00000376288	.	.	.	4.09	0.189	0.15119	.	0.000000	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.479	6.1519	0.20316	0.6155:0.0:0.3845:0.0	.	.	.	.	X	486	.	ENSP00000365465:C486X	C	-	3	2	CDSN	31191913	0.983000	0.35010	0.943000	0.38184	0.584000	0.36387	-0.011000	0.12721	-0.049000	0.13379	0.386000	0.25728	TGT		0.617	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		11	41	0	0	0	0.001368	0	11	41				
ABHD16A	7920	broad.mit.edu	37	6	31655057	31655057	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:31655057G>A	ENST00000395952.3	-	20	1771	c.1609C>T	c.(1609-1611)Cac>Tac	p.H537Y	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.H504Y|ABHD16A_ENST00000471644.1_5'Flank|ABHD16A_ENST00000375842.4_Missense_Mutation_p.H318Y	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	537						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCAAAGTTGTGCAGATGCTTC	0.602																																							uc003nvy.1		NA																	0					0						c.(1609-1611)CAC>TAC		HLA-B associated transcript 5							112.0	63.0	80.0					6																	31655057		1511	2709	4220	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31655057G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1609C>T	6.37:g.31655057G>A	ENSP00000379282:p.His537Tyr					BAT5_uc003nvx.1_Missense_Mutation_p.H318Y|BAT5_uc011dny.1_Missense_Mutation_p.H504Y|BAT5_uc003nvz.1_Missense_Mutation_p.H318Y|BAT5_uc011dnz.1_Missense_Mutation_p.H318Y	p.H537Y	NM_021160	NP_066983	O95870	ABHGA_HUMAN			20	1639	-			537					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.1609C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736487	0.49045	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	4.76	3.89	0.44902	.	0.393789	0.27504	N	0.019074	T	0.25791	0.0628	N	0.22421	0.69	0.80722	D	1	B;B	0.18461	0.028;0.0	B;B	0.09377	0.004;0.0	T	0.20974	-1.0259	9	0.72032	D	0.01	-12.3873	10.0697	0.42325	0.0:0.0:0.6342:0.3658	.	504;537	B7Z4R6;O95870	.;ABHGA_HUMAN	Y	537;318;504	.	ENSP00000365002:H318Y	H	-	1	0	ABHD16A	31763036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.173000	0.31920	1.219000	0.43474	0.555000	0.69702	CAC		0.602	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			6	22	0	0	0	0.001984	0	6	22				
NOTCH4	4855	broad.mit.edu	37	6	32180910	32180910	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32180910A>T	ENST00000375023.3	-	15	2577		c.e15+1		NOTCH4_ENST00000465528.1_Splice_Site	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCCTGCTCACCTGTCTGCA	0.647																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.e15+1		notch4 preproprotein							47.0	52.0	51.0					6																	32180910		2203	4300	6503	SO:0001630	splice_region_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180910A>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2438+1T>A	6.37:g.32180910A>T						NOTCH4_uc011dpu.1_Splice_Site|NOTCH4_uc011dpv.1_Splice_Site	p.S813_splice	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			15	2577	-								B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Splice_Site	SNP	ENST00000375023.3	37	c.2438_splice	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149654	0.37923	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7966	0.40740	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH4	32288888	1.000000	0.71417	0.987000	0.45799	0.466000	0.32739	3.079000	0.50104	1.902000	0.55061	0.397000	0.26171	.		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		Intron	5	37	0	0	0	0.000602	0	5	37				
C6orf10	10665	broad.mit.edu	37	6	32323447	32323447	+	Splice_Site	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32323447C>G	ENST00000447241.2	-	7	390		c.e7-1		C6orf10_ENST00000375015.4_Splice_Site|C6orf10_ENST00000533191.1_Splice_Site|RNU6-603P_ENST00000411403.1_RNA|C6orf10_ENST00000527965.1_Splice_Site|C6orf10_ENST00000442822.2_Splice_Site|C6orf10_ENST00000375007.4_Missense_Mutation_p.Q71H	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGATCTCTCTGAAAACATA	0.308																																							uc011dpy.1		NA																	0				skin(1)	1						c.e7-1		chromosome 6 open reading frame 10							68.0	73.0	72.0					6																	32323447		2197	4293	6490	SO:0001630	splice_region_variant	10665					integral to membrane		g.chr6:32323447C>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.218-1G>C	6.37:g.32323447C>G						C6orf10_uc011dpz.1_Splice_Site_p.E73_splice	p.E73_splice	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			7	391	-								A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Splice_Site	SNP	ENST00000447241.2	37	c.218_splice	CCDS34422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	0.596|0.596	-0.830846|-0.830846	0.02713|0.02713	.|.	.|.	ENSG00000204296|ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000532023;ENST00000534588|ENST00000375007	.|T	.|0.05447	.|3.44	4.06|4.06	3.19|3.19	0.36642|0.36642	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04407	.|0.0121	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30592	.|-0.9973	.|6	.|0.59425	.|D	.|0.04	.|.	10.083|10.083	0.42401|0.42401	0.0:0.796:0.204:0.0|0.0:0.796:0.204:0.0	.|.	.|.	.|.	.|.	.|H	-1|71	.|ENSP00000364146:Q71H	.|ENSP00000364146:Q71H	.|Q	-|-	.|3	.|2	C6orf10|C6orf10	32431425|32431425	0.218000|0.218000	0.23608|0.23608	0.076000|0.076000	0.20297|0.20297	0.002000|0.002000	0.02628|0.02628	0.861000|0.861000	0.27885|0.27885	1.307000|1.307000	0.44944|0.44944	-0.121000|-0.121000	0.15023|0.15023	.|CAG		0.308	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	Intron	3	61	0	0	0	0.000248	0	3	61				
BTNL2	56244	broad.mit.edu	37	6	32362737	32362737	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32362737A>G	ENST00000374993.1	-	6	1143	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	BTNL2_ENST00000544175.1_Missense_Mutation_p.S105P|BTNL2_ENST00000414363.1_Missense_Mutation_p.S172P|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000540315.1_Missense_Mutation_p.S172P|BTNL2_ENST00000454136.3_Missense_Mutation_p.S382P|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Missense_Mutation_p.S288P	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	382						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTGAAGAGCACATCGGC	0.577																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(1144-1146)TCT>CCT		butyrophilin-like 2							219.0	203.0	208.0					6																	32362737		2203	4300	6503	SO:0001583	missense	56244					integral to membrane		g.chr6:32362737A>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1144T>C	6.37:g.32362737A>G	ENSP00000364132:p.Ser382Pro					BTNL2_uc010jty.1_Missense_Mutation_p.S105P|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.S172P	p.S382P	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			6	1144	-			382			Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1144T>C		.	.	.	.	.	.	.	.	.	.	a	14.56	2.572442	0.45798	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.08	-0.748	0.11087	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.850873	0.10043	N	0.723181	T	0.73776	0.3630	M	0.68952	2.095	0.43896	D	0.996522	P;P	0.49961	0.893;0.93	P;P	0.57009	0.521;0.811	T	0.72074	-0.4400	10	0.72032	D	0.01	.	5.7181	0.17972	0.5341:0.0:0.1279:0.338	.	172;382	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	P	382;288;172;382;172;105	ENSP00000364134:S288P;ENSP00000390512:S172P;ENSP00000364132:S382P;ENSP00000444714:S172P;ENSP00000443364:S105P	ENSP00000364132:S382P	S	-	1	0	BTNL2	32470715	0.008000	0.16893	0.847000	0.33407	0.148000	0.21650	0.014000	0.13333	0.061000	0.16311	0.436000	0.28706	TCT		0.577	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		33	112	0	0	0	0.002096	0	33	112				
PIM1	5292	broad.mit.edu	37	6	37139014	37139014	+	Silent	SNP	G	G	C	rs368369675		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:37139014G>C	ENST00000373509.5	+	4	727	c.354G>C	c.(352-354)ctG>ctC	p.L118L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	209					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)	GTTTCGTCCTGATCCTGGAGA	0.607			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.(352-354)CTG>CTC		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						72.0	84.0	79.0					6																	37139014		2203	4300	6503	SO:0001819	synonymous_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.chr6:37139014G>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.354G>C	6.37:g.37139014G>C						PIM1_uc011dtw.1_5'Flank	p.L118L	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		4	784	+			209			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.354G>C	CCDS4830.1																																																																																				0.607	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			7	125	0	0	0	0.001984	0	7	125				
KCNK17	89822	broad.mit.edu	37	6	39267446	39267446	+	Silent	SNP	C	C	T	rs375879562		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:39267446C>T	ENST00000373231.4	-	5	988	c.756G>A	c.(754-756)ggG>ggA	p.G252G	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	252					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCATGCCATCCCAAAGAGGA	0.562																																							uc003ooo.2		NA																	0				skin(2)	2						c.(754-756)GGG>GGA		potassium channel, subfamily K, member 17		C	,	0,4406		0,0,2203	141.0	137.0	138.0		,756	2.8	1.0	6		138	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,coding-synonymous	KCNK17	NM_001135111.1,NM_031460.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,252/333	39267446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39267446C>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.756G>A	6.37:g.39267446C>T						KCNK17_uc003oop.2_3'UTR	p.G252G	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			5	896	-			252			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Silent	SNP	ENST00000373231.4	37	c.756G>A	CCDS4842.1																																																																																				0.562	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		19	92	0	0	0	0.001216	0	19	92				
TREML2	79865	broad.mit.edu	37	6	41162309	41162309	+	Silent	SNP	C	C	T	rs143539514	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:41162309C>T	ENST00000483722.1	-	3	824	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	213					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCTGGGAGACGCGGTCACTG	0.627																																							uc010jxm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(637-639)GCG>GCA		triggering receptor expressed on myeloid		C		1,4405	2.1+/-5.4	0,1,2202	110.0	97.0	101.0		639	-8.6	0.0	6	dbSNP_134	101	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous	TREML2	NM_024807.2		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		213/322	41162309	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162309C>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.639G>A	6.37:g.41162309C>T							p.A213A	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			3	818	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		213			Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.639G>A	CCDS4853.2																																																																																				0.627	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		5	30	0	0	0	0.000602	0	5	30				
FOXP4	116113	broad.mit.edu	37	6	41533600	41533600	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:41533600C>A	ENST00000307972.4	+	1	114	c.102C>A	c.(100-102)gcC>gcA	p.A34A	FOXP4_ENST00000373057.3_Silent_p.A34A|FOXP4_ENST00000409208.1_Silent_p.A34A|FOXP4_ENST00000373060.1_Silent_p.A34A|FOXP4_ENST00000373063.3_Silent_p.A34A			Q8IVH2	FOXP4_HUMAN	forkhead box P4	34					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCGGCGGGGCCACAGGGACAA	0.622																																							uc003oql.2		NA																	0				breast(1)	1						c.(100-102)GCC>GCA		forkhead box P4 isoform 1							76.0	78.0	77.0					6																	41533600		2203	4300	6503	SO:0001819	synonymous_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41533600C>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.102C>A	6.37:g.41533600C>A						FOXP4_uc003oqm.2_Silent_p.A34A|FOXP4_uc003oqn.2_Silent_p.A34A	p.A34A	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN			2	560	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		34					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	c.102C>A	CCDS34447.1																																																																																				0.622	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		25	69	1	0	4.02929e-09	0.002096	6.24144e-09	25	69				
SLC22A7	10864	broad.mit.edu	37	6	43271888	43271888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:43271888G>T	ENST00000372585.5	+	10	1593	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G498W|ZNF318_ENST00000607252.1_5'Flank|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G498W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	500					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|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)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TACTTATGGGGGGATCGCCCT	0.662																																							uc003out.2		NA																	0					0						c.(1498-1500)GGG>TGG		solute carrier family 22 member 7 isoform b							65.0	74.0	71.0					6																	43271888		2203	4299	6502	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43271888G>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1498G>T	6.37:g.43271888G>T	ENSP00000361666:p.Gly500Trp					SLC22A7_uc003ous.2_Missense_Mutation_p.G498W	p.G500W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		10	1597	+			500			Helical; (Potential).		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1498G>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686106	0.68157	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.25	4.32	0.51571	.	0.182292	0.46758	D	0.000272	T	0.70622	0.3245	M	0.88241	2.94	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.66497	0.944;0.944	T	0.72786	-0.4188	10	0.40728	T	0.16	.	11.8558	0.52437	0.0:0.0:0.8251:0.1749	.	498;498	Q9Y694-2;Q9Y694-3	.;.	W	498;500;498;193	ENSP00000361670:G498W;ENSP00000361666:G500W;ENSP00000361655:G498W;ENSP00000393836:G193W	ENSP00000361655:G498W	G	+	1	0	SLC22A7	43379866	0.037000	0.19845	0.995000	0.50966	0.975000	0.68041	1.593000	0.36686	2.449000	0.82847	0.491000	0.48974	GGG		0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			32	87	1	0	8.16721e-17	0.002096	1.50874e-16	32	87				
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:44144372G>T	ENST00000398776.1	+	10	1094	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	CAPN11_ENST00000542245.1_Missense_Mutation_p.K352N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	352	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627																																							uc003owt.1		NA																	0				ovary(1)|breast(1)	2						c.(1054-1056)AAG>AAT		calpain 11							95.0	110.0	105.0					6																	44144372		2100	4239	6339	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144372G>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1056G>T	6.37:g.44144372G>T	ENSP00000381758:p.Lys352Asn					CAPN11_uc011dvn.1_Missense_Mutation_p.K6N	p.K352N	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1094	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		352			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1056G>T	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	6.307	0.424745	0.11987	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88201	-2.35;-2.35	4.57	3.67	0.42095	Peptidase C2, calpain, catalytic domain (3);	1.062400	0.07341	N	0.880819	T	0.77611	0.4156	L	0.42529	1.33	0.22521	N	0.99902	B;B	0.21309	0.015;0.054	B;B	0.17433	0.018;0.012	T	0.70000	-0.4992	10	0.45353	T	0.12	.	13.5874	0.61940	0.0:0.1569:0.8431:0.0	.	6;352	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	352	ENSP00000381758:K352N;ENSP00000441078:K352N	ENSP00000381758:K352N	K	+	3	2	CAPN11	44252350	0.011000	0.17503	0.497000	0.27552	0.015000	0.08874	1.245000	0.32790	1.111000	0.41721	0.543000	0.68304	AAG		0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			11	45	1	0	3.07112e-06	0.000978	4.16617e-06	11	45				
TCTE1	202500	broad.mit.edu	37	6	44254012	44254012	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:44254012C>G	ENST00000371505.4	-	3	657	c.535G>C	c.(535-537)Gac>Cac	p.D179H	TCTE1_ENST00000371503.3_Missense_Mutation_p.D26H|TCTE1_ENST00000371504.1_Missense_Mutation_p.D26H|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	179										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCAGCAGGTCGAGGATCACC	0.647																																							uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(535-537)GAC>CAC		t-complex-associated testis expressed 1							41.0	35.0	37.0					6																	44254012		2202	4300	6502	SO:0001583	missense	202500							g.chr6:44254012C>G	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.535G>C	6.37:g.44254012C>G	ENSP00000360560:p.Asp179His					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.D179H	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	691	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		179					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.535G>C	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684602	0.47991	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.49139	1.86;0.79;0.79	5.0	3.18	0.36537	.	0.365044	0.33401	N	0.004943	T	0.45337	0.1337	M	0.71581	2.175	0.45205	D	0.998217	D	0.63880	0.993	P	0.54431	0.752	T	0.47886	-0.9082	10	0.54805	T	0.06	-25.6346	10.5555	0.45114	0.0:0.838:0.0:0.162	.	179	Q5JU00	TCTE1_HUMAN	H	179;26;26	ENSP00000360560:D179H;ENSP00000360558:D26H;ENSP00000360559:D26H	ENSP00000360558:D26H	D	-	1	0	TCTE1	44361990	0.587000	0.26791	0.995000	0.50966	0.379000	0.30106	2.464000	0.45067	0.490000	0.27771	-0.379000	0.06801	GAC		0.647	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		5	30	0	0	0	0.000602	0	5	30				
GPR111	222611	broad.mit.edu	37	6	47646726	47646726	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:47646726C>T	ENST00000296862.1	+	4	327	c.327C>T	c.(325-327)tgC>tgT	p.C109C	GPR111_ENST00000398742.2_Silent_p.C41C|GPR111_ENST00000507065.1_Silent_p.C41C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	109					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGGTGTATGCGATGGTGTCT	0.517																																							uc010jzj.1		NA																	0				skin(1)	1						c.(325-327)TGC>TGT		G-protein coupled receptor 111							130.0	124.0	126.0					6																	47646726		1954	4158	6112	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47646726C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.327C>T	6.37:g.47646726C>T						GPR111_uc010jzk.1_Silent_p.C41C|GPR111_uc003oyy.2_RNA	p.C109C	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			4	328	+			109			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.327C>T																																																																																					0.517	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		12	55	0	0	0	0.001855	0	12	55				
PTCHD4	442213	broad.mit.edu	37	6	47847488	47847488	+	Silent	SNP	C	C	A	rs534073402		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:47847488C>A	ENST00000339488.4	-	3	1125	c.1092G>T	c.(1090-1092)gtG>gtT	p.V364V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	364	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGAAGACCTTCACAGCCTCTA	0.458																																							uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(1039-1041)GTG>GTT		hypothetical protein LOC442213							84.0	83.0	83.0					6																	47847488		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847488C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1092G>T	6.37:g.47847488C>A						C6orf138_uc011dwn.1_Silent_p.V111V	p.V347V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1126	-			364			SSD.		B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1041G>T	CCDS34473.2																																																																																				0.458	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		6	37	1	0	2.0095e-06	0.001984	2.76512e-06	6	37				
DEFB110	245913	broad.mit.edu	37	6	49986727	49986727	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:49986727C>A	ENST00000371148.2	-	2	212	c.167G>T	c.(166-168)tGc>tTc	p.C56F	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	56					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					AGGTCTTATGCAGTAAGCAAT	0.408																																							uc003pac.2		NA																	0				ovary(1)	1						c.(166-168)TGC>TTC		beta-defensin 110 isoform a							152.0	127.0	136.0					6																	49986727		2203	4300	6503	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49986727C>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.167G>T	6.37:g.49986727C>A	ENSP00000360190:p.Cys56Phe					DEFB110_uc011dwr.1_Intron	p.C56F	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			2	213	-	Lung NSC(77;0.042)		56					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.167G>T	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600810	0.46423	.	.	ENSG00000203970	ENST00000371148	T	0.75938	-0.98	5.03	2.18	0.27775	.	0.000000	0.53938	D	0.000047	T	0.60483	0.2272	.	.	.	0.40322	D	0.978833	P	0.38551	0.636	P	0.47827	0.558	T	0.58814	-0.7570	8	.	.	.	-8.2767	5.919	0.19072	0.3371:0.5728:0.0:0.0901	.	56	Q30KQ9	DB110_HUMAN	F	56	ENSP00000360190:C56F	.	C	-	2	0	DEFB110	50094686	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.644000	0.24766	0.682000	0.31407	-0.122000	0.15005	TGC		0.408	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		10	45	1	0	1.76689e-08	0.006214	2.64247e-08	10	45				
TFAP2D	83741	broad.mit.edu	37	6	50686838	50686838	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:50686838T>A	ENST00000008391.3	+	3	801	c.573T>A	c.(571-573)aaT>aaA	p.N191K	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTGTTCTCAATGGCCAAGGTG	0.388																																							uc003paf.2		NA																	0				ovary(6)|breast(1)	7						c.(571-573)AAT>AAA		transcription factor AP-2 beta-like 1							127.0	118.0	121.0					6																	50686838		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50686838T>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.573T>A	6.37:g.50686838T>A	ENSP00000008391:p.Asn191Lys					TFAP2D_uc011dwt.1_RNA	p.N191K	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			3	1085	+	Lung NSC(77;0.0334)		191						Missense_Mutation	SNP	ENST00000008391.3	37	c.573T>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352617	0.41700	.	.	ENSG00000008197	ENST00000008391	D	0.97114	-4.25	5.87	2.31	0.28768	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	N	0.08118	0	0.58432	D	0.999998	D	0.53885	0.963	P	0.44359	0.447	D	0.84023	0.0355	10	0.05959	T	0.93	-19.4745	6.8063	0.23779	0.0:0.4774:0.0:0.5226	.	191	Q7Z6R9	AP2D_HUMAN	K	191	ENSP00000008391:N191K	ENSP00000008391:N191K	N	+	3	2	TFAP2D	50794797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.615000	0.46368	0.501000	0.28013	0.533000	0.62120	AAT		0.388	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		10	17	0	0	0	0.001855	0	10	17				
TFAP2B	7021	broad.mit.edu	37	6	50791195	50791195	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:50791195A>T	ENST00000393655.3	+	2	326	c.157A>T	c.(157-159)Agc>Tgc	p.S53C	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.S62C	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	53	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCCTACTCGAGCGCCCCGCC	0.697																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(157-159)AGC>TGC		transcription factor AP-2 beta							23.0	29.0	27.0					6																	50791195		2199	4298	6497	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791195A>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.157A>T	6.37:g.50791195A>T	ENSP00000377265:p.Ser53Cys						p.S53C	NM_003221	NP_003212	Q92481	AP2B_HUMAN			2	323	+	Lung NSC(77;0.156)		53			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.157A>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461508	0.84317	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.84298	-1.83;-1.83;-1.83	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.76328	2.33	0.80722	D	1	P	0.51653	0.947	B	0.40741	0.339	T	0.83152	-0.0103	10	0.52906	T	0.07	-5.4692	14.7283	0.69360	1.0:0.0:0.0:0.0	.	53	Q92481	AP2B_HUMAN	C	53;51;62	ENSP00000377265:S53C;ENSP00000342252:S51C;ENSP00000263046:S62C	ENSP00000263046:S62C	S	+	1	0	TFAP2B	50899154	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.209000	0.95087	1.890000	0.54733	0.460000	0.39030	AGC		0.697	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	19	0	0	0	0.000602	0	5	19				
PKHD1	5314	broad.mit.edu	37	6	51777291	51777292	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:51777291_51777292CC>AA	ENST00000371117.3	-	38	6479_6480	c.6204_6205GG>TT	c.(6202-6207)gtGGac>gtTTac	p.D2069Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.D2069Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2069					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)					GGGTTCCAGTCCACAGCATCTT	0.49																																							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.(6202-6207)GTGGAC>GTTTAC		fibrocystin isoform 1																																				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.chr6:51777291_51777292CC>AA	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.6204_6205delinsAA	6.37:g.51777291_51777292delinsAA	ENSP00000360158:p.Asp2069Tyr					PKHD1_uc010jzn.1_Missense_Mutation_p.D94Y|PKHD1_uc003pai.2_Missense_Mutation_p.D2069Y	p.D2069Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			38	6480_6481	-	Lung NSC(77;0.0605)		2069			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	DNP	ENST00000371117.3	37	c.6204_6205GG>TT	CCDS4935.1																																																																																				0.490	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	102	0	0	0	0.004672	0	22	102				
PKHD1	5314	broad.mit.edu	37	6	51935236	51935236	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:51935236C>A	ENST00000371117.3	-	10	950	c.675G>T	c.(673-675)caG>caT	p.Q225H	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q225H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	225	IPT/TIG 2.				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)					AGCTAACATTCTGGGAGCCTG	0.388																																							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.(673-675)CAG>CAT		fibrocystin isoform 1							105.0	99.0	101.0					6																	51935236		2203	4300	6503	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.chr6:51935236C>A	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.675G>T	6.37:g.51935236C>A	ENSP00000360158:p.Gln225His					PKHD1_uc003pai.2_Missense_Mutation_p.Q225H	p.Q225H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			10	951	-	Lung NSC(77;0.0605)		225			IPT/TIG 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.675G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256762	0.22965	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-2.0;-2.2	5.24	4.37	0.52481	.	0.101634	0.43260	D	0.000596	T	0.51702	0.1690	N	0.25286	0.73	0.28228	N	0.926228	B;B	0.31931	0.347;0.126	B;B	0.26416	0.069;0.015	T	0.45101	-0.9284	10	0.08599	T	0.76	.	4.3658	0.11223	0.1592:0.6018:0.154:0.085	.	225;225	P08F94-2;P08F94	.;PKHD1_HUMAN	H	225	ENSP00000360158:Q225H;ENSP00000341097:Q225H	ENSP00000341097:Q225H	Q	-	3	2	PKHD1	52043195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.765000	0.26546	1.221000	0.43506	0.644000	0.83932	CAG		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	27	1	0	4.7546e-09	0.004007	7.32274e-09	15	27				
MLIP	90523	broad.mit.edu	37	6	53986316	53986316	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:53986316C>A	ENST00000274897.5	+	2	248	c.135C>A	c.(133-135)acC>acA	p.T45T	MLIP_ENST00000514921.1_Silent_p.T45T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Silent_p.T39T|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Silent_p.T56T	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	45						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTACCAACCCATACTCAGT	0.393																																							uc003pcg.3		NA																	0					0						c.(133-135)ACC>ACA		hypothetical protein LOC90523							122.0	119.0	120.0					6																	53986316		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53986316C>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.135C>A	6.37:g.53986316C>A						C6orf142_uc003pcf.2_Silent_p.T45T|C6orf142_uc003pch.3_Intron|C6orf142_uc011dwz.1_Intron|C6orf142_uc011dxa.1_Silent_p.T56T	p.T45T	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			2	248	+	Lung NSC(77;0.0317)		45					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.135C>A	CCDS4954.1																																																																																				0.393	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		27	82	1	0	5.45727e-16	0.008361	9.89084e-16	27	82				
FAM83B	222584	broad.mit.edu	37	6	54806636	54806636	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:54806636C>A	ENST00000306858.7	+	5	2983	c.2867C>A	c.(2866-2868)aCc>aAc	p.T956N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	956										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATGCCAAATACCAGTATAAAT	0.413																																							uc003pck.2		NA																	0				ovary(6)	6						c.(2866-2868)ACC>AAC		hypothetical protein LOC222584							87.0	86.0	86.0					6																	54806636		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806636C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2867C>A	6.37:g.54806636C>A	ENSP00000304078:p.Thr956Asn						p.T956N	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2983	+	Lung NSC(77;0.0178)|Renal(3;0.122)		956					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2867C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.384998	0.11524	.	.	ENSG00000168143	ENST00000306858	T	0.30714	1.52	5.76	1.75	0.24633	.	0.978587	0.08383	N	0.954271	T	0.13243	0.0321	L	0.44542	1.39	0.09310	N	1	B	0.24823	0.112	B	0.19148	0.024	T	0.38564	-0.9655	10	0.59425	D	0.04	-1.3685	14.4516	0.67389	0.0:0.2748:0.6575:0.0677	.	956	Q5T0W9	FA83B_HUMAN	N	956	ENSP00000304078:T956N	ENSP00000304078:T956N	T	+	2	0	FAM83B	54914595	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.162000	0.16501	0.029000	0.15352	0.655000	0.94253	ACC		0.413	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		17	56	1	0	9.16793e-09	0.00499	1.38968e-08	17	56				
HCRTR2	3062	broad.mit.edu	37	6	55142304	55142304	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:55142304C>G	ENST00000370862.3	+	5	1225	c.889C>G	c.(889-891)Cga>Gga	p.R297G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	297					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCAGATCCGAGCCAGAAG	0.493																																							uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(889-891)CGA>GGA		orexin receptor 2							96.0	96.0	96.0					6																	55142304		2202	4300	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142304C>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.889C>G	6.37:g.55142304C>G	ENSP00000359899:p.Arg297Gly					HCRTR2_uc010jzv.2_RNA	p.R297G	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1204	+	Lung NSC(77;0.107)|Renal(3;0.122)		297			Cytoplasmic (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.889C>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062724	0.76187	.	.	ENSG00000137252	ENST00000370862	T	0.72394	-0.65	6.06	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.120729	0.53938	D	0.000046	T	0.79191	0.4404	M	0.78637	2.42	0.42835	D	0.994036	D	0.55605	0.972	D	0.64321	0.924	T	0.82816	-0.0270	10	0.59425	D	0.04	.	16.3239	0.82965	0.277:0.723:0.0:0.0	.	297	O43614	OX2R_HUMAN	G	297	ENSP00000359899:R297G	ENSP00000359899:R297G	R	+	1	2	HCRTR2	55250263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.789000	0.47813	1.531000	0.49152	0.650000	0.86243	CGA		0.493	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			6	29	0	0	0	0.001168	0	6	29				
DST	667	broad.mit.edu	37	6	56504830	56504830	+	Missense_Mutation	SNP	C	C	A	rs560034118		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:56504830C>A	ENST00000361203.3	-	15	1890	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V	DST_ENST00000370765.6_Missense_Mutation_p.G302V|DST_ENST00000370754.5_Missense_Mutation_p.G806V|DST_ENST00000446842.2_Missense_Mutation_p.G302V|DST_ENST00000518935.1_Missense_Mutation_p.G302V|DST_ENST00000244364.6_Missense_Mutation_p.G302V|DST_ENST00000312431.6_Missense_Mutation_p.G628V|DST_ENST00000370788.2_Missense_Mutation_p.G628V|DST_ENST00000421834.2_Missense_Mutation_p.G628V|DST_ENST00000370769.4_Missense_Mutation_p.G628V			Q03001	DYST_HUMAN	dystonin	628					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)			CAAATCTGAGCCCCACTCAGT	0.333																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2416-2418)GGC>GTC		dystonin isoform 2							61.0	65.0	64.0					6																	56504830		2203	4299	6502	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.chr6:56504830C>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.1883G>T	6.37:g.56504830C>A	ENSP00000354508:p.Gly628Val					DST_uc003pcz.3_Missense_Mutation_p.G628V|DST_uc011dxj.1_Missense_Mutation_p.G657V|DST_uc011dxk.1_Missense_Mutation_p.G668V|DST_uc011dxl.1_Missense_Mutation_p.G657V|DST_uc003pcy.3_Missense_Mutation_p.G302V|DST_uc003pdb.2_Missense_Mutation_p.G302V|DST_uc003pdc.3_Missense_Mutation_p.G302V|DST_uc003pdd.3_Missense_Mutation_p.G302V|DST_uc003pde.2_Missense_Mutation_p.G744V	p.G806V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		18	2445	-	Lung NSC(77;0.103)		628					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.2417G>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.582793	0.86748	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.45	5.45	0.79879	.	0.000000	0.49916	D	0.000138	D	0.98979	0.9652	M	0.80616	2.505	0.37210	D	0.904746	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998	D	0.99840	1.1061	9	0.87932	D	0	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	657;628;628;806;744;302;302;302;628;302	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	302;806;628;628;302;628;628;628;302;668;302;302	ENSP00000244364:G302V;ENSP00000359790:G806V;ENSP00000359805:G628V;ENSP00000400883:G628V;ENSP00000393645:G302V;ENSP00000307959:G628V;ENSP00000359824:G628V;ENSP00000354508:G628V;ENSP00000404924:G302V;ENSP00000431030:G668V;ENSP00000359801:G302V;ENSP00000431003:G302V	ENSP00000244364:G302V	G	-	2	0	DST	56612789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.836000	0.97738	0.655000	0.94253	GGC		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		20	55	1	0	1.50039e-11	0.001882	2.49693e-11	20	55				
EYS	346007	broad.mit.edu	37	6	66205175	66205175	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:66205175C>A	ENST00000370621.3	-	4	655	c.129G>T	c.(127-129)tgG>tgT	p.W43C	EYS_ENST00000393380.2_Missense_Mutation_p.W43C|EYS_ENST00000370618.3_Missense_Mutation_p.W43C|EYS_ENST00000503581.1_Missense_Mutation_p.W43C|EYS_ENST00000370616.2_Missense_Mutation_p.W43C|EYS_ENST00000342421.5_Missense_Mutation_p.W43C			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	43					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGTTAGTGTCCAATTTACCA	0.408																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(127-129)TGG>TGT		eyes shut homolog isoform 1							110.0	109.0	110.0					6																	66205175		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205175C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.129G>T	6.37:g.66205175C>A	ENSP00000359655:p.Trp43Cys					EYS_uc003peq.2_Missense_Mutation_p.W43C|EYS_uc003per.1_Missense_Mutation_p.W43C|EYS_uc010kaj.1_RNA	p.W43C	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	667	-			43					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.129G>T		.	.	.	.	.	.	.	.	.	.	C	18.52	3.642521	0.67244	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.94537	-3.26;-3.24;-3.24;-3.45;-3.36;-3.36	5.13	5.13	0.70059	.	.	.	.	.	D	0.91061	0.7187	N	0.24115	0.695	0.47308	D	0.999381	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.982;0.991;0.98	D	0.88267	0.2927	9	0.02654	T	1	.	15.67	0.77267	0.0:1.0:0.0:0.0	.	43;43;43	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	C	43	ENSP00000424243:W43C;ENSP00000359655:W43C;ENSP00000359650:W43C;ENSP00000377042:W43C;ENSP00000341818:W43C;ENSP00000359652:W43C	ENSP00000341818:W43C	W	-	3	0	EYS	66261896	1.000000	0.71417	0.577000	0.28562	0.834000	0.47266	4.502000	0.60400	2.521000	0.84997	0.591000	0.81541	TGG		0.408	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		33	110	1	0	4.62619e-21	0.004289	8.95241e-21	33	110				
BAI3	577	broad.mit.edu	37	6	70049390	70049390	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:70049390G>T	ENST00000370598.1	+	26	4274	c.3453G>T	c.(3451-3453)cgG>cgT	p.R1151R	BAI3_ENST00000546190.1_Silent_p.R115R|BAI3_ENST00000238918.8_Silent_p.R357R	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1151					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)				GCATTCTTCGGAGAGAGGTGA	0.368																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3451-3453)CGG>CGT		brain-specific angiogenesis inhibitor 3							176.0	168.0	171.0					6																	70049390		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049390G>T	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	ENST00000370598.1:c.3453G>T	6.37:g.70049390G>T						BAI3_uc010kak.2_Silent_p.R1151R|BAI3_uc011dxx.1_Silent_p.R357R|BAI3_uc003pex.1_Silent_p.R281R	p.R1151R	NM_001704	NP_001695	O60242	BAI3_HUMAN			26	3901	+		all_lung(197;0.212)	1151			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3453G>T	CCDS4968.1																																																																																				0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			37	116	1	0	1.60099e-16	0.004878	2.94537e-16	37	116				
COL19A1	1310	broad.mit.edu	37	6	70639516	70639516	+	Missense_Mutation	SNP	C	C	A	rs200842660		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:70639516C>A	ENST00000322773.4	+	6	692	c.590C>A	c.(589-591)aCt>aAt	p.T197N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	197	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGGCAGACTGATGAAAAG	0.428																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(589-591)ACT>AAT		alpha 1 type XIX collagen precursor							112.0	106.0	108.0					6																	70639516		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639516C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.590C>A	6.37:g.70639516C>A	ENSP00000316030:p.Thr197Asn					COL19A1_uc010kam.1_Missense_Mutation_p.T93N	p.T197N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	707	+			197			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.590C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	4.023	0.001811	0.07819	.	.	ENSG00000082293	ENST00000322773	T	0.02177	4.41	5.64	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.130223	0.50627	D	0.000117	T	0.03011	0.0089	L	0.59436	1.845	0.80722	D	1	D	0.57899	0.981	P	0.51974	0.686	T	0.50189	-0.8857	10	0.54805	T	0.06	.	13.7393	0.62838	0.0:0.9233:0.0:0.0767	.	197	Q14993	COJA1_HUMAN	N	197	ENSP00000316030:T197N	ENSP00000316030:T197N	T	+	2	0	COL19A1	70696237	0.978000	0.34361	0.035000	0.18076	0.028000	0.11728	2.347000	0.44036	1.302000	0.44855	0.655000	0.94253	ACT		0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			20	62	1	0	1.01871e-10	0.001216	1.65433e-10	20	62				
SNX14	57231	broad.mit.edu	37	6	86243356	86243356	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:86243356C>T	ENST00000314673.3	-	18	1947	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.V538M|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.V539M|SNX14_ENST00000369627.2_Missense_Mutation_p.V582M	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	591	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATACAAAACACAGGAATTCTT	0.388																																							uc003pkr.2		NA																	0					0						c.(1771-1773)GTG>ATG		sorting nexin 14 isoform a							77.0	81.0	80.0					6																	86243356		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86243356C>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1771G>A	6.37:g.86243356C>T	ENSP00000313121:p.Val591Met					SNX14_uc003pkp.2_Missense_Mutation_p.V454M|SNX14_uc003pkq.2_Missense_Mutation_p.V197M|SNX14_uc011dzg.1_Missense_Mutation_p.V539M|SNX14_uc003pks.2_Missense_Mutation_p.V538M|SNX14_uc003pkt.2_Missense_Mutation_p.V582M	p.V591M	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	18	1964	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	591			PX.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1771G>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177744	0.57692	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.0	5.0	0.66597	Phox homologous domain (5);	0.129405	0.52532	D	0.000077	T	0.52853	0.1760	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.984;0.995	D;D;D;P	0.68621	0.956;0.931;0.959;0.89	T	0.56275	-0.8006	10	0.62326	D	0.03	-1.2473	18.2762	0.90084	0.0:1.0:0.0:0.0	.	582;538;591;539	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	M	538;48;591;539;582;509	ENSP00000257769:V538M;ENSP00000313121:V591M;ENSP00000427380:V539M;ENSP00000358641:V582M;ENSP00000425630:V509M	ENSP00000313121:V591M	V	-	1	0	SNX14	86300075	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	7.468000	0.80943	2.336000	0.79503	0.655000	0.94253	GTG		0.388	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		11	58	0	0	0	0.008291	0	11	58				
HTR1E	3354	broad.mit.edu	37	6	87726017	87726017	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:87726017C>A	ENST00000305344.5	+	2	1668	c.965C>A	c.(964-966)tCc>tAc	p.S322Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	322					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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 cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TACACCGTGTCCTCGGAAGTG	0.473																																							uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(964-966)TCC>TAC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						158.0	165.0	163.0					6																	87726017		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726017C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.965C>A	6.37:g.87726017C>A	ENSP00000307766:p.Ser322Tyr						p.S322Y	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1668	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	322			Extracellular (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.965C>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066068	0.20067	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.37915	1.17;1.17	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000029	T	0.57489	0.2057	M	0.85777	2.775	0.58432	D	0.999998	D	0.63046	0.992	D	0.71184	0.972	T	0.65598	-0.6129	10	0.56958	D	0.05	.	17.4189	0.87508	0.0:1.0:0.0:0.0	.	322	P28566	5HT1E_HUMAN	Y	322	ENSP00000307766:S322Y;ENSP00000358597:S322Y	ENSP00000307766:S322Y	S	+	2	0	HTR1E	87782736	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.320000	0.79064	2.119000	0.64992	0.407000	0.27541	TCC		0.473	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		34	187	1	0	3.76114e-14	0.004289	6.67266e-14	34	187				
HTR1E	3354	broad.mit.edu	37	6	87726077	87726077	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:87726077T>A	ENST00000305344.5	+	2	1728	c.1025T>A	c.(1024-1026)cTg>cAg	p.L342Q		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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 cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATCAACCCTCTGCTCTATACG	0.433																																							uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(1024-1026)CTG>CAG		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						101.0	108.0	105.0					6																	87726077		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726077T>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1025T>A	6.37:g.87726077T>A	ENSP00000307766:p.Leu342Gln						p.L342Q	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1728	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	342			Helical; Name=7; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.1025T>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752102	0.69533	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.46451	0.87;0.87	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000213	T	0.69178	0.3082	H	0.96333	3.805	0.47276	D	0.999372	D	0.76494	0.999	D	0.80764	0.994	T	0.80768	-0.1235	10	0.87932	D	0	.	13.9869	0.64341	0.0:0.0:0.0:1.0	.	342	P28566	5HT1E_HUMAN	Q	342	ENSP00000307766:L342Q;ENSP00000358597:L342Q	ENSP00000307766:L342Q	L	+	2	0	HTR1E	87782796	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.528000	0.81941	1.721000	0.51461	0.334000	0.21626	CTG		0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		48	120	0	0	0	0.003214	0	48	120				
GABRR1	2569	broad.mit.edu	37	6	89909117	89909117	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:89909117C>G	ENST00000454853.2	-	4	422	c.312G>C	c.(310-312)caG>caC	p.Q104H	GABRR1_ENST00000435811.1_Missense_Mutation_p.Q87H|GABRR1_ENST00000369451.3_Missense_Mutation_p.Q17H	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	104					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AACTCTCCACCTGCACATCCA	0.522																																							uc003pna.2		NA																	0				pancreas(1)	1						c.(310-312)CAG>CAC		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						105.0	85.0	92.0					6																	89909117		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89909117C>G		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.312G>C	6.37:g.89909117C>G	ENSP00000412673:p.Gln104His					GABRR1_uc011dzv.1_Missense_Mutation_p.Q81H	p.Q104H	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	4	767	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	104			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.312G>C	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274175	0.40194	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.77358	-1.09;-1.09;-1.09	5.91	3.8	0.43715	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.16201	0.385	0.51012	D	0.9999	B;P	0.41102	0.343;0.738	B;P	0.44921	0.211;0.464	T	0.49244	-0.8960	9	.	.	.	-24.0225	4.3786	0.11283	0.0:0.513:0.0:0.487	.	87;104	P24046-2;P24046	.;GBRR1_HUMAN	H	104;87;17;17	ENSP00000412673:Q104H;ENSP00000394687:Q87H;ENSP00000358463:Q17H	.	Q	-	3	2	GABRR1	89965836	0.999000	0.42202	1.000000	0.80357	0.923000	0.55619	0.603000	0.24149	1.407000	0.46875	-0.345000	0.07892	CAG		0.522	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			10	38	0	0	0	0.001368	0	10	38				
FHL5	9457	broad.mit.edu	37	6	97063629	97063629	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:97063629G>T	ENST00000326771.2	+	7	1216	c.836G>T	c.(835-837)gGa>gTa	p.G279V	FHL5_ENST00000541107.1_Missense_Mutation_p.G279V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	279	LIM zinc-binding 4. {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)			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)		TGTGGCTCCGGAATGGACACT	0.468																																							uc003pos.1		NA																	0				ovary(2)	2						c.(835-837)GGA>GTA		activator of cAMP-responsive element modulator							76.0	72.0	73.0					6																	97063629		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97063629G>T	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.836G>T	6.37:g.97063629G>T	ENSP00000326022:p.Gly279Val					FHL5_uc003pot.1_Missense_Mutation_p.G279V	p.G279V	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1241	+		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)	279			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.836G>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098105	0.37048	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	T;T	0.57595	0.39;0.39	5.65	4.67	0.58626	Zinc finger, LIM-type (1);	0.000000	0.40818	N	0.001009	T	0.21227	0.0511	N	0.14661	0.345	0.19300	N	0.999974	P	0.37276	0.589	B	0.43018	0.405	T	0.04360	-1.0957	10	0.54805	T	0.06	.	4.7718	0.13160	0.1321:0.2246:0.6433:0.0	.	279	Q5TD97	FHL5_HUMAN	V	279	ENSP00000442357:G279V;ENSP00000326022:G279V	ENSP00000326022:G279V	G	+	2	0	FHL5	97170350	0.967000	0.33354	0.073000	0.20177	0.046000	0.14306	2.812000	0.47994	2.652000	0.90054	0.650000	0.86243	GGA		0.468	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		8	39	1	0	1.06961e-07	0.00308	1.55129e-07	8	39				
FAXC	84553	broad.mit.edu	37	6	99729269	99729269	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:99729269C>A	ENST00000389677.5	-	6	1283	c.1001G>T	c.(1000-1002)tGg>tTg	p.W334L	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.W54L	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	334						integral component of membrane (GO:0016021)											ATCGTGGTGCCACTCTGGCCA	0.483																																							uc003ppj.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1000-1002)TGG>TTG		hypothetical protein LOC84553							140.0	133.0	135.0					6																	99729269		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729269C>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1001G>T	6.37:g.99729269C>A	ENSP00000374328:p.Trp334Leu					C6orf168_uc003ppi.3_Missense_Mutation_p.W54L	p.W334L	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.073)	6	1284	-		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)	334					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1001G>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577331	0.86645	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	5.29	0.74685	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84372	0.0544	9	0.87932	D	0	-16.2417	18.9562	0.92659	0.0:1.0:0.0:0.0	.	334	Q5TGI0	CF168_HUMAN	L	334;54	.	ENSP00000374328:W334L	W	-	2	0	C6orf168	99835990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.459000	0.83118	0.655000	0.94253	TGG		0.483	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		25	81	1	0	4.59853e-10	0.005443	7.31733e-10	25	81				
ASCC3	10973	broad.mit.edu	37	6	100960595	100960596	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100960595_100960596CC>AA	ENST00000369162.2	-	40	6618_6619	c.6274_6275GG>TT	c.(6274-6276)GGg>TTg	p.G2092L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2092	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTGTGGAACCCAAAGTGGACT	0.431																																							uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(6274-6276)GGG>TTG		activating signal cointegrator 1 complex subunit																																				SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100960595_100960596CC>AA	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6274_6275delinsAA	6.37:g.100960595_100960596delinsAA	ENSP00000358159:p.Gly2092Leu						p.G2092L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	40	6603_6604	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	2092					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	DNP	ENST00000369162.2	37	c.6274_6275GG>TT	CCDS5046.1																																																																																				0.431	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		17	52	0	0	0	0.004672	0	17	52				
ASCC3	10973	broad.mit.edu	37	6	100965956	100965956	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100965956C>G	ENST00000369162.2	-	38	6182	c.5838G>C	c.(5836-5838)ctG>ctC	p.L1946L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1946	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCATCTGAATCAGGTTGGTGA	0.433																																							uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5836-5838)CTG>CTC		activating signal cointegrator 1 complex subunit							91.0	83.0	86.0					6																	100965956		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100965956C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5838G>C	6.37:g.100965956C>G							p.L1946L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	38	6167	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1946			SEC63 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.5838G>C	CCDS5046.1																																																																																				0.433	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		20	58	0	0	0	0.001216	0	20	58				
HACE1	57531	broad.mit.edu	37	6	105300216	105300216	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:105300216G>A	ENST00000262903.4	-	2	383	c.107C>T	c.(106-108)cCa>cTa	p.P36L	HACE1_ENST00000369125.2_Missense_Mutation_p.P36L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	36					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATAACCATTGGCATTAATGT	0.353																																							uc003pqu.1		NA																	0				ovary(5)|lung(2)	7						c.(106-108)CCA>CTA		HECT domain and ankyrin repeat containing, E3							80.0	76.0	78.0					6																	105300216		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105300216G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.107C>T	6.37:g.105300216G>A	ENSP00000262903:p.Pro36Leu					HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P36L	p.P36L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	2	384	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	36					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.107C>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709773	0.89018	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.69306	-0.39;-0.39;-0.39;1.13	5.05	5.05	0.67936	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	L	0.56199	1.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.77316	-0.2633	10	0.72032	D	0.01	.	17.535	0.87827	0.0:0.0:1.0:0.0	.	36;36	E9PGP0;Q8IYU2	.;HACE1_HUMAN	L	36;36;36;2	ENSP00000262903:P36L;ENSP00000358121:P36L;ENSP00000429765:P36L;ENSP00000427901:P2L	ENSP00000262903:P36L	P	-	2	0	HACE1	105406909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.498000	0.90492	2.491000	0.84063	0.585000	0.79938	CCA		0.353	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	32	0	0	0	0.008291	0	10	32				
BVES	11149	broad.mit.edu	37	6	105564715	105564715	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:105564715C>A	ENST00000314641.5	-	6	893	c.677G>T	c.(676-678)aGa>aTa	p.R226I	BVES_ENST00000446408.2_Missense_Mutation_p.R226I|BVES_ENST00000336775.5_Missense_Mutation_p.R226I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	226					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GCATAAAAATCTGCAGTTATC	0.313																																							uc003pqw.2		NA																	0					0						c.(676-678)AGA>ATA		blood vessel epicardial substance isoform 5							59.0	56.0	57.0					6																	105564715		2203	4295	6498	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105564715C>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.677G>T	6.37:g.105564715C>A	ENSP00000313172:p.Arg226Ile					BVES_uc003pqx.2_Missense_Mutation_p.R226I|BVES_uc003pqy.2_Missense_Mutation_p.R226I	p.R226I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			6	834	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	226			Cytoplasmic (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.677G>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540254	0.45176	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.33865	1.39;1.39;1.39	5.77	1.71	0.24356	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.284664	0.45361	D	0.000378	T	0.15912	0.0383	M	0.64404	1.975	0.53688	D	0.999978	B	0.15473	0.013	B	0.12156	0.007	T	0.05954	-1.0854	10	0.66056	D	0.02	-35.2435	5.167	0.15090	0.1328:0.4249:0.0:0.4423	.	226	Q8NE79	POPD1_HUMAN	I	226	ENSP00000313172:R226I;ENSP00000337259:R226I;ENSP00000397310:R226I	ENSP00000313172:R226I	R	-	2	0	BVES	105671408	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.687000	0.37680	0.087000	0.17167	-0.145000	0.13849	AGA		0.313	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		8	39	1	0	0.000274275	0.004482	0.000331549	8	39				
BEND3	57673	broad.mit.edu	37	6	107390010	107390010	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:107390010C>T	ENST00000369042.1	-	4	2575	c.2385G>A	c.(2383-2385)gaG>gaA	p.E795E	BEND3_ENST00000429433.2_Silent_p.E795E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	795	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTGCCACACCTCCTCCATCT	0.567																																							uc003prs.2		NA																	0				ovary(3)	3						c.(2383-2385)GAG>GAA		BEN domain containing 3							75.0	72.0	73.0					6																	107390010		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107390010C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2385G>A	6.37:g.107390010C>T							p.E795E	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	3035	-			795			BEN 4.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.2385G>A	CCDS34507.1																																																																																				0.567	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		24	76	0	0	0	0.00278	0	24	76				
ZBTB24	9841	broad.mit.edu	37	6	109802996	109802996	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:109802996C>G	ENST00000230122.3	-	2	401	c.234G>C	c.(232-234)atG>atC	p.M78I		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGCCTTCCAGCATATAAATGG	0.448																																							uc003ptl.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(232-234)ATG>ATC		zinc finger and BTB domain containing 24 isoform							113.0	106.0	108.0					6																	109802996		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802996C>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.234G>C	6.37:g.109802996C>G	ENSP00000230122:p.Met78Ile					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.M78I|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.M78I	p.M78I	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	402	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	78			BTB.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.234G>C	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236152	0.58886	.	.	ENSG00000112365	ENST00000230122	T	0.66280	-0.2	5.55	5.55	0.83447	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.282690	0.42682	D	0.000666	T	0.24044	0.0582	N	0.02802	-0.49	0.45342	D	0.998334	B;B	0.30146	0.2;0.27	B;B	0.28011	0.047;0.085	T	0.26121	-1.0112	9	.	.	.	-18.5685	19.4993	0.95086	0.0:1.0:0.0:0.0	.	78;78	O43167-2;O43167	.;ZBT24_HUMAN	I	78	ENSP00000230122:M78I	.	M	-	3	0	ZBTB24	109909689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.336000	0.79245	2.598000	0.87819	0.655000	0.94253	ATG		0.448	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		11	57	0	0	0	0.001368	0	11	57				
FIG4	9896	broad.mit.edu	37	6	110112626	110112626	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:110112626C>T	ENST00000230124.3	+	20	2352	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	FIG4_ENST00000441478.2_Missense_Mutation_p.A466V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	743					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAAACGGCAGCCAGCGCCCCG	0.517																																							uc003ptt.2		NA																	0				ovary(1)	1						c.(2227-2229)GCC>GTC		Sac domain-containing inositol phosphatase 3							61.0	73.0	69.0					6																	110112626		2203	4298	6501	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110112626C>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2228C>T	6.37:g.110112626C>T	ENSP00000230124:p.Ala743Val					FIG4_uc011eau.1_Missense_Mutation_p.A466V	p.A743V	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	20	2443	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	743					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2228C>T	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294599	0.81025	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	T;T	0.52057	1.92;0.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.968	D;P	0.80764	0.994;0.476	T	0.35992	-0.9766	10	0.30078	T	0.28	-20.2339	19.9832	0.97338	0.0:1.0:0.0:0.0	.	466;743	F5H8L9;Q92562	.;FIG4_HUMAN	V	466;743;50	ENSP00000399443:A466V;ENSP00000230124:A743V	ENSP00000230124:A743V	A	+	2	0	FIG4	110219319	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	7.487000	0.81328	2.722000	0.93159	0.655000	0.94253	GCC		0.517	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		16	152	0	0	0	0.001523	0	16	152				
ZUFSP	221302	broad.mit.edu	37	6	116956996	116956996	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:116956996C>T	ENST00000368576.3	-	10	1979	c.1736G>A	c.(1735-1737)tGa>tAa	p.*579*		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	0							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CTTGATTCTTCAAGGAATCTT	0.294																																							uc003pxf.1		NA																	0				skin(1)	1						c.(1735-1737)TGA>TAA		zinc finger with UFM1-specific peptidase domain							68.0	74.0	72.0					6																	116956996		2203	4299	6502	SO:0001819	synonymous_variant	221302					intracellular	zinc ion binding	g.chr6:116956996C>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1736G>A	6.37:g.116956996C>T							p.*579*	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	10	1982	-			579					Q5TD92|Q6PJH7|Q96NV6	Silent	SNP	ENST00000368576.3	37	c.1736G>A	CCDS5110.1																																																																																				0.294	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		12	67	0	0	0	0.001855	0	12	67				
ROS1	6098	broad.mit.edu	37	6	117677813	117677813	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:117677813T>A	ENST00000368508.3	-	25	4318	c.4120A>T	c.(4120-4122)Atc>Ttc	p.I1374F	ROS1_ENST00000368507.3_Missense_Mutation_p.I1369F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1374					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTACTGTGATAACTCTCCAA	0.433			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(4120-4122)ATC>TTC		proto-oncogene c-ros-1 protein precursor							121.0	97.0	105.0					6																	117677813		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117677813T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4120A>T	6.37:g.117677813T>A	ENSP00000357494:p.Ile1374Phe					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I1374F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4319	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1374			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4120A>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329129	0.24167	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91464	-2.85;-2.85	5.18	0.282	0.15692	.	0.290510	0.29987	N	0.010699	T	0.67458	0.2895	N	0.24115	0.695	0.09310	N	1	P	0.41041	0.736	B	0.35550	0.205	T	0.63778	-0.6560	10	0.51188	T	0.08	.	8.0108	0.30353	0.0:0.3318:0.0:0.6682	.	1374	P08922	ROS1_HUMAN	F	1374;1369	ENSP00000357494:I1374F;ENSP00000357493:I1369F	ENSP00000357493:I1369F	I	-	1	0	ROS1	117784506	0.047000	0.20315	0.004000	0.12327	0.004000	0.04260	-0.041000	0.12084	0.153000	0.19213	-0.256000	0.11100	ATC		0.433	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	42	0	0	0	0.001855	0	13	42				
CLVS2	134829	broad.mit.edu	37	6	123319180	123319180	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:123319180C>G	ENST00000275162.5	+	2	1593	c.258C>G	c.(256-258)ttC>ttG	p.F86L	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	86					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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGACATGTTCAAAAGCTTTA	0.547																																							uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(256-258)TTC>TTG		retinaldehyde binding protein 1-like 2							103.0	96.0	99.0					6																	123319180		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319180C>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.258C>G	6.37:g.123319180C>G	ENSP00000275162:p.Phe86Leu						p.F86L	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1127	+			86					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.258C>G	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318680	0.60524	.	.	ENSG00000146352	ENST00000275162	T	0.79653	-1.29	5.39	3.42	0.39159	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.045934	0.85682	D	0.000000	T	0.63474	0.2514	L	0.31926	0.97	0.80722	D	1	P	0.40144	0.704	B	0.42692	0.395	T	0.70288	-0.4913	10	0.87932	D	0	-19.7656	9.6018	0.39609	0.1343:0.7465:0.0:0.1192	.	86	Q5SYC1	CLVS2_HUMAN	L	86	ENSP00000275162:F86L	ENSP00000275162:F86L	F	+	3	2	CLVS2	123360879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.579000	0.46059	1.471000	0.48121	0.585000	0.79938	TTC		0.547	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		27	84	0	0	0	0.007291	0	27	84				
ENPP1	5167	broad.mit.edu	37	6	132173372	132173372	+	Missense_Mutation	SNP	C	C	T	rs145868241	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132173372C>T	ENST00000360971.2	+	5	634	c.614C>T	c.(613-615)gCa>gTa	p.A205V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	205	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGTGCCCAGCAGGGTAAGAT	0.294																																					Colon(104;336 1535 5856 11019 33782)	Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(613-615)GCA>GTA		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						68.0	72.0	71.0					6																	132173372		2197	4298	6495	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132173372C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.614C>T	6.37:g.132173372C>T	ENSP00000354238:p.Ala205Val						p.A205V	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	5	634	+	Breast(56;0.0505)		205			Phosphodiesterase.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.614C>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459162	0.26248	.	.	ENSG00000197594	ENST00000360971	T	0.75704	-0.96	5.59	0.174	0.15040	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.774438	0.12168	N	0.493342	T	0.58666	0.2138	M	0.64676	1.99	0.37209	D	0.904705	B	0.12013	0.005	B	0.14578	0.011	T	0.54609	-0.8268	10	0.44086	T	0.13	-2.8476	16.654	0.85224	0.6821:0.3179:0.0:0.0	.	205	P22413	ENPP1_HUMAN	V	205	ENSP00000354238:A205V	ENSP00000354238:A205V	A	+	2	0	ENPP1	132215065	0.524000	0.26282	0.990000	0.47175	0.243000	0.25628	0.199000	0.17237	-0.180000	0.10637	-0.238000	0.12139	GCA		0.294	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			17	58	0	0	0	0.00499	0	17	58				
TAAR9	134860	broad.mit.edu	37	6	132860367	132860367	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132860367C>A	ENST00000434551.1	+	0	939					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTATGCTTTCTTTTACCAAT	0.318																																					Colon(10;433 445 15992 45047 47213)	Colon(10;433 445 15992 45047 47213)	uc011eci.1		NA																	0					0						c.(937-939)TTC>TTA		trace amine associated receptor 9							78.0	70.0	72.0					6																	132860367		1850	4099	5949			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860367C>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860367C>A							p.F313L	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	941	+	Breast(56;0.112)		313			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000434551.1	37	c.939C>A																																																																																					0.318	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		8	25	1	0	0.000157383	0.00308	0.000191976	8	25				
TAAR8	83551	broad.mit.edu	37	6	132873990	132873990	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132873990G>A	ENST00000275200.1	+	1	159	c.159G>A	c.(157-159)atG>atA	p.M53I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	53					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTTAGTAATGACTTCTGTTC	0.448																																							uc011ecj.1		NA																	0				ovary(1)	1						c.(157-159)ATG>ATA		trace amine associated receptor 8							193.0	196.0	195.0					6																	132873990		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873990G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.159G>A	6.37:g.132873990G>A	ENSP00000275200:p.Met53Ile						p.M53I	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	159	+	Breast(56;0.112)		53			Cytoplasmic (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.159G>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.644266	0.00792	.	.	ENSG00000146385	ENST00000275200	T	0.65916	-0.18	4.72	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.445207	0.20825	N	0.084981	T	0.08088	0.0202	N	0.01824	-0.7	0.24373	N	0.994827	B	0.02656	0.0	B	0.06405	0.002	T	0.39820	-0.9595	10	0.02654	T	1	-6.6636	2.266	0.04078	0.1632:0.2616:0.4335:0.1417	.	53	Q969N4	TAAR8_HUMAN	I	53	ENSP00000275200:M53I	ENSP00000275200:M53I	M	+	3	0	TAAR8	132915683	0.000000	0.05858	0.936000	0.37596	0.388000	0.30384	-1.017000	0.03630	1.335000	0.45486	-0.140000	0.14226	ATG		0.448	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		48	184	0	0	0	0.00361	0	48	184				
TAAR8	83551	broad.mit.edu	37	6	132874129	132874129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132874129G>T	ENST00000275200.1	+	1	298	c.298G>T	c.(298-300)Gga>Tga	p.G100*		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	100					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGGTATTTTGGAGCCAAATT	0.468																																							uc011ecj.1		NA																	0				ovary(1)	1						c.(298-300)GGA>TGA		trace amine associated receptor 8							187.0	165.0	173.0					6																	132874129		2203	4300	6503	SO:0001587	stop_gained	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874129G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.298G>T	6.37:g.132874129G>T	ENSP00000275200:p.Gly100*						p.G100*	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	298	+	Breast(56;0.112)		100			Extracellular (Potential).		Q5VUQ0	Nonsense_Mutation	SNP	ENST00000275200.1	37	c.298G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045152	0.93685	.	.	ENSG00000146385	ENST00000275200	.	.	.	4.62	4.62	0.57501	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6173	18.0033	0.89203	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000275200:G100X	G	+	1	0	TAAR8	132915822	1.000000	0.71417	0.991000	0.47740	0.843000	0.47879	3.980000	0.56895	2.546000	0.85860	0.655000	0.94253	GGA		0.468	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		18	138	1	0	5.01169e-05	0.00499	6.31398e-05	18	138				
HIVEP2	3097	broad.mit.edu	37	6	143092296	143092296	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:143092296C>G	ENST00000367604.1	-	4	4219	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1194Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E1194Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1194					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGAATTGTCTCTTGATGTGGA	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3580-3582)GAG>CAG		human immunodeficiency virus type I enhancer							183.0	186.0	185.0					6																	143092296		2022	4175	6197	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092296C>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3580G>C	6.37:g.143092296C>G	ENSP00000356576:p.Glu1194Gln						p.E1194Q	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4323	-			1194					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3580G>C	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	9.121	1.008926	0.19199	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02446	4.29;4.29;4.29	5.8	5.8	0.92144	.	0.132994	0.64402	D	0.000002	T	0.01870	0.0059	L	0.43152	1.355	0.36463	D	0.866828	P	0.39216	0.664	B	0.32289	0.143	T	0.58831	-0.7567	10	0.44086	T	0.13	-16.872	20.0609	0.97674	0.0:1.0:0.0:0.0	.	1194	P31629	ZEP2_HUMAN	Q	1194	ENSP00000356576:E1194Q;ENSP00000356575:E1194Q;ENSP00000012134:E1194Q	ENSP00000012134:E1194Q	E	-	1	0	HIVEP2	143133989	1.000000	0.71417	0.996000	0.52242	0.713000	0.41058	4.255000	0.58804	2.755000	0.94549	0.655000	0.94253	GAG		0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			22	132	0	0	0	0.00333	0	22	132				
HIVEP2	3097	broad.mit.edu	37	6	143093208	143093208	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:143093208C>G	ENST00000367604.1	-	4	3307	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E890Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E890Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	890					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTCGAATCTCAGGAACCTGG	0.547																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2668-2670)GAG>CAG		human immunodeficiency virus type I enhancer							74.0	80.0	78.0					6																	143093208		2034	4198	6232	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093208C>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2668G>C	6.37:g.143093208C>G	ENSP00000356576:p.Glu890Gln						p.E890Q	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3411	-			890					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2668G>C	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700341	0.88924	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.50277	0.75;0.75;0.75	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74321	-0.3703	10	0.87932	D	0	-9.918	19.8536	0.96748	0.0:1.0:0.0:0.0	.	890	P31629	ZEP2_HUMAN	Q	890	ENSP00000356576:E890Q;ENSP00000356575:E890Q;ENSP00000012134:E890Q	ENSP00000012134:E890Q	E	-	1	0	HIVEP2	143134901	1.000000	0.71417	0.935000	0.37517	0.904000	0.53231	7.818000	0.86416	2.708000	0.92522	0.591000	0.81541	GAG		0.547	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			8	56	0	0	0	0.006214	0	8	56				
GRM1	2911	broad.mit.edu	37	6	146719922	146719922	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:146719922G>C	ENST00000282753.1	+	7	1982	c.1747G>C	c.(1747-1749)Gtg>Ctg	p.V583L	GRM1_ENST00000507907.1_Missense_Mutation_p.V583L|GRM1_ENST00000492807.2_Missense_Mutation_p.V583L|GRM1_ENST00000392299.2_Missense_Mutation_p.V583L|GRM1_ENST00000361719.2_Missense_Mutation_p.V583L|GRM1_ENST00000355289.4_Missense_Mutation_p.V583L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	583					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCCCATTCCTGTGCGCTATCT	0.428																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1747-1749)GTG>CTG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						207.0	190.0	196.0					6																	146719922		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146719922G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1747G>C	6.37:g.146719922G>C	ENSP00000282753:p.Val583Leu					GRM1_uc010khv.1_Missense_Mutation_p.V583L|GRM1_uc003qll.2_Missense_Mutation_p.V583L|GRM1_uc011edz.1_Missense_Mutation_p.V583L|GRM1_uc011eea.1_Missense_Mutation_p.V583L	p.V583L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2217	+		Ovarian(120;0.0387)	583			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1747G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488206	0.26686	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88431	-2.35;-2.38;-2.38;-2.35;-2.38;-2.38	5.81	4.01	0.46588	.	0.175894	0.49916	D	0.000135	T	0.70254	0.3203	N	0.19112	0.55	0.41644	D	0.98909	B;B;B	0.16166	0.009;0.007;0.016	B;B;B	0.15052	0.012;0.004;0.012	T	0.64407	-0.6415	10	0.36615	T	0.2	.	12.9878	0.58602	0.1332:0.0:0.8668:0.0	.	583;583;583	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	583	ENSP00000354896:V583L;ENSP00000376119:V583L;ENSP00000424095:V583L;ENSP00000282753:V583L;ENSP00000347437:V583L;ENSP00000425599:V583L	ENSP00000282753:V583L	V	+	1	0	GRM1	146761615	0.998000	0.40836	0.981000	0.43875	0.938000	0.57974	2.895000	0.48648	0.787000	0.33731	0.585000	0.79938	GTG		0.428	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		43	192	0	0	0	0.003214	0	43	192				
AKAP12	9590	broad.mit.edu	37	6	151673998	151673998	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:151673998C>T	ENST00000253332.1	+	3	4661	c.4472C>T	c.(4471-4473)aCt>aTt	p.T1491I	AKAP12_ENST00000402676.2_Missense_Mutation_p.T1491I|AKAP12_ENST00000354675.6_Missense_Mutation_p.T1393I|AKAP12_ENST00000359755.5_Missense_Mutation_p.T1386I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1491					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTATCTGCTACTACCAAGAAA	0.498																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(4471-4473)ACT>ATT		A kinase (PRKA) anchor protein 12 isoform 1							80.0	81.0	81.0					6																	151673998		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673998C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4472C>T	6.37:g.151673998C>T	ENSP00000253332:p.Thr1491Ile					AKAP12_uc003qoe.2_Missense_Mutation_p.T1491I|AKAP12_uc003qof.2_Missense_Mutation_p.T1393I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T1386I	p.T1491I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	4712	+		Ovarian(120;0.125)	1491					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.4472C>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193214	0.22037	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07216	3.21;3.21;3.22;3.22	4.76	-2.68	0.06041	.	1.426400	0.04981	N	0.465574	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27625	0.178;0.178;0.183	B;B;B	0.28139	0.086;0.086;0.039	T	0.46289	-0.9202	10	0.39692	T	0.17	.	1.0634	0.01605	0.2937:0.2369:0.2921:0.1772	.	1386;1393;1491	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1491;1491;1393;1386	ENSP00000384537:T1491I;ENSP00000253332:T1491I;ENSP00000346702:T1393I;ENSP00000352794:T1386I	ENSP00000253332:T1491I	T	+	2	0	AKAP12	151715691	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.485000	0.06520	-0.363000	0.08101	-0.156000	0.13503	ACT		0.498	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			10	67	0	0	0	0.008291	0	10	67				
CCDC170	80129	broad.mit.edu	37	6	151936691	151936691	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:151936691G>A	ENST00000239374.7	+	10	1923	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	CCDC170_ENST00000367290.5_Silent_p.L615L|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	608																	AGTCAGAACTGGATACCACAG	0.398																																							uc003qol.2		NA																	0					0						c.(1822-1824)CTG>CTA		hypothetical protein LOC80129							150.0	145.0	146.0					6																	151936691		1861	4106	5967	SO:0001819	synonymous_variant	80129							g.chr6:151936691G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1824G>A	6.37:g.151936691G>A							p.L608L	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	10	1913	+		Ovarian(120;0.126)	608			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1824G>A	CCDS43515.1																																																																																				0.398	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		36	93	0	0	0	0.005524	0	36	93				
SYNE1	23345	broad.mit.edu	37	6	152754989	152754989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:152754989C>A	ENST00000367255.5	-	34	5003	c.4402G>T	c.(4402-4404)Gaa>Taa	p.E1468*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1538*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1475*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E1468*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1468*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1475*|SYNE1_ENST00000367248.3_3'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1468					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)		GCATTGAGTTCTTTTTCTTTC	0.373										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.(4402-4404)GAA>TAA		spectrin repeat containing, nuclear envelope 1							149.0	140.0	143.0					6																	152754989		2203	4300	6503	SO:0001587	stop_gained	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.chr6:152754989C>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.4402G>T	6.37:g.152754989C>A	ENSP00000356224:p.Glu1468*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.E1475*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E1468*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E1451*|SYNE1_uc003qow.2_Nonsense_Mutation_p.E763*	p.E1468*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	34	5004	-		Ovarian(120;0.0955)	1468			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.4402G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	46	12.231845	0.99648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	20.1099	0.97909	0.0:1.0:0.0:0.0	.	.	.	.	X	1468;1475;1468;1475;1538;1468	.	ENSP00000265368:E1468X	E	-	1	0	SYNE1	152796682	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	4.118000	0.57884	2.753000	0.94483	0.585000	0.79938	GAA		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	50	1	0	4.3838e-07	0.001855	6.19079e-07	13	50				
MYCT1	80177	broad.mit.edu	37	6	153042943	153042943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:153042943C>A	ENST00000367245.5	+	2	271	c.263C>A	c.(262-264)gCt>gAt	p.A88D	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	88						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTTATTTGGGCTGTGTTCATT	0.448																																							uc003qpd.3		NA																	0				ovary(1)	1						c.(262-264)GCT>GAT		myc target 1							161.0	145.0	151.0					6																	153042943		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153042943C>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.263C>A	6.37:g.153042943C>A	ENSP00000356214:p.Ala88Asp					MYCT1_uc010kjc.1_Missense_Mutation_p.A88D|MYCT1_uc003qpc.3_Missense_Mutation_p.A88D	p.A88D	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	271	+		Ovarian(120;0.0654)	88					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.263C>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077731|4.077731	0.76528|0.76528	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.32753|.	1.44|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.109566|.	0.64402|.	D|.	0.000005|.	T|T	0.68888|0.68888	0.3050|0.3050	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.69142|.	0.962;0.962|.	T|T	0.64905|0.64905	-0.6297|-0.6297	10|5	0.66056|.	D|.	0.02|.	-18.5815|-18.5815	19.99|19.99	0.97362|0.97362	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	40;88|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	D|M	88|69	ENSP00000356214:A88D|.	ENSP00000356214:A88D|.	A|L	+|+	2|1	0|2	MYCT1|MYCT1	153084636|153084636	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.666000|0.666000	0.39218|0.39218	4.781000|4.781000	0.62389|0.62389	2.723000|2.723000	0.93209|0.93209	0.573000|0.573000	0.79308|0.79308	GCT|CTG		0.448	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		22	84	1	0	1.37878e-21	0.00333	2.68363e-21	22	84				
OPRM1	4988	broad.mit.edu	37	6	154412483	154412483	+	Missense_Mutation	SNP	G	G	C	rs77013544		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:154412483G>C	ENST00000330432.7	+	3	1277	c.1040G>C	c.(1039-1041)cGa>cCa	p.R347P	OPRM1_ENST00000419506.2_Missense_Mutation_p.R347P|OPRM1_ENST00000337049.4_Missense_Mutation_p.R347P|OPRM1_ENST00000229768.5_Missense_Mutation_p.R347P|OPRM1_ENST00000452687.2_Missense_Mutation_p.R347P|OPRM1_ENST00000435918.2_Missense_Mutation_p.R347P|OPRM1_ENST00000524163.1_Missense_Mutation_p.R347P|OPRM1_ENST00000428397.2_Missense_Mutation_p.R347P|OPRM1_ENST00000414028.2_Missense_Mutation_p.R347P|OPRM1_ENST00000518759.1_Missense_Mutation_p.R266P|OPRM1_ENST00000520708.1_Missense_Mutation_p.R247P|OPRM1_ENST00000434900.2_Missense_Mutation_p.R440P|OPRM1_ENST00000522555.1_Missense_Mutation_p.R247P|OPRM1_ENST00000522236.1_Missense_Mutation_p.R247P|OPRM1_ENST00000360422.4_Missense_Mutation_p.R347P	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	347					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R347Q(2)|p.R440Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACTTCAAACGATGCTTCAGA	0.463																																							uc003qpr.2		NA																	3	Substitution - Missense(3)		skin(3)	ovary(1)	1						c.(1039-1041)CGA>CCA		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						101.0	98.0	99.0					6																	154412483		1955	4142	6097	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412483G>C	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1040G>C	6.37:g.154412483G>C	ENSP00000328264:p.Arg347Pro					OPRM1_uc011efc.1_Missense_Mutation_p.R266P|OPRM1_uc011efd.1_Missense_Mutation_p.R247P|OPRM1_uc011efe.1_Missense_Mutation_p.R440P|OPRM1_uc003qpn.2_Missense_Mutation_p.R347P|OPRM1_uc003qpo.1_Missense_Mutation_p.R347P|OPRM1_uc011eff.1_Missense_Mutation_p.R347P|OPRM1_uc011efg.1_Missense_Mutation_p.R347P|OPRM1_uc011efh.1_Missense_Mutation_p.R347P|OPRM1_uc003qpq.1_Missense_Mutation_p.R347P|OPRM1_uc003qpt.1_Missense_Mutation_p.R347P|OPRM1_uc011efi.1_Missense_Mutation_p.R347P|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R247P|OPRM1_uc003qpu.2_Missense_Mutation_p.R247P	p.R347P	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1277	+		Ovarian(120;0.196)	347			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1040G>C	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656666	0.88154	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.72479	2.2	0.58432	D	0.999999	D;D;D;D;D;P;P;D;D;D;D;P	0.71674	0.965;0.993;0.982;0.983;0.994;0.943;0.763;0.993;0.988;0.991;0.998;0.953	P;D;D;P;D;P;P;D;D;D;D;D	0.74674	0.701;0.963;0.963;0.889;0.976;0.853;0.678;0.977;0.92;0.924;0.984;0.924	T	0.61549	-0.7040	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	347;347;347;347;440;266;247;347;347;347;347;347	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	P	440;247;266;347;347;347;347;347;347;347;347;347;347;247;247	ENSP00000394624:R440P;ENSP00000430876:R247P;ENSP00000430260:R266P;ENSP00000328264:R347P;ENSP00000353598:R347P;ENSP00000411903:R347P;ENSP00000410497:R347P;ENSP00000229768:R347P;ENSP00000403549:R347P;ENSP00000430097:R347P;ENSP00000399359:R347P;ENSP00000413752:R347P;ENSP00000338381:R347P;ENSP00000429719:R247P;ENSP00000429373:R247P	ENSP00000229768:R347P	R	+	2	0	OPRM1	154454176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGA		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		5	80	0	0	0	0.000602	0	5	80				
TAGAP	117289	broad.mit.edu	37	6	159457615	159457615	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:159457615G>A	ENST00000367066.3	-	10	1771	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P302P	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	480					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATTTCTTTTGGGACTGGAAG	0.537																																							uc003qrz.2		NA																	0				ovary(1)	1						c.(1438-1440)CCC>CCT		T-cell activation Rho GTPase-activating protein							93.0	112.0	105.0					6																	159457615		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457615G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1440C>T	6.37:g.159457615G>A						TAGAP_uc011eft.1_Silent_p.P417P|TAGAP_uc003qsa.2_Silent_p.P302P	p.P480P	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1772	-		Breast(66;0.000776)|Ovarian(120;0.0303)	480					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1440C>T	CCDS5261.1																																																																																				0.537	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		32	172	0	0	0	0.002836	0	32	172				
SLC22A2	6582	broad.mit.edu	37	6	160666574	160666574	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:160666574G>A	ENST00000366953.3	-	6	1219	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.L300L	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	321					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TCAAGTCTCAGGCGCTAAGAA	0.403																																							uc003qtf.2		NA																	0				breast(1)|skin(1)	2						c.(961-963)CTG>TTG		solute carrier family 22 member 2							66.0	62.0	63.0					6																	160666574		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160666574G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.961C>T	6.37:g.160666574G>A						SLC22A2_uc003qte.1_Silent_p.L321L	p.L321L	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	6	1131	-		Breast(66;0.000776)|Ovarian(120;0.0303)	321			Cytoplasmic (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.961C>T	CCDS5276.1																																																																																				0.403	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		6	24	0	0	0	0.001984	0	6	24				
PLG	5340	broad.mit.edu	37	6	161160109	161160109	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:161160109G>C	ENST00000308192.9	+	16	1950	c.1887G>C	c.(1885-1887)agG>agC	p.R629S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	629	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGTCCCCAAGGCCTTCATCCT	0.507																																							uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1885-1887)AGG>AGC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						165.0	154.0	158.0					6																	161160109		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160109G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1887G>C	6.37:g.161160109G>C	ENSP00000308938:p.Arg629Ser						p.R629S	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	1950	+			629			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1887G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	5.527	0.282202	0.10458	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	T	0.81078	-1.45	5.23	-0.147	0.13428	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.362712	0.18844	U	0.129593	T	0.29817	0.0745	N	0.02391	-0.57	0.31126	N	0.708279	B	0.32302	0.363	B	0.37943	0.261	T	0.27606	-1.0069	10	0.12766	T	0.61	.	3.7632	0.08611	0.0763:0.2644:0.3871:0.2722	.	629	P00747	PLMN_HUMAN	S	629;29	ENSP00000308938:R629S	ENSP00000308938:R629S	R	+	3	2	PLG	161080099	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.076000	0.03420	-0.366000	0.08064	-0.181000	0.13052	AGG		0.507	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		24	89	0	0	0	0.003954	0	24	89				
PLG	5340	broad.mit.edu	37	6	161160215	161160215	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:161160215G>T	ENST00000308192.9	+	16	2056	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	665	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D665H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACACGAAAAGATATTGCCTT	0.478																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		breast(1)	skin(3)|ovary(1)	4						c.(1993-1995)GAT>TAT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						141.0	129.0	133.0					6																	161160215		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160215G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1993G>T	6.37:g.161160215G>T	ENSP00000308938:p.Asp665Tyr						p.D665Y	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	2056	+			665			Peptidase S1.	Charge relay system.	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1993G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	19.00	3.741041	0.69304	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.97620	-4.46	5.23	5.23	0.72850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41194	U	0.000940	D	0.99315	0.9760	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98391	1.0563	10	0.87932	D	0	.	16.58	0.84712	0.0:0.0:1.0:0.0	.	665	P00747	PLMN_HUMAN	Y	665;65	ENSP00000308938:D665Y	ENSP00000308938:D665Y	D	+	1	0	PLG	161080205	1.000000	0.71417	0.052000	0.19188	0.011000	0.07611	7.416000	0.80143	2.439000	0.82584	0.655000	0.94253	GAT		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		21	78	1	0	2.52088e-20	0.00278	4.85034e-20	21	78				
THBS2	7058	broad.mit.edu	37	6	169648580	169648580	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:169648580C>T	ENST00000366787.3	-	4	790	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	181	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTGCTCGTAGAAGGGC	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(541-543)GAG>AAG		thrombospondin 2 precursor							81.0	81.0	81.0					6																	169648580		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648580C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.541G>A	6.37:g.169648580C>T	ENSP00000355751:p.Glu181Lys						p.E181K	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	789	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	181			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.541G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229226	0.79688	.	.	ENSG00000186340	ENST00000366787	T	0.02140	4.43	4.5	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41500	U	0.000880	T	0.03348	0.0097	L	0.45698	1.435	0.44234	D	0.997073	D	0.89917	1.0	D	0.80764	0.994	T	0.50381	-0.8835	10	0.06236	T	0.91	-50.9177	17.5714	0.87935	0.0:1.0:0.0:0.0	.	181	P35442	TSP2_HUMAN	K	181	ENSP00000355751:E181K	ENSP00000355751:E181K	E	-	1	0	THBS2	169390505	1.000000	0.71417	0.996000	0.52242	0.813000	0.45954	5.518000	0.67068	2.204000	0.70986	0.563000	0.77884	GAG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		17	58	0	0	0	0.006122	0	17	58				
SDK1	221935	broad.mit.edu	37	7	4089047	4089047	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:4089047G>C	ENST00000404826.2	+	18	2809	c.2670G>C	c.(2668-2670)tgG>tgC	p.W890C	SDK1_ENST00000389531.3_Missense_Mutation_p.W890C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	890	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W890*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTTCCTGTGGAACCCTCCGC	0.592																																							uc003smx.2		NA																	1	Substitution - Nonsense(1)		skin(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(2668-2670)TGG>TGC		sidekick 1 precursor							94.0	80.0	85.0					7																	4089047		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4089047G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2670G>C	7.37:g.4089047G>C	ENSP00000385899:p.Trp890Cys					SDK1_uc010kso.2_Missense_Mutation_p.W166C	p.W890C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2809	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	890			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2670G>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963427	0.53507	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.84223	-1.82;-1.82	5.13	5.13	0.70059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.95329	0.8484	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.96983	0.9716	10	0.87932	D	0	.	18.6093	0.91277	0.0:0.0:1.0:0.0	.	890;890	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	C	890	ENSP00000385899:W890C;ENSP00000374182:W890C	ENSP00000374182:W890C	W	+	3	0	SDK1	4055573	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.742000	0.98846	2.392000	0.81423	0.557000	0.71058	TGG		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	33	0	0	0	0.008291	0	9	33				
SLC29A4	222962	broad.mit.edu	37	7	5327577	5327577	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:5327577G>A	ENST00000396872.3	+	2	291	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.G44S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.G44S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	44					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCAGGGCCAGGGCCTTAGGGC	0.667																																							uc003sod.2		NA																	0				liver(1)	1						c.(130-132)GGC>AGC		solute carrier family 29 (nucleoside							22.0	24.0	23.0					7																	5327577		2203	4296	6499	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5327577G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.130G>A	7.37:g.5327577G>A	ENSP00000380081:p.Gly44Ser					SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.G44S|SLC29A4_uc003soe.2_Missense_Mutation_p.G44S	p.G44S	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	291	+		Ovarian(82;0.0175)	44			Extracellular (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.130G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189130	0.38707	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.03	4.03	0.46877	.	1.169410	0.06396	N	0.717915	T	0.40347	0.1113	M	0.70595	2.14	0.09310	N	0.999999	B;B	0.17667	0.023;0.016	B;B	0.17433	0.018;0.007	T	0.52215	-0.8605	10	0.02654	T	1	-10.2171	9.2616	0.37616	0.103:0.0:0.897:0.0	.	44;44	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	44	ENSP00000406803:G44S;ENSP00000380081:G44S;ENSP00000413271:G44S;ENSP00000297195:G44S;ENSP00000385845:G44S	ENSP00000297195:G44S	G	+	1	0	SLC29A4	5294103	1.000000	0.71417	0.006000	0.13384	0.030000	0.12068	2.565000	0.45939	1.799000	0.52666	0.484000	0.47621	GGC		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		6	30	0	0	0	0.00308	0	6	30				
ACTB	60	broad.mit.edu	37	7	5567507	5567507	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:5567507C>T	ENST00000331789.5	-	6	1191	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	334					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACTTGCGCTCAGGAGGAGCA	0.627																																							uc003sos.3		NA																	0					0						c.(1000-1002)GAG>AAG		beta actin							85.0	84.0	84.0					7																	5567507		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567507C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1000G>A	7.37:g.5567507C>T	ENSP00000349960:p.Glu334Lys					ACTB_uc003sor.3_Missense_Mutation_p.E212K|ACTB_uc003sot.3_Missense_Mutation_p.E334K|ACTB_uc003soq.3_Missense_Mutation_p.E212K|ACTB_uc010ksy.2_Missense_Mutation_p.E212K	p.E334K	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1036	-		Ovarian(82;0.0606)	334					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1000G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122862	0.37436	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95412	-3.7	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	D	0.96411	0.8829	M	0.88704	2.975	0.58432	D	0.999996	B	0.09022	0.002	B	0.27608	0.081	D	0.94433	0.7651	10	0.87932	D	0	.	18.5519	0.91068	0.0:1.0:0.0:0.0	.	334	P60709	ACTB_HUMAN	K	334;310;306;253	ENSP00000349960:E334K	ENSP00000440549:E253K	E	-	1	0	ACTB	5534033	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	7.533000	0.81994	2.617000	0.88574	0.650000	0.86243	GAG		0.627	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		10	81	0	0	0	0.008291	0	10	81				
PHF14	9678	broad.mit.edu	37	7	11068443	11068443	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:11068443G>C	ENST00000403050.3	+	7	1905	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	PHF14_ENST00000445996.2_Missense_Mutation_p.E200Q	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	485					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGCGGCGGAAGAGGTAGGTTT	0.398																																							uc003sry.1		NA																	0				kidney(2)|skin(1)	3						c.(1453-1455)GAG>CAG		PHD finger protein 14 isoform 2							96.0	93.0	94.0					7																	11068443		1935	4135	6070	SO:0001583	missense	9678						zinc ion binding	g.chr7:11068443G>C	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1453G>C	7.37:g.11068443G>C	ENSP00000385795:p.Glu485Gln					PHF14_uc011jxi.1_Missense_Mutation_p.E200Q|PHF14_uc003srz.2_Missense_Mutation_p.E485Q|PHF14_uc011jxj.1_Missense_Mutation_p.E200Q	p.E485Q	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	7	1888	+			485					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1453G>C	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182353	0.78677	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.14640	2.49;2.49	5.31	5.31	0.75309	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.69078	0.989;0.991;0.997;0.808	D;D;D;B	0.81914	0.979;0.982;0.995;0.413	T	0.01169	-1.1430	10	0.56958	D	0.05	.	19.3605	0.94436	0.0:0.0:1.0:0.0	.	200;200;485;485	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	Q	485;200	ENSP00000385795:E485Q;ENSP00000403907:E200Q	ENSP00000385795:E485Q	E	+	1	0	PHF14	11034968	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	9.752000	0.98900	2.630000	0.89119	0.650000	0.86243	GAG		0.398	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		4	54	0	0	0	0.001168	0	4	54				
BZW2	28969	broad.mit.edu	37	7	16714111	16714111	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:16714111C>T	ENST00000433922.2	+	3	311	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.L45F|BZW2_ENST00000452975.2_Missense_Mutation_p.L45F|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	45					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGGTGATGACCTTGAAGCTGT	0.423																																							uc003stl.2		NA																	0				ovary(2)	2						c.(133-135)CTT>TTT		basic leucine zipper and W2 domains 2							127.0	119.0	122.0					7																	16714111		2203	4300	6503	SO:0001583	missense	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16714111C>T	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.133C>T	7.37:g.16714111C>T	ENSP00000397249:p.Leu45Phe					BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Missense_Mutation_p.L45F|BZW2_uc003stk.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.L45F|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Missense_Mutation_p.L45F	p.L45F	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	3	311	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		45					A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.133C>T	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123679	0.56613	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.41710	1.295	0.52501	D	0.999954	D;D;D	0.67145	0.971;0.996;0.971	B;D;B	0.63877	0.441;0.919;0.441	T	0.55392	-0.8148	10	0.37606	T	0.19	-15.9367	11.0431	0.47842	0.0:0.8633:0.0:0.1367	.	45;45;45	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	F	45	ENSP00000403481:L45F;ENSP00000258761:L45F;ENSP00000397249:L45F;ENSP00000411715:L45F;ENSP00000412750:L45F;ENSP00000415924:L45F;ENSP00000416531:L45F	ENSP00000258761:L45F	L	+	1	0	BZW2	16680636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.092000	0.41700	2.937000	0.99478	0.650000	0.86243	CTT		0.423	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		22	85	0	0	0	0.00278	0	22	85				
ITGB8	3696	broad.mit.edu	37	7	20441723	20441723	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:20441723C>T	ENST00000222573.4	+	10	2345	c.1661C>T	c.(1660-1662)cCa>cTa	p.P554L	ITGB8_ENST00000537992.1_Missense_Mutation_p.P419L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	554	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTTTCTTGTCCATATCACCAT	0.358																																							uc003suu.2		NA																	0				skin(3)	3						c.(1660-1662)CCA>CTA		integrin, beta 8 precursor							94.0	98.0	96.0					7																	20441723		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441723C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1661C>T	7.37:g.20441723C>T	ENSP00000222573:p.Pro554Leu					ITGB8_uc011jyh.1_Missense_Mutation_p.P419L	p.P554L	NM_002214	NP_002205	P26012	ITB8_HUMAN			10	2366	+			554			III.|Cysteine-rich tandem repeats.|Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1661C>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671034	0.67814	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92397	-3.03;-3.03	6.06	6.06	0.98353	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93631	0.6956	10	0.40728	T	0.16	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	554	P26012	ITB8_HUMAN	L	419;554	ENSP00000441561:P419L;ENSP00000222573:P554L	ENSP00000222573:P554L	P	+	2	0	ITGB8	20408248	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	4.989000	0.63870	2.871000	0.98454	0.655000	0.94253	CCA		0.358	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		8	74	0	0	0	0.006214	0	8	74				
DNAH11	8701	broad.mit.edu	37	7	21723472	21723472	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:21723472G>A	ENST00000409508.3	+	32	5562	c.5531G>A	c.(5530-5532)tGc>tAc	p.C1844Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.C1851Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1851	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACACTGCTTTGTTAAT	0.438									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5551-5553)TGC>TAC		dynein, axonemal, heavy chain 11							273.0	252.0	258.0					7																	21723472		1905	4120	6025	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723472G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5531G>A	7.37:g.21723472G>A	ENSP00000475939:p.Cys1844Tyr						p.C1851Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5583	+			1851			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5552G>A		.	.	.	.	.	.	.	.	.	.	G	24.3	4.514294	0.85389	.	.	ENSG00000105877	ENST00000328843	T	0.28069	1.63	5.93	5.04	0.67666	.	0.782583	0.12695	N	0.446886	T	0.57080	0.2029	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55309	-0.8161	9	0.87932	D	0	.	14.2233	0.65843	0.0719:0.0:0.9281:0.0	.	1851	Q96DT5	DYH11_HUMAN	Y	1851	ENSP00000330671:C1851Y	ENSP00000330671:C1851Y	C	+	2	0	DNAH11	21689997	1.000000	0.71417	0.976000	0.42696	0.965000	0.64279	6.728000	0.74769	2.814000	0.96858	0.563000	0.77884	TGC		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		18	152	0	0	0	0.001216	0	18	152				
GPNMB	10457	broad.mit.edu	37	7	23313811	23313811	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:23313811C>A	ENST00000381990.2	+	11	1848	c.1687C>A	c.(1687-1689)Ctc>Atc	p.L563I	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000258733.4_Missense_Mutation_p.L551I|GPNMB_ENST00000453162.2_Missense_Mutation_p.L505I|GPNMB_ENST00000539136.1_Missense_Mutation_p.L452I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	563					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GGATCCGCTACTCAAAAACCA	0.438																																							uc003swc.2		NA																	0				ovary(3)|breast(2)	5						c.(1687-1689)CTC>ATC		glycoprotein (transmembrane) nmb isoform a							80.0	82.0	81.0					7																	23313811		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23313811C>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1687C>A	7.37:g.23313811C>A	ENSP00000371420:p.Leu563Ile					GPNMB_uc003swb.2_Missense_Mutation_p.L551I|GPNMB_uc011jyy.1_Missense_Mutation_p.L505I|GPNMB_uc011jyz.1_Missense_Mutation_p.L452I	p.L563I	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		11	1848	+			563			Cytoplasmic (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1687C>A	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976626	0.74360	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.28895	1.67;1.62;1.69;1.59	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000035	T	0.57577	0.2063	M	0.65498	2.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.996;0.999;0.994;0.99	T	0.56329	-0.7997	10	0.72032	D	0.01	-23.5879	19.9388	0.97151	0.0:1.0:0.0:0.0	.	452;505;563;551	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	I	551;598;563;446;452;505	ENSP00000258733:L551I;ENSP00000371420:L563I;ENSP00000445266:L452I;ENSP00000405586:L505I	ENSP00000258733:L551I	L	+	1	0	GPNMB	23280336	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	3.469000	0.53093	2.815000	0.96918	0.561000	0.74099	CTC		0.438	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		10	82	1	0	2.17888e-05	0.006214	2.81911e-05	10	82				
STK31	56164	broad.mit.edu	37	7	23808719	23808719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:23808719G>T	ENST00000355870.3	+	12	1641	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	STK31_ENST00000433467.2_Nonsense_Mutation_p.E508*|STK31_ENST00000428484.1_Nonsense_Mutation_p.E485*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.E485*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	508						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAAAGAGAGGAGTTCACCAG	0.408																																							uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1522-1524)GAG>TAG		serine/threonine kinase 31 isoform a							96.0	99.0	98.0					7																	23808719		2203	4299	6502	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23808719G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1522G>T	7.37:g.23808719G>T	ENSP00000348132:p.Glu508*					STK31_uc003swt.3_Nonsense_Mutation_p.E485*|STK31_uc011jze.1_Nonsense_Mutation_p.E508*|STK31_uc010kuq.2_Nonsense_Mutation_p.E485*	p.E508*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			12	1589	+			508					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.1522G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	40	8.148283	0.98678	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.3	4.42	0.53409	.	0.180330	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.8816	9.9993	0.41918	0.0:0.1501:0.6942:0.1557	.	.	.	.	X	508;508;485;485	.	ENSP00000346660:E485X	E	+	1	0	STK31	23775244	1.000000	0.71417	0.978000	0.43139	0.818000	0.46254	2.381000	0.44336	1.216000	0.43427	0.655000	0.94253	GAG		0.408	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		33	58	1	0	1.71298e-08	0.003755	2.5733e-08	33	58				
HOXA5	3202	broad.mit.edu	37	7	27182767	27182767	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:27182767G>T	ENST00000222726.3	-	1	520	c.460C>A	c.(460-462)Cct>Act	p.P154T	HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000520854.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	154					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|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)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTGCTGGCAGGGGCGTCCTCC	0.706																																					Colon(119;75 2200 7557 42868)	Colon(119;75 2200 7557 42868)	uc003syn.1		NA																	0					0						c.(460-462)CCT>ACT		homeobox A5							43.0	55.0	51.0					7																	27182767		2198	4287	6485	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182767G>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.460C>A	7.37:g.27182767G>T	ENSP00000222726:p.Pro154Thr						p.P154T	NM_019102	NP_061975	P20719	HXA5_HUMAN			1	521	-			154					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.460C>A	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166328	0.38217	.	.	ENSG00000106004	ENST00000222726	D	0.92858	-3.12	5.53	5.53	0.82687	.	0.053639	0.85682	D	0.000000	D	0.90484	0.7019	L	0.61387	1.9	0.58432	D	0.999991	B	0.30068	0.267	B	0.25291	0.059	D	0.87826	0.2641	10	0.28530	T	0.3	.	19.0602	0.93090	0.0:0.0:1.0:0.0	.	154	P20719	HXA5_HUMAN	T	154	ENSP00000222726:P154T	ENSP00000222726:P154T	P	-	1	0	HOXA5	27149292	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.334000	0.59291	2.596000	0.87737	0.591000	0.81541	CCT		0.706	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			13	65	1	0	1.5842e-08	0.001855	2.38251e-08	13	65				
CHN2	1124	broad.mit.edu	37	7	29535575	29535575	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29535575C>A	ENST00000222792.6	+	8	1192	c.662C>A	c.(661-663)aCg>aAg	p.T221K	CHN2_ENST00000495789.2_Missense_Mutation_p.T234K|CHN2_ENST00000539406.1_Missense_Mutation_p.T296K|CHN2_ENST00000424025.2_Missense_Mutation_p.T40K|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.T206K|CHN2_ENST00000409041.4_Missense_Mutation_p.T85K|CHN2_ENST00000439711.2_Missense_Mutation_p.T85K|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000421775.2_Missense_Mutation_p.T85K|CHN2_ENST00000539389.1_Missense_Mutation_p.T77K	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAGGTCCACACGTTCCGAGGC	0.483																																					Ovarian(1;44 48 13232 18918 31480)	Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NA																	0				ovary(2)	2						c.(661-663)ACG>AAG		beta chimerin isoform 2							73.0	70.0	71.0					7																	29535575		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29535575C>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.662C>A	7.37:g.29535575C>A	ENSP00000222792:p.Thr221Lys					CHN2_uc011jzs.1_Missense_Mutation_p.T296K|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.T186K|CHN2_uc011jzt.1_Missense_Mutation_p.T234K|CHN2_uc010kvd.2_Missense_Mutation_p.T77K|CHN2_uc011jzu.1_Missense_Mutation_p.T206K|CHN2_uc010kvg.2_Missense_Mutation_p.T85K|CHN2_uc010kvh.2_Missense_Mutation_p.T85K|CHN2_uc010kvi.2_Missense_Mutation_p.T85K|CHN2_uc010kve.2_Missense_Mutation_p.T85K|CHN2_uc003taa.2_Missense_Mutation_p.T85K|CHN2_uc010kvf.2_Missense_Mutation_p.T85K|CHN2_uc010kvj.2_Missense_Mutation_p.T40K|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_Intron|CHN2_uc010kvm.2_Missense_Mutation_p.T40K|CHN2_uc011jzv.1_Missense_Mutation_p.T14K	p.T221K	NM_004067	NP_004058	P52757	CHIO_HUMAN			8	1099	+			221			Phorbol-ester/DAG-type.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.662C>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520374	0.96416	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	D;D;D;D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.84	5.84	0.93424	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;0.999;1.0;0.904;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;B;D;D;D	0.91635	0.963;0.997;0.999;0.998;0.963;0.995;0.999;0.997;0.988;0.942;0.987;0.311;0.997;0.984;0.997	D	0.97111	0.9804	10	0.54805	T	0.06	.	19.7257	0.96162	0.0:1.0:0.0:0.0	.	14;206;234;296;40;40;85;85;85;85;85;77;221;85;221	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCF6;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	K	296;221;234;77;206;46;85;40;85;85	ENSP00000444063:T296K;ENSP00000222792:T221K;ENSP00000438587:T234K;ENSP00000440526:T77K;ENSP00000442812:T206K;ENSP00000396867:T46K;ENSP00000386849:T85K;ENSP00000406337:T40K;ENSP00000387425:T85K;ENSP00000394284:T85K	ENSP00000222792:T221K	T	+	2	0	CHN2	29502100	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.818000	0.86416	2.751000	0.94390	0.655000	0.94253	ACG		0.483	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		12	21	1	0	0.00010058	0.001368	0.000124382	12	21				
SCRN1	9805	broad.mit.edu	37	7	29980355	29980355	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29980355G>C	ENST00000426154.1	-	5	858	c.682C>G	c.(682-684)Cca>Gca	p.P228A	SCRN1_ENST00000425819.2_Missense_Mutation_p.P160A|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000434476.2_Missense_Mutation_p.P248A|SCRN1_ENST00000409497.1_Missense_Mutation_p.P228A|SCRN1_ENST00000242059.5_Missense_Mutation_p.P228A	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	228					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCCTCAACTGGAGAAAAGACT	0.488																																							uc010kvp.2		NA																	0				ovary(2)	2						c.(682-684)CCA>GCA		secernin 1 isoform c							135.0	131.0	133.0					7																	29980355		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29980355G>C	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.682C>G	7.37:g.29980355G>C	ENSP00000409068:p.Pro228Ala					SCRN1_uc011jzy.1_Missense_Mutation_p.P160A|SCRN1_uc003tak.2_Missense_Mutation_p.P228A|SCRN1_uc011jzz.1_Missense_Mutation_p.P228A|SCRN1_uc011kaa.1_Missense_Mutation_p.P248A|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.P51A	p.P228A	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			4	886	-			228					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.682C>G	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939217	0.02322	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.76	4.87	0.63330	.	0.520005	0.18958	N	0.126478	T	0.18923	0.0454	L	0.41573	1.285	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.004	T	0.03344	-1.1046	9	.	.	.	-1.4004	14.005	0.64459	0.0:0.2891:0.7109:0.0	.	248;248;228	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	A	228;228;160;32;228;248;228	ENSP00000242059:P228A;ENSP00000409068:P228A;ENSP00000414245:P160A;ENSP00000386872:P228A;ENSP00000388942:P248A;ENSP00000413184:P228A	.	P	-	1	0	SCRN1	29946880	1.000000	0.71417	0.983000	0.44433	0.075000	0.17131	3.363000	0.52321	1.412000	0.46977	-0.282000	0.10007	CCA		0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		4	100	0	0	0	0.000602	0	4	100				
SCRN1	9805	broad.mit.edu	37	7	29980412	29980412	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29980412G>C	ENST00000426154.1	-	5	801	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	SCRN1_ENST00000425819.2_Missense_Mutation_p.Q141E|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000434476.2_Missense_Mutation_p.Q229E|SCRN1_ENST00000409497.1_Missense_Mutation_p.Q209E|SCRN1_ENST00000242059.5_Missense_Mutation_p.Q209E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	209					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCTTGGCTCTGAGCGTAACTC	0.527																																							uc010kvp.2		NA																	0				ovary(2)	2						c.(625-627)CAG>GAG		secernin 1 isoform c							148.0	149.0	149.0					7																	29980412		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29980412G>C	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.625C>G	7.37:g.29980412G>C	ENSP00000409068:p.Gln209Glu					SCRN1_uc011jzy.1_Missense_Mutation_p.Q141E|SCRN1_uc003tak.2_Missense_Mutation_p.Q209E|SCRN1_uc011jzz.1_Missense_Mutation_p.Q209E|SCRN1_uc011kaa.1_Missense_Mutation_p.Q229E|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.Q32E	p.Q209E	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			4	829	-			209					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.625C>G	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589336	0.28357	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	4.87	0.63330	.	0.289069	0.30575	N	0.009326	T	0.12902	0.0313	N	0.25789	0.76	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.13442	-1.0509	9	.	.	.	-19.3554	7.555	0.27819	0.0:0.1996:0.5471:0.2533	.	229;229;209	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	E	209;209;141;13;209;229;209	ENSP00000242059:Q209E;ENSP00000409068:Q209E;ENSP00000414245:Q141E;ENSP00000386872:Q209E;ENSP00000388942:Q229E;ENSP00000413184:Q209E	.	Q	-	1	0	SCRN1	29946937	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.223000	0.32527	2.721000	0.93114	0.591000	0.81541	CAG		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		3	131	0	0	0	0.000602	0	3	131				
AQP1	358	broad.mit.edu	37	7	30951831	30951831	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:30951831G>T	ENST00000311813.4	+	1	362	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	AQP1_ENST00000434909.2_Missense_Mutation_p.V163L|AQP1_ENST00000509504.1_Missense_Mutation_p.V280L	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	103					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	CGCCCAGTGCGTGGGGGCCAT	0.642																																							uc003tbv.1		NA																	0					0						c.(307-309)GTG>TTG		aquaporin 1	Acetazolamide(DB00819)						85.0	89.0	87.0					7																	30951831		2203	4300	6503	SO:0001583	missense	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30951831G>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.307G>T	7.37:g.30951831G>T	ENSP00000311165:p.Val103Leu					AQP1_uc011kac.1_Missense_Mutation_p.V163L	p.V103L	NM_198098	NP_932766	P29972	AQP1_HUMAN			1	364	+		Melanoma(862;0.16)	103			Helical; Name=Helix 3.		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.307G>T	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140084	0.06669	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000509504	D;D;D	0.91464	-2.85;-2.85;-2.85	4.46	4.46	0.54185	Aquaporin-like (2);	0.150685	0.46145	D	0.000308	T	0.66886	0.2835	N	0.00496	-1.435	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.69289	-0.5184	10	0.02654	T	1	.	10.8032	0.46502	0.0:0.192:0.808:0.0	.	163;103	B4E220;P29972	.;AQP1_HUMAN	L	163;8;103;280	ENSP00000395059:V163L;ENSP00000311165:V103L;ENSP00000421315:V280L	ENSP00000265298:V8L	V	+	1	0	RP5-877J2.1;AQP1	30918356	0.998000	0.40836	0.999000	0.59377	0.966000	0.64601	2.492000	0.45311	2.490000	0.84030	0.561000	0.74099	GTG		0.642	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		22	78	1	0	3.5997e-14	0.002299	6.3947e-14	22	78				
BBS9	27241	broad.mit.edu	37	7	33545098	33545098	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:33545098G>A	ENST00000242067.6	+	20	2660	c.2139G>A	c.(2137-2139)gtG>gtA	p.V713V	BBS9_ENST00000355070.2_Silent_p.V708V|BBS9_ENST00000350941.3_Silent_p.V673V|BBS9_ENST00000354265.4_Silent_p.V678V|BBS9_ENST00000396127.2_Silent_p.V678V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	713	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGATGCAGTGGAGGAAAACC	0.453									Bardet-Biedl syndrome																														uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2137-2139)GTG>GTA		parathyroid hormone-responsive B1 isoform 2							181.0	166.0	171.0					7																	33545098		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33545098G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2139G>A	7.37:g.33545098G>A						BBS9_uc003tdo.1_Silent_p.V678V|BBS9_uc003tdp.1_Silent_p.V708V|BBS9_uc003tdq.1_Silent_p.V673V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.V237V|BBS9_uc003tds.1_Silent_p.V136V|BBS9_uc003tdt.2_RNA	p.V713V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		20	2652	+			713					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.2139G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	4.419	0.077569	0.08485	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.29652	0.0740	.	.	.	0.36318	D	0.858077	.	.	.	.	.	.	T	0.31336	-0.9947	4	.	.	.	-1.6678	1.7325	0.02934	0.1564:0.2692:0.322:0.2524	.	.	.	.	R	280	.	.	G	+	1	0	BBS9	33511623	0.015000	0.18098	0.013000	0.15412	0.810000	0.45777	-1.177000	0.03096	-1.723000	0.01375	-0.312000	0.09012	GGA		0.453	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			21	141	0	0	0	0.001882	0	21	141				
BMPER	168667	broad.mit.edu	37	7	34118542	34118542	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:34118542G>T	ENST00000297161.2	+	13	1526	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	BMPER_ENST00000426693.1_Silent_p.G384G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	384	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTTTCAGGGGACGTGTCAGT	0.572																																							uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1150-1152)GGG>GGT		BMP-binding endothelial regulator precursor							102.0	109.0	106.0					7																	34118542		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118542G>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1152G>T	7.37:g.34118542G>T							p.G384G	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1266	+			384			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1152G>T	CCDS5442.1																																																																																				0.572	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	98	1	0	9.16793e-09	0.00499	1.38968e-08	18	98				
INHBA	3624	broad.mit.edu	37	7	41739731	41739731	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:41739731G>T	ENST00000242208.4	-	2	488	c.242C>A	c.(241-243)gCg>gAg	p.A81E	INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A81E|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	81					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGAAGCGCCGCCTTGGGTAC	0.527										TSP Lung(11;0.080)																													uc003thq.2		NA																	0				lung(5)|ovary(1)	6						c.(241-243)GCG>GAG		inhibin beta A precursor							283.0	303.0	296.0					7																	41739731		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739731G>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.242C>A	7.37:g.41739731G>T	ENSP00000242208:p.Ala81Glu	TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A81E|LOC285954_uc003ths.2_Intron	p.A81E	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	477	-			81					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.242C>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812317	0.90707	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64991	-0.13;-0.13	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.111189	0.64402	D	0.000010	T	0.78521	0.4296	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79967	-0.1580	10	0.87932	D	0	-20.2556	19.3797	0.94527	0.0:0.0:1.0:0.0	.	81	P08476	INHBA_HUMAN	E	81	ENSP00000242208:A81E;ENSP00000397197:A81E	ENSP00000242208:A81E	A	-	2	0	INHBA	41706256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.694000	0.98686	2.576000	0.86940	0.655000	0.94253	GCG		0.527	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			117	315	1	0	3.3835e-51	0.00361	6.8745e-51	117	315				
GLI3	2737	broad.mit.edu	37	7	42012087	42012087	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:42012087G>T	ENST00000395925.3	-	13	2036	c.1952C>A	c.(1951-1953)cCa>cAa	p.P651Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	651					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTCGGGGGTGGCGGCCGAGG	0.612									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1951-1953)CCA>CAA		GLI-Kruppel family member GLI3							84.0	87.0	86.0					7																	42012087		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42012087G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1952C>A	7.37:g.42012087G>T	ENSP00000379258:p.Pro651Gln					GLI3_uc011kbg.1_Missense_Mutation_p.P592Q	p.P651Q	NM_000168	NP_000159	P10071	GLI3_HUMAN			13	2043	-			651					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1952C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249893	0.80024	.	.	ENSG00000106571	ENST00000395925	T	0.15952	2.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.60455	1.87	0.80722	D	1	B	0.25390	0.125	B	0.34590	0.186	T	0.02345	-1.1173	10	0.51188	T	0.08	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	651	P10071	GLI3_HUMAN	Q	651	ENSP00000379258:P651Q	ENSP00000379258:P651Q	P	-	2	0	GLI3	41978612	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.827000	0.99397	2.804000	0.96469	0.655000	0.94253	CCA		0.612	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		15	83	1	0	3.52763e-06	0.00499	4.77101e-06	15	83				
ADCY1	107	broad.mit.edu	37	7	45688397	45688397	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:45688397G>T	ENST00000297323.7	+	5	1170		c.e5+1		ADCY1_ENST00000432715.1_Splice_Site	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATACCATCACGTAAGTACCCC	0.587																																							uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.e5+1		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						88.0	69.0	75.0					7																	45688397		2203	4300	6503	SO:0001630	splice_region_variant	107				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688397G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1148+1G>T	7.37:g.45688397G>T						ADCY1_uc003tnd.2_Splice_Site_p.T158_splice	p.T383_splice	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			5	1166	+								A4D2L8|Q75MI1	Splice_Site	SNP	ENST00000297323.7	37	c.1148_splice	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919252	0.73098	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3866	0.66949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY1	45654922	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.874000	0.92363	2.243000	0.73865	0.561000	0.74099	.		0.587	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	Intron	18	25	1	0	5.03518e-11	0.007413	8.26681e-11	18	25				
IGFBP3	3486	broad.mit.edu	37	7	45956825	45956825	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:45956825C>T	ENST00000275521.6	-	2	750	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R109Q|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R212Q	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	206	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.R206L(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TTCTGTCTCCCGCTTGGACTC	0.493											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003tns.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(616-618)CGG>CAG		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						140.0	134.0	136.0					7																	45956825		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956825C>T		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.617G>A	7.37:g.45956825C>T	ENSP00000275521:p.Arg206Gln		OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R212Q|IGFBP3_uc003tnt.2_Missense_Mutation_p.R109Q	p.R206Q	NM_000598	NP_000589	P17936	IBP3_HUMAN			2	749	-			206			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.617G>A	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.885287|1.885287	0.33255|0.33255	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.|T;T;T;T	.|0.62105	.|0.05;0.05;0.05;0.05	5.05|5.05	1.69|1.69	0.24217|0.24217	.|Thyroglobulin type-1 (1);	.|0.303544	.|0.30593	.|N	.|0.009296	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.31578|0.31578	0.945|0.945	0.31702|0.31702	N|N	0.640647|0.640647	.|B;B;B	.|0.24618	.|0.027;0.107;0.107	.|B;B;B	.|0.18263	.|0.007;0.021;0.021	T|T	0.28744|0.28744	-1.0034|-1.0034	5|10	.|0.15952	.|T	.|0.53	-31.6291|-31.6291	5.225|5.225	0.15389|0.15389	0.0:0.5342:0.0:0.4658|0.0:0.5342:0.0:0.4658	.|.	.|109;206;191	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	R|Q	58|183;206;109;192;104;212;178;96	.|ENSP00000275521:R206Q;ENSP00000370476:R109Q;ENSP00000370473:R212Q;ENSP00000389668:R96Q	.|ENSP00000275521:R206Q	G|R	-|-	1|2	0|0	IGFBP3|IGFBP3	45923350|45923350	0.990000|0.990000	0.36364|0.36364	0.998000|0.998000	0.56505|0.56505	0.704000|0.704000	0.40688|0.40688	0.713000|0.713000	0.25794|0.25794	0.493000|0.493000	0.27837|0.27837	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.493	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		12	97	0	0	0	0.001368	0	12	97				
PKD1L1	168507	broad.mit.edu	37	7	47866973	47866973	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:47866973C>T	ENST00000289672.2	-	45	6879	c.6829G>A	c.(6829-6831)Gag>Aag	p.E2277K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2277					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						GTGCGACTCTCTCTCCTCATC	0.662																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6829-6831)GAG>AAG		polycystin-1L1							86.0	72.0	77.0					7																	47866973		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47866973C>T	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.6829G>A	7.37:g.47866973C>T	ENSP00000289672:p.Glu2277Lys					C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.E4K	p.E2277K	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			45	6829	-			2277			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6829G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169090	0.38315	.	.	ENSG00000158683	ENST00000289672	T	0.25414	1.8	5.29	-1.59	0.08453	.	0.471757	0.19108	N	0.122518	T	0.18718	0.0449	L	0.50333	1.59	0.09310	N	1	P	0.39480	0.675	B	0.37091	0.241	T	0.08848	-1.0702	10	0.56958	D	0.05	-13.7243	6.4732	0.22020	0.1297:0.2859:0.5067:0.0777	.	2277	Q8TDX9	PK1L1_HUMAN	K	2277	ENSP00000289672:E2277K	ENSP00000289672:E2277K	E	-	1	0	PKD1L1	47833498	0.004000	0.15560	0.000000	0.03702	0.787000	0.44495	-0.129000	0.10515	-0.703000	0.05049	0.655000	0.94253	GAG		0.662	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		13	35	0	0	0	0.00245	0	13	35				
ABCA13	154664	broad.mit.edu	37	7	48315431	48315431	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:48315431A>G	ENST00000435803.1	+	17	6192	c.6168A>G	c.(6166-6168)gaA>gaG	p.E2056E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2056					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						ACAACTTTGAAGAACTATGGC	0.338																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(6166-6168)GAA>GAG		ATP binding cassette, sub-family A (ABC1),							42.0	39.0	40.0					7																	48315431		1817	4086	5903	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315431A>G	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.6168A>G	7.37:g.48315431A>G						ABCA13_uc010kyr.2_Silent_p.E1559E	p.E2056E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6193	+			2056					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.6168A>G	CCDS47584.1																																																																																				0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	30	0	0	0	0.004482	0	9	30				
TRIM50	135892	broad.mit.edu	37	7	72727283	72727283	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:72727283G>A	ENST00000333149.2	-	7	1298	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	TRIM50_ENST00000453152.1_Silent_p.I366I	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	366	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTGTGCCCTTGATGACCCCCA	0.672																																							uc010lbd.1		NA																	0				skin(1)	1						c.(1096-1098)ATC>ATT		tripartite motif protein 50A							18.0	18.0	18.0					7																	72727283		2198	4292	6490	SO:0001819	synonymous_variant	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72727283G>A	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.1098C>T	7.37:g.72727283G>A						FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.I366I|TRIM50_uc003txz.1_Silent_p.I365I	p.I366I	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			7	1223	-			366			B30.2/SPRY.		Q86XT3	Silent	SNP	ENST00000333149.2	37	c.1098C>T	CCDS34654.1																																																																																				0.672	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		3	8	0	0	0	0.004672	0	3	8				
CLIP2	7461	broad.mit.edu	37	7	73790803	73790803	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:73790803A>T	ENST00000395060.1	+	9	2072	c.2072A>T	c.(2071-2073)gAg>gTg	p.E691V	CLIP2_ENST00000223398.6_Missense_Mutation_p.E691V|CLIP2_ENST00000361545.5_Missense_Mutation_p.E656V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	691						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AAGCTGCAGGAGGCCCAGGAG	0.672																																							uc003uam.2		NA																	0				skin(3)	3						c.(2071-2073)GAG>GTG		CAP-GLY domain containing linker protein 2							27.0	31.0	30.0					7																	73790803		2202	4300	6502	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790803A>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2072A>T	7.37:g.73790803A>T	ENSP00000378500:p.Glu691Val					CLIP2_uc003uan.2_Missense_Mutation_p.E656V|CLIP2_uc003uao.2_Missense_Mutation_p.E85V	p.E691V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			10	2399	+			691			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2072A>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142065	0.77775	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.61510	0.12;0.1;0.12	4.97	4.97	0.65823	.	0.106321	0.64402	D	0.000005	T	0.60314	0.2259	L	0.32530	0.975	0.50467	D	0.999872	D;D;D	0.59357	0.982;0.985;0.974	P;P;P	0.56563	0.784;0.801;0.638	T	0.62840	-0.6769	10	0.52906	T	0.07	-35.0829	13.5173	0.61547	1.0:0.0:0.0:0.0	.	656;656;691	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	V	691;691;656;691	ENSP00000223398:E691V;ENSP00000355151:E656V;ENSP00000378500:E691V	ENSP00000223398:E691V	E	+	2	0	CLIP2	73428739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.578000	0.90777	1.869000	0.54173	0.369000	0.22263	GAG		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		5	18	0	0	0	0.000602	0	5	18				
GTF2I	2969	broad.mit.edu	37	7	74114663	74114663	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:74114663C>T	ENST00000324896.4	+	5	849	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154S|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154S|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154S|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGGGGCTTCCGGAAGGTGT	0.483																																							uc003uau.2		NA																	0					0						c.(460-462)CCG>TCG		general transcription factor IIi isoform 1							119.0	118.0	118.0					7																	74114663		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114663C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.460C>T	7.37:g.74114663C>T	ENSP00000322542:p.Pro154Ser					GTF2I_uc003uat.2_Missense_Mutation_p.P154S|GTF2I_uc003uav.2_Missense_Mutation_p.P154S|GTF2I_uc003uaw.2_Missense_Mutation_p.P154S|GTF2I_uc003uay.2_Missense_Mutation_p.P154S|GTF2I_uc003uax.2_Missense_Mutation_p.P154S|uc003uaz.2_RNA	p.P154S	NM_032999	NP_127492	P78347	GTF2I_HUMAN			5	830	+			154			GTF2I-like 1.		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.460C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973642	0.74246	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.41	5.41	0.78517	.	0.165289	0.42294	D	0.000729	D	0.89876	0.6842	M	0.87682	2.9	0.53688	D	0.999972	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.996;0.997;0.999;1.0;1.0	D	0.91411	0.5151	10	0.87932	D	0	-11.075	18.1767	0.89764	0.0:1.0:0.0:0.0	.	154;154;154;154;154;154	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	S	154;149;154;154;154;154	ENSP00000322542:P154S;ENSP00000322671:P154S;ENSP00000322599:P154S;ENSP00000387651:P154S;ENSP00000404240:P154S	ENSP00000322542:P154S	P	+	1	0	GTF2I	73752599	1.000000	0.71417	0.988000	0.46212	0.582000	0.36321	5.436000	0.66538	2.537000	0.85549	0.484000	0.47621	CCG		0.483	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		9	162	0	0	0	0.000978	0	9	162				
HGF	3082	broad.mit.edu	37	7	81381508	81381508	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:81381508C>T	ENST00000222390.5	-	5	779	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	HGF_ENST00000444829.2_Missense_Mutation_p.G185R|HGF_ENST00000457544.2_Missense_Mutation_p.G180R|HGF_ENST00000453411.1_Missense_Mutation_p.G180R|HGF_ENST00000423064.2_Missense_Mutation_p.G185R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	185	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGGGTCCCCCTTCTTCCCCT	0.448																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(553-555)GGG>AGG		hepatocyte growth factor isoform 1							144.0	126.0	132.0					7																	81381508		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381508C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.553G>A	7.37:g.81381508C>T	ENSP00000222390:p.Gly185Arg					HGF_uc003uhm.2_Missense_Mutation_p.G180R|HGF_uc003uhn.1_Missense_Mutation_p.G185R|HGF_uc003uho.1_Missense_Mutation_p.G180R|HGF_uc003uhp.2_Missense_Mutation_p.G185R	p.G185R	NM_000601	NP_000592	P14210	HGF_HUMAN			5	718	-			185			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.553G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691681	0.68271	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.237184	0.46145	D	0.000302	T	0.69824	0.3154	L	0.33753	1.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.995;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.972;0.968;0.99;1.0	T	0.59295	-0.7481	10	0.07990	T	0.79	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	220;180;185;180;185	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	R	185;180;185;180;185;185	ENSP00000222390:G185R;ENSP00000391238:G180R;ENSP00000389854:G185R;ENSP00000408270:G180R;ENSP00000413829:G185R	ENSP00000222390:G185R	G	-	1	0	HGF	81219444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.909000	0.39917	2.880000	0.98712	0.655000	0.94253	GGG		0.448	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		18	55	0	0	0	0.001216	0	18	55				
CACNA2D1	781	broad.mit.edu	37	7	81593551	81593551	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:81593551T>C	ENST00000356253.5	-	33	2990	c.2735A>G	c.(2734-2736)cAa>cGa	p.Q912R	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.Q112R|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Q900R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	912					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)	TCCTGCTCCTTGTTTTGGTGC	0.423																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2698-2700)CAA>CGA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						124.0	123.0	123.0					7																	81593551		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81593551T>C	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.2735A>G	7.37:g.81593551T>C	ENSP00000348589:p.Gln912Arg					CACNA2D1_uc011kgy.1_Missense_Mutation_p.Q112R	p.Q900R	NM_000722	NP_000713	P54289	CA2D1_HUMAN			33	2955	-			912			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2699A>G		.	.	.	.	.	.	.	.	.	.	T	11.47	1.647437	0.29246	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.71579	-0.58;-0.58;-0.58	5.46	5.46	0.80206	.	0.118609	0.64402	D	0.000014	T	0.62514	0.2434	L	0.47716	1.5	0.31376	N	0.6796	P;B	0.41784	0.762;0.217	B;B	0.37650	0.255;0.138	T	0.64976	-0.6280	10	0.15066	T	0.55	-16.2971	15.8736	0.79145	0.0:0.0:0.0:1.0	.	112;900	B7Z658;P54289-2	.;.	R	900;919;912;112	ENSP00000349320:Q900R;ENSP00000348589:Q912R;ENSP00000443124:Q112R	ENSP00000284088:Q919R	Q	-	2	0	CACNA2D1	81431487	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.787000	0.69013	2.209000	0.71365	0.524000	0.50904	CAA		0.423	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	103	0	0	0	0.000248	0	4	103				
PCLO	27445	broad.mit.edu	37	7	82544135	82544136	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:82544135_82544136CC>AA	ENST00000333891.9	-	7	13503_13504	c.13166_13167GG>TT	c.(13165-13167)aGG>aTT	p.R4389I	PCLO_ENST00000423517.2_Missense_Mutation_p.R4389I|PCLO_ENST00000437081.1_Missense_Mutation_p.R1109I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAACTGATCCCTGGTGTCTGC	0.525																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(13165-13167)AGG>ATT		piccolo isoform 1																																				SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544135_82544136CC>AA	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13166_13167delinsAA	7.37:g.82544135_82544136delinsAA	ENSP00000334319:p.Arg4389Ile					PCLO_uc003uhv.2_Missense_Mutation_p.R4389I|PCLO_uc010lec.2_Missense_Mutation_p.R1354I	p.R4389I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13455_13456	-			4320						Missense_Mutation	DNP	ENST00000333891.9	37	c.13166_13167GG>TT	CCDS47630.1																																																																																				0.525	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	29	0	0	0	0.004672	0	9	29				
PCLO	27445	broad.mit.edu	37	7	82585859	82585859	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:82585859C>G	ENST00000333891.9	-	5	4747	c.4410G>C	c.(4408-4410)gaG>gaC	p.E1470D	PCLO_ENST00000423517.2_Missense_Mutation_p.E1470D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTGACTCTCTTTGATCT	0.368																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(4408-4410)GAG>GAC		piccolo isoform 1							103.0	94.0	97.0					7																	82585859		1814	4085	5899	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585859C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4410G>C	7.37:g.82585859C>G	ENSP00000334319:p.Glu1470Asp					PCLO_uc003uhv.2_Missense_Mutation_p.E1470D	p.E1470D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4699	-			1401						Missense_Mutation	SNP	ENST00000333891.9	37	c.4410G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	3.456	-0.110975	0.06924	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15017	2.46;2.47	5.33	-6.12	0.02124	.	.	.	.	.	T	0.06917	0.0176	N	0.05441	-0.05	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.40098	-0.9581	9	0.87932	D	0	.	5.5319	0.16989	0.3124:0.2569:0.0:0.4307	.	1470;1470	Q9Y6V0-5;Q9Y6V0-6	.;.	D	1401;1470;1470	ENSP00000334319:E1470D;ENSP00000388393:E1470D	ENSP00000334319:E1470D	E	-	3	2	PCLO	82423795	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.594000	0.02094	-0.799000	0.04439	-1.215000	0.01618	GAG		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	100	0	0	0	0.001368	0	11	100				
SAMD9	54809	broad.mit.edu	37	7	92731170	92731170	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:92731170T>A	ENST00000379958.2	-	3	4510	c.4241A>T	c.(4240-4242)cAg>cTg	p.Q1414L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1414						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTCGAAGCTGATCTTTTAG	0.378																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4240-4242)CAG>CTG		sterile alpha motif domain containing 9							138.0	143.0	141.0					7																	92731170		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731170T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4241A>T	7.37:g.92731170T>A	ENSP00000369292:p.Gln1414Leu					SAMD9_uc003umg.2_Missense_Mutation_p.Q1414L	p.Q1414L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4497	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1414					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4241A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.558331	0.27827	.	.	ENSG00000205413	ENST00000379958	T	0.18016	2.24	4.56	3.31	0.37934	.	0.420119	0.21138	N	0.079526	T	0.11836	0.0288	L	0.29908	0.895	0.24730	N	0.993098	B	0.15141	0.012	B	0.08055	0.003	T	0.13818	-1.0495	10	0.32370	T	0.25	-5.3122	9.9689	0.41741	0.1521:0.0:0.0:0.8479	.	1414	Q5K651	SAMD9_HUMAN	L	1414	ENSP00000369292:Q1414L	ENSP00000369292:Q1414L	Q	-	2	0	SAMD9	92569106	0.541000	0.26417	1.000000	0.80357	0.947000	0.59692	1.414000	0.34736	2.034000	0.60081	0.491000	0.48974	CAG		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		26	102	0	0	0	0.005443	0	26	102				
SAMD9	54809	broad.mit.edu	37	7	92734837	92734837	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:92734837C>G	ENST00000379958.2	-	3	843	c.574G>C	c.(574-576)Gat>Cat	p.D192H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	192						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTATCGGATCAATGAGATTG	0.393																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(574-576)GAT>CAT		sterile alpha motif domain containing 9							142.0	130.0	134.0					7																	92734837		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734837C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.574G>C	7.37:g.92734837C>G	ENSP00000369292:p.Asp192His					SAMD9_uc003umg.2_Missense_Mutation_p.D192H	p.D192H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	830	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		192					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.574G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709196	0.48517	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.18502	2.21;2.21	4.7	4.7	0.59300	.	0.232542	0.34628	N	0.003816	T	0.37489	0.1005	L	0.55990	1.75	0.40353	D	0.979153	D	0.89917	1.0	D	0.74023	0.982	T	0.12167	-1.0558	10	0.62326	D	0.03	.	16.7006	0.85349	0.0:1.0:0.0:0.0	.	192	Q5K651	SAMD9_HUMAN	H	192	ENSP00000369292:D192H;ENSP00000414529:D192H	ENSP00000369292:D192H	D	-	1	0	SAMD9	92572773	0.997000	0.39634	1.000000	0.80357	0.249000	0.25844	1.852000	0.39348	2.613000	0.88420	0.603000	0.83216	GAT		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		21	87	0	0	0	0.001523	0	21	87				
COL1A2	1278	broad.mit.edu	37	7	94049556	94049556	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:94049556G>T	ENST00000297268.6	+	35	2562	c.2091G>T	c.(2089-2091)ggG>ggT	p.G697G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	697			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCGAAGCTGGGGctgctggtc	0.493										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2089-2091)GGG>GGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						130.0	126.0	128.0					7																	94049556		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94049556G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2091G>T	7.37:g.94049556G>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.G697G	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		35	2562	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		697		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2091G>T	CCDS34682.1																																																																																				0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		33	86	1	0	1.414e-09	0.003755	2.20814e-09	33	86				
TAC1	6863	broad.mit.edu	37	7	97361970	97361970	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:97361970C>A	ENST00000319273.5	+	2	343	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	TAC1_ENST00000350485.4_Missense_Mutation_p.Q16K|TAC1_ENST00000346867.4_Missense_Mutation_p.Q16K	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	16					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					TGTCTCCACTCAGCTGTTTGC	0.488																																							uc003uop.3		NA																	0					0						c.(46-48)CAG>AAG		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						153.0	144.0	147.0					7																	97361970		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97361970C>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.46C>A	7.37:g.97361970C>A	ENSP00000321106:p.Gln16Lys					TAC1_uc003uoq.3_Missense_Mutation_p.Q16K|TAC1_uc003uor.3_Missense_Mutation_p.Q16K|TAC1_uc003uos.3_Missense_Mutation_p.Q16K	p.Q16K	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	292	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		16					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.46C>A	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308731	0.81247	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	4.91	4.91	0.64330	.	0.058988	0.64402	D	0.000002	T	0.70211	0.3198	L	0.53249	1.67	0.45690	D	0.998607	P;D;P;P	0.58268	0.811;0.982;0.917;0.917	P;D;D;D	0.70227	0.879;0.968;0.915;0.915	T	0.71830	-0.4474	9	0.72032	D	0.01	-13.2288	13.7982	0.63184	0.0:1.0:0.0:0.0	.	16;16;16;16	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	K	16	.	ENSP00000321106:Q16K	Q	+	1	0	TAC1	97199906	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.194000	0.58393	2.724000	0.93272	0.561000	0.74099	CAG		0.488	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		32	107	1	0	2.85442e-18	0.002096	5.3841e-18	32	107				
LMTK2	22853	broad.mit.edu	37	7	97780744	97780744	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:97780744A>T	ENST00000297293.5	+	4	720	c.427A>T	c.(427-429)Att>Ttt	p.I143F	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATACAGGAAATTGGAAATGG	0.358																																							uc003upd.1		NA																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(427-429)ATT>TTT		lemur tyrosine kinase 2 precursor							125.0	120.0	122.0					7																	97780744		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97780744A>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.427A>T	7.37:g.97780744A>T	ENSP00000297293:p.Ile143Phe						p.I143F	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			4	720	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		143			ATP (By similarity).|Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.427A>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	33	5.285440	0.95517	.	.	ENSG00000164715	ENST00000297293	T	0.69926	-0.44	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89081	0.3476	10	0.72032	D	0.01	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	143	Q8IWU2	LMTK2_HUMAN	F	143	ENSP00000297293:I143F	ENSP00000297293:I143F	I	+	1	0	LMTK2	97618680	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.672000	0.74477	2.371000	0.80710	0.533000	0.62120	ATT		0.358	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		17	40	0	0	0	0.007413	0	17	40				
TRRAP	8295	broad.mit.edu	37	7	98546278	98546278	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:98546278G>A	ENST00000359863.4	+	34	4946	c.4737G>A	c.(4735-4737)ctG>ctA	p.L1579L	TRRAP_ENST00000355540.3_Silent_p.L1561L|TRRAP_ENST00000446306.3_Silent_p.L1560L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1579					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCCACACTGAACGATCCCC	0.527																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4735-4737)CTG>CTA		transformation/transcription domain-associated							110.0	101.0	104.0					7																	98546278		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98546278G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4737G>A	7.37:g.98546278G>A						TRRAP_uc011kis.1_Silent_p.L1561L|TRRAP_uc003upr.2_Silent_p.L1278L	p.L1579L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		34	4946	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1579					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4737G>A	CCDS59066.1																																																																																				0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		8	56	0	0	0	0.004482	0	8	56				
ATP5J2	9551	broad.mit.edu	37	7	99063748	99063748	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:99063748T>A	ENST00000292475.3	-	1	206	c.17A>T	c.(16-18)gAg>gTg	p.E6V	ATP5J2_ENST00000359832.4_Missense_Mutation_p.E6V|ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000466753.1_5'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000394186.3_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000488775.1_Intron	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	6					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCCGGACACTCACCAACTGA	0.647																																							uc003uqm.2		NA																	0				ovary(1)	1						c.(16-18)GAG>GTG		ATP synthase, H+ transporting, mitochondrial F0							95.0	85.0	88.0					7																	99063748		2203	4300	6503	SO:0001583	missense	9551				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)		g.chr7:99063748T>A	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.17A>T	7.37:g.99063748T>A	ENSP00000292475:p.Glu6Val					PTCD1_uc011kiw.1_Intron|ATP5J2_uc003uql.2_Intron|ATP5J2_uc003uqn.2_Intron|ATP5J2_uc003uqo.2_Missense_Mutation_p.E6V	p.E6V	NM_004889	NP_004880	P56134	ATPK_HUMAN			1	61	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		6					C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	c.17A>T	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536776	0.27475	.	.	ENSG00000241468	ENST00000359832;ENST00000292475;ENST00000523680	.	.	.	5.21	5.21	0.72293	.	0.875094	0.09849	N	0.747779	T	0.66297	0.2775	.	.	.	0.80722	D	1	P;P	0.47762	0.9;0.863	P;P	0.51170	0.628;0.661	T	0.63651	-0.6589	8	0.62326	D	0.03	.	11.4016	0.49873	0.0:0.0:0.0:1.0	.	6;6	F8W7V3;P56134	.;ATPK_HUMAN	V	6	.	ENSP00000292475:E6V	E	-	2	0	ATP5J2	98901684	1.000000	0.71417	0.988000	0.46212	0.084000	0.17831	3.387000	0.52501	2.194000	0.70268	0.459000	0.35465	GAG		0.647	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889		9	45	0	0	0	0.004482	0	9	45				
AP4M1	9179	broad.mit.edu	37	7	99701314	99701314	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:99701314A>T	ENST00000359593.4	+	6	700	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	AP4M1_ENST00000421755.1_Splice_Site_p.Q181L|AP4M1_ENST00000422582.1_Splice_Site_p.Q53L|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000429084.1_Splice_Site_p.Q188L|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000343023.6_5'Flank	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	181					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTCTGACCAGGTGAGGGAA	0.597																																					Pancreas(174;1182 2812 29595 49511)	Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NA																	0					0						c.(541-543)CAG>CTG		adaptor-related protein complex 4, mu 1 subunit							81.0	95.0	91.0					7																	99701314		2203	4300	6503	SO:0001630	splice_region_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701314A>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.543+1A>T	7.37:g.99701314A>T						MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.Q135L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q181L|AP4M1_uc003utc.3_Missense_Mutation_p.Q188L|AP4M1_uc010lgm.2_Missense_Mutation_p.Q53L|AP4M1_uc003utd.2_Missense_Mutation_p.Q181L|AP4M1_uc011kjh.1_Missense_Mutation_p.Q133L|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Missense_Mutation_p.Q53L	p.Q181L	NM_004722	NP_004713	O00189	AP4M1_HUMAN			6	750	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		181			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.542A>T	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291199	0.59976	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	4.72	4.72	0.59763	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	0.982;0.996;0.999;1.0	P;D;D;D	0.72338	0.826;0.951;0.977;0.977	T	0.26744	-1.0094	10	0.72032	D	0.01	-20.0662	12.1925	0.54278	1.0:0.0:0.0:0.0	.	137;133;188;181	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	L	113;188;181;137;181;53	ENSP00000401613:Q113L;ENSP00000403663:Q188L;ENSP00000352603:Q181L;ENSP00000414286:Q137L;ENSP00000412185:Q181L;ENSP00000406676:Q53L	ENSP00000352603:Q181L	Q	+	2	0	AP4M1	99539250	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.977000	0.70492	1.970000	0.57323	0.379000	0.24179	CAG		0.597	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722	Missense_Mutation	39	110	0	0	0	0.004289	0	39	110				
NYAP1	222950	broad.mit.edu	37	7	100091411	100091411	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100091411G>T	ENST00000300179.2	+	7	2570	c.2411G>T	c.(2410-2412)tGc>tTc	p.C804F	NYAP1_ENST00000454988.1_Missense_Mutation_p.C748F|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000423930.1_Missense_Mutation_p.C805F	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	804					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGAGGCCTCTGCAAGCAGGAG	0.731																																							uc003uvd.1		NA																	0				skin(1)	1						c.(2410-2412)TGC>TTC		hypothetical protein FLJ37538							10.0	11.0	11.0					7																	100091411		2127	4217	6344	SO:0001583	missense	222950							g.chr7:100091411G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2411G>T	7.37:g.100091411G>T	ENSP00000300179:p.Cys804Phe					C7orf51_uc003uve.1_Missense_Mutation_p.C587F	p.C804F	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			7	2570	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		804					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.2411G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402667	0.42613	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.59083	0.29;0.29;0.32	3.99	3.99	0.46301	.	0.000000	0.45867	D	0.000322	T	0.56001	0.1956	L	0.27053	0.805	0.54753	D	0.999985	D;D	0.58268	0.982;0.982	P;P	0.53809	0.735;0.735	T	0.62661	-0.6807	10	0.87932	D	0	-11.9393	13.9663	0.64211	0.0:0.0:1.0:0.0	.	748;804	C9JS30;Q6ZVC0	.;CG051_HUMAN	F	804;805;748	ENSP00000300179:C804F;ENSP00000411861:C805F;ENSP00000394424:C748F	ENSP00000300179:C804F	C	+	2	0	C7orf51	99929347	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	5.724000	0.68500	2.228000	0.72767	0.313000	0.20887	TGC		0.731	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		5	23	1	0	0.000602214	0.000602	0.000715729	5	23				
ZAN	7455	broad.mit.edu	37	7	100349983	100349983	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100349983C>A	ENST00000348028.3	+	0	2420				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCTCC	0.522																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2254-2256)CCC>CAC		zonadhesin isoform 3							124.0	139.0	134.0					7																	100349983		1821	4058	5879			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349983C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349983C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P752H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P752H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2420	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		752			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2255C>A		.	.	.	.	.	.	.	.	.	.	-	8.849	0.944235	0.18356	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71222	-0.55;-0.01;-0.55	4.31	3.42	0.39159	.	.	.	.	.	T	0.70090	0.3184	L	0.42245	1.32	0.19300	N	0.999977	P;P	0.49253	0.921;0.871	P;B	0.50378	0.639;0.436	T	0.60915	-0.7168	9	0.72032	D	0.01	.	10.5884	0.45296	0.0:0.9014:0.0:0.0986	.	752;752	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	752	ENSP00000445943:P752H;ENSP00000445091:P752H;ENSP00000444427:P752H	ENSP00000423579:P752H	P	+	2	0	ZAN	100187919	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.093000	0.11111	1.106000	0.41623	0.650000	0.86243	CCC		0.522	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		19	65	1	0	8.00594e-06	0.007413	1.06985e-05	19	65				
SLC12A9	56996	broad.mit.edu	37	7	100458871	100458871	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100458871G>T	ENST00000354161.3	+	10	1455	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	SLC12A9_ENST00000428758.1_Missense_Mutation_p.A444S|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A355S|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A355S|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A444S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	444					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGGCCTCGGCCCCCAACTT	0.642																																							uc003uwp.2		NA																	0					0						c.(1330-1332)GCC>TCC		solute carrier family 12 (potassium/chloride							96.0	94.0	95.0					7																	100458871		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100458871G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1330G>T	7.37:g.100458871G>T	ENSP00000275730:p.Ala444Ser					SLC12A9_uc003uwq.2_Missense_Mutation_p.A355S|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.A180S|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.A180S|SLC12A9_uc003uwv.2_5'UTR	p.A444S	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			10	1472	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		444			Cytoplasmic (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1330G>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112692	0.94339	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04	5.0	5.0	0.66597	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.77004	0.918;0.989	D	0.97612	1.0130	10	0.15952	T	0.53	.	15.8173	0.78612	0.0:0.0:1.0:0.0	.	355;444	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	S	444;444;355;355;444;70	ENSP00000443702:A444S;ENSP00000408301:A444S;ENSP00000275729:A355S;ENSP00000413796:A355S;ENSP00000275730:A444S	ENSP00000275729:A355S	A	+	1	0	SLC12A9	100296807	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	9.406000	0.97321	2.585000	0.87301	0.561000	0.74099	GCC		0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		16	89	1	0	1.15088e-07	0.004007	1.6584e-07	16	89				
MUC17	140453	broad.mit.edu	37	7	100685526	100685526	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100685526C>G	ENST00000306151.4	+	3	10893	c.10829C>G	c.(10828-10830)tCt>tGt	p.S3610C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3610	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTCAGAGC	0.468																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10828-10830)TCT>TGT		mucin 17 precursor							152.0	144.0	146.0					7																	100685526		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685526C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10829C>G	7.37:g.100685526C>G	ENSP00000302716:p.Ser3610Cys					MUC17_uc010lho.1_RNA	p.S3610C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10882	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3610			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10829C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.208	0.406540	0.11754	.	.	ENSG00000169876	ENST00000306151	T	0.02345	4.33	1.78	1.78	0.24846	.	.	.	.	.	T	0.06188	0.0160	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	D	0.81914	0.995	T	0.42531	-0.9446	9	0.56958	D	0.05	.	9.1432	0.36917	0.0:1.0:0.0:0.0	.	3610	Q685J3	MUC17_HUMAN	C	3610	ENSP00000302716:S3610C	ENSP00000302716:S3610C	S	+	2	0	MUC17	100472246	0.002000	0.14202	0.001000	0.08648	0.026000	0.11368	1.687000	0.37680	0.971000	0.38288	0.186000	0.17326	TCT		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	173	0	0	0	0.001984	0	6	173				
ORAI2	80228	broad.mit.edu	37	7	102079459	102079459	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:102079459C>G	ENST00000356387.2	+	3	291	c.56C>G	c.(55-57)cCc>cGc	p.P19R	ORAI2_ENST00000478730.2_Missense_Mutation_p.P19R|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000473939.1_Missense_Mutation_p.P19R|ORAI2_ENST00000403646.3_Missense_Mutation_p.P19R	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	19						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.P19L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TGCCCTGAGCCCGGCCATAAG	0.617																																							uc010lhz.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|kidney(1)	2						c.(55-57)CCC>CGC		ORAI calcium release-activated calcium modulator							118.0	106.0	110.0					7																	102079459		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102079459C>G	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.56C>G	7.37:g.102079459C>G	ENSP00000348752:p.Pro19Arg					ORAI2_uc003uzj.2_Missense_Mutation_p.P19R|ORAI2_uc003uzk.2_Missense_Mutation_p.P19R|ORAI2_uc011kks.1_Intron	p.P19R	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN			3	291	+			19					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.56C>G	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451509	0.26074	.	.	ENSG00000160991	ENST00000482237;ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000498661;ENST00000473939	T;T;T;T;T;T;T;T	0.62639	0.01;1.54;1.55;1.55;1.53;1.55;0.99;1.55	5.38	4.5	0.54988	.	0.424968	0.22758	N	0.056000	T	0.39963	0.1098	N	0.12182	0.205	0.36201	D	0.850713	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.21014	T	0.42	-26.4701	8.867	0.35291	0.0:0.7714:0.1495:0.0791	.	19	Q96SN7	ORAI2_HUMAN	R	19	ENSP00000419416:P19R;ENSP00000420178:P19R;ENSP00000348752:P19R;ENSP00000418140:P19R;ENSP00000417407:P19R;ENSP00000385489:P19R;ENSP00000418464:P19R;ENSP00000417928:P19R	ENSP00000348752:P19R	P	+	2	0	ORAI2	101866464	0.220000	0.23631	0.726000	0.30738	0.633000	0.38033	1.899000	0.39818	1.269000	0.44280	0.563000	0.77884	CCC		0.617	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		22	77	0	0	0	0.004656	0	22	77				
SLC26A5	375611	broad.mit.edu	37	7	103061306	103061306	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:103061306T>A	ENST00000306312.3	-	4	432	c.171A>T	c.(169-171)atA>atT	p.I57I	SLC26A5_ENST00000393727.1_Silent_p.I57I|SLC26A5_ENST00000393723.1_Silent_p.I57I|SLC26A5_ENST00000393730.1_Silent_p.I57I|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393729.1_Silent_p.I57I|SLC26A5_ENST00000356767.4_Silent_p.I57I|SLC26A5_ENST00000339444.6_Silent_p.I57I|SLC26A5_ENST00000432958.2_Silent_p.I57I|SLC26A5_ENST00000393735.2_Silent_p.I57I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	57					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGATATTTCTTATTTTTTTAG	0.358																																							uc003vbz.2		NA																	0				ovary(1)	1						c.(169-171)ATA>ATT		prestin isoform a							72.0	75.0	74.0					7																	103061306		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103061306T>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.171A>T	7.37:g.103061306T>A						SLC26A5_uc003vbt.1_Silent_p.I57I|SLC26A5_uc003vbu.1_Silent_p.I57I|SLC26A5_uc003vbv.1_Silent_p.I57I|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.I57I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.I57I	NM_198999	NP_945350	P58743	S26A5_HUMAN			4	407	-			57			Cytoplasmic (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.171A>T	CCDS5733.1																																																																																				0.358	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		16	53	0	0	0	0.004007	0	16	53				
KMT2E	55904	broad.mit.edu	37	7	104747098	104747098	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:104747098C>G	ENST00000311117.3	+	20	3271	c.2726C>G	c.(2725-2727)tCt>tGt	p.S909C	KMT2E_ENST00000257745.4_Missense_Mutation_p.S909C|KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.S909C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	909					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATGGACCCATCTTTTGCCACG	0.433																																							uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2725-2727)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia 5							159.0	161.0	161.0					7																	104747098		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104747098C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2726C>G	7.37:g.104747098C>G	ENSP00000312379:p.Ser909Cys					MLL5_uc010ljc.2_Missense_Mutation_p.S909C|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank|MLL5_uc010ljh.1_5'Flank	p.S909C	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			20	3260	+			909					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2726C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594500	0.28445	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91996	-2.95;-2.6;-2.95	5.34	5.34	0.76211	.	0.391268	0.24422	N	0.038663	D	0.87152	0.6106	L	0.27053	0.805	0.80722	D	1	B	0.28512	0.214	B	0.31751	0.135	D	0.85478	0.1177	10	0.59425	D	0.04	.	12.0383	0.53438	0.0:0.875:0.0:0.125	.	909	Q8IZD2	MLL5_HUMAN	C	909;909;909;829;909	ENSP00000312379:S909C;ENSP00000335599:S909C;ENSP00000257745:S909C	ENSP00000257745:S909C	S	+	2	0	MLL5	104534334	0.993000	0.37304	0.998000	0.56505	0.981000	0.71138	2.845000	0.48254	2.491000	0.84063	0.585000	0.79938	TCT		0.433	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			7	166	0	0	0	0.001984	0	7	166				
PUS7	54517	broad.mit.edu	37	7	105146454	105146454	+	Missense_Mutation	SNP	C	C	A	rs141658791		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:105146454C>A	ENST00000356362.2	-	4	747	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PUS7_ENST00000469408.1_Missense_Mutation_p.R178L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	178					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTCTTCCAATCGCTGCTTTTC	0.338																																					Colon(138;2387 3051 17860)	Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(532-534)CGA>CTA		pseudouridylate synthase 7 homolog							117.0	129.0	125.0					7																	105146454		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105146454C>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.533G>T	7.37:g.105146454C>A	ENSP00000348722:p.Arg178Leu					PUS7_uc010lji.2_Missense_Mutation_p.R178L|PUS7_uc003vcy.2_Missense_Mutation_p.R178L|PUS7_uc003vcz.1_Missense_Mutation_p.R178L	p.R178L	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			4	752	-			178					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.533G>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321682	0.41096	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.44881	0.91;0.91	5.46	0.0215	0.14129	Pseudouridine synthase, catalytic domain (1);	0.178623	0.52532	D	0.000064	T	0.25158	0.0611	L	0.43923	1.385	0.40595	D	0.981528	B;P	0.37864	0.007;0.61	B;B	0.27715	0.006;0.082	T	0.07829	-1.0752	10	0.22706	T	0.39	-31.0028	9.2211	0.37377	0.0:0.5859:0.0:0.4141	.	178;178	B3KY42;Q96PZ0	.;PUS7_HUMAN	L	178	ENSP00000348722:R178L;ENSP00000417402:R178L	ENSP00000348722:R178L	R	-	2	0	PUS7	104933690	0.891000	0.30450	0.976000	0.42696	0.975000	0.68041	0.716000	0.25836	-0.215000	0.10063	-0.448000	0.05591	CGA		0.338	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		38	154	1	0	1.96642e-18	0.006999	3.71435e-18	38	154				
CBLL1	79872	broad.mit.edu	37	7	107399464	107399464	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107399464G>C	ENST00000440859.3	+	6	1784	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	CBLL1_ENST00000222597.2_Silent_p.L438L	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	439	Pro-rich.			L -> P (in Ref. 1; BAB15544). {ECO:0000305}.	negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGAACTCTGAGCCCTCCAT	0.537																																							uc003veq.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1315-1317)CTG>CTC		Cas-Br-M (murine) ecotropic retroviral							164.0	150.0	155.0					7																	107399464		2203	4300	6503	SO:0001819	synonymous_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399464G>C	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1317G>C	7.37:g.107399464G>C						CBLL1_uc011kme.1_Silent_p.L318L|CBLL1_uc011kmf.1_Silent_p.L438L	p.L439L	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	1647	+			439	L -> P (in Ref. 1; BAB15544).		Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Silent	SNP	ENST00000440859.3	37	c.1317G>C	CCDS5747.1																																																																																				0.537	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		6	101	0	0	0	0.001168	0	6	101				
LAMB4	22798	broad.mit.edu	37	7	107688526	107688526	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107688526C>A	ENST00000388781.3	-	28	4236	c.4153G>T	c.(4153-4155)Gtg>Ttg	p.V1385L	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1385L|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1385L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1385	Domain alpha.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCAAGGGCACACATGGCACA	0.502																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4153-4155)GTG>TTG		laminin, beta 4 precursor							76.0	82.0	80.0					7																	107688526		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107688526C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4153G>T	7.37:g.107688526C>A	ENSP00000373433:p.Val1385Leu					LAMB4_uc003vey.2_Missense_Mutation_p.V1385L|LAMB4_uc010ljp.1_Missense_Mutation_p.V354L	p.V1385L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			28	4237	-			1385			Domain alpha.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4153G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642368	0.29246	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30714	1.52;1.52;1.94;1.54	4.49	1.04	0.20106	.	1.282800	0.06050	N	0.656405	T	0.18509	0.0444	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.008;0.118	B;B	0.19666	0.022;0.026	T	0.29610	-1.0006	10	0.23891	T	0.37	.	9.0752	0.36517	0.0:0.7628:0.0:0.2372	.	1385;1385	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1385;1385;411;1385	ENSP00000205386:V1385L;ENSP00000373433:V1385L;ENSP00000416562:V411L;ENSP00000373432:V1385L	ENSP00000205386:V1385L	V	-	1	0	LAMB4	107475762	0.001000	0.12720	0.000000	0.03702	0.293000	0.27360	0.232000	0.17891	0.005000	0.14708	0.467000	0.42956	GTG		0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		26	130	1	0	1.17739e-12	0.005443	2.00665e-12	26	130				
NRCAM	4897	broad.mit.edu	37	7	107823167	107823167	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107823167A>T	ENST00000425651.2	-	20	2501	c.2502T>A	c.(2500-2502)gcT>gcA	p.A834A	NRCAM_ENST00000379022.4_Silent_p.A834A|NRCAM_ENST00000379028.3_Silent_p.A834A|NRCAM_ENST00000351718.4_Silent_p.A818A|NRCAM_ENST00000379024.4_Silent_p.A815A|NRCAM_ENST00000413765.2_Silent_p.A815A	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	834	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCATGACTACAGCTGGCTCGG	0.483																																							uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(2500-2502)GCT>GCA		neuronal cell adhesion molecule isoform A							81.0	77.0	78.0					7																	107823167		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107823167A>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2502T>A	7.37:g.107823167A>T						NRCAM_uc003vfc.2_Silent_p.A818A|NRCAM_uc011kmk.1_Silent_p.A829A|NRCAM_uc003vfd.2_Silent_p.A810A|NRCAM_uc003vfe.2_Silent_p.A810A	p.A834A	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			23	2973	-			834			Fibronectin type-III 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.2502T>A	CCDS47686.1																																																																																				0.483	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		10	46	0	0	0	0.008291	0	10	46				
LRRN3	54674	broad.mit.edu	37	7	110763749	110763750	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:110763749_110763750CC>AA	ENST00000422987.3	+	2	1752_1753	c.921_922CC>AA	c.(919-924)aaCCtg>aaAAtg	p.307_308NL>KM	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.307_308NL>KM|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.307_308NL>KM|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	307					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTGTGGATAACCTGCCAGATTT	0.396																																							uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(919-924)AACCTG>AAAATG		leucine rich repeat neuronal 3 precursor																																				SO:0001583	missense	54674					integral to membrane		g.chr7:110763749_110763750CC>AA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	Exception_encountered	7.37:g.110763749_110763750delinsAA	ENSP00000412417:p.N307_L308delinsKM					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.307_308NL>KM|LRRN3_uc003vfs.3_Missense_Mutation_p.307_308NL>KM	p.307_308NL>KM	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1967_1968	+			307_308			Extracellular (Potential).		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	DNP	ENST00000422987.3	37	c.921_922CC>AA	CCDS5754.1																																																																																				0.396	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	69	0	0	0	0.004672	0	8	69				
PPP1R3A	5506	broad.mit.edu	37	7	113519495	113519495	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:113519495C>A	ENST00000284601.3	-	4	1720	c.1652G>T	c.(1651-1653)aGt>aTt	p.S551I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	551					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						CCCTGCCACACTTATTTTAGG	0.413																																							uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1651-1653)AGT>ATT		protein phosphatase 1, regulatory (inhibitor)							105.0	97.0	100.0					7																	113519495		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519495C>A	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.1652G>T	7.37:g.113519495C>A	ENSP00000284601:p.Ser551Ile						p.S551I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1683	-			551					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1652G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139316	0.37728	.	.	ENSG00000154415	ENST00000284601	T	0.19105	2.17	6.02	3.25	0.37280	.	0.572253	0.18110	N	0.151394	T	0.15869	0.0382	L	0.59436	1.845	0.09310	N	1	P	0.45902	0.868	B	0.34038	0.174	T	0.28459	-1.0043	10	0.87932	D	0	-0.4473	4.8812	0.13681	0.0:0.5448:0.1688:0.2865	.	551	Q16821	PPR3A_HUMAN	I	551	ENSP00000284601:S551I	ENSP00000284601:S551I	S	-	2	0	PPP1R3A	113306731	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.198000	0.09505	0.434000	0.26340	0.655000	0.94253	AGT		0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		14	63	1	0	3.35478e-16	0.003163	6.13823e-16	14	63				
KCND2	3751	broad.mit.edu	37	7	119915331	119915331	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:119915331C>T	ENST00000331113.4	+	1	1610	c.645C>T	c.(643-645)caC>caT	p.H215H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	215					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCCCAGGTCACATTAAAGAAC	0.537																																							uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(643-645)CAC>CAT		potassium voltage-gated channel, Shal-related							116.0	107.0	110.0					7																	119915331		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915331C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.645C>T	7.37:g.119915331C>T							p.H215H	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1610	+	all_neural(327;0.117)		215					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.645C>T	CCDS5776.1																																																																																				0.537	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		6	36	0	0	0	0.001168	0	6	36				
CPED1	79974	broad.mit.edu	37	7	120655759	120655759	+	Missense_Mutation	SNP	G	G	A	rs201993865		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:120655759G>A	ENST00000310396.5	+	3	757	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	CPED1_ENST00000340646.5_Missense_Mutation_p.R97Q|CPED1_ENST00000450913.2_Missense_Mutation_p.R97Q|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	97						endoplasmic reticulum (GO:0005783)											AGCCATGGCCGAAGGGCCATA	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18289	0.0		0.0	False		,,,				2504	0.0						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(289-291)CGA>CAA		hypothetical protein LOC79974 isoform 1							67.0	59.0	62.0					7																	120655759		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120655759G>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.290G>A	7.37:g.120655759G>A	ENSP00000309772:p.Arg97Gln					C7orf58_uc003vjr.1_Missense_Mutation_p.R97Q|C7orf58_uc003vjs.3_Missense_Mutation_p.R97Q	p.R97Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			3	737	+	all_neural(327;0.117)		97					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.290G>A	CCDS34739.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.85	3.490202	0.64074	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.84	5.84	0.93424	.	0.068169	0.64402	D	0.000020	T	0.67429	0.2892	M	0.68952	2.095	0.33458	D	0.584533	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.76113	-0.3078	10	0.72032	D	0.01	.	15.6393	0.76984	0.0:0.0:1.0:0.0	.	97;97	A4D0V7-2;A4D0V7	.;CG058_HUMAN	Q	97	ENSP00000309772:R97Q;ENSP00000398082:R97Q;ENSP00000406122:R97Q;ENSP00000345235:R97Q	ENSP00000309772:R97Q	R	+	2	0	C7orf58	120442995	1.000000	0.71417	0.990000	0.47175	0.038000	0.13279	3.488000	0.53229	2.751000	0.94390	0.591000	0.81541	CGA		0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		5	63	0	0	0	0.000602	0	5	63				
CADPS2	93664	broad.mit.edu	37	7	121985728	121985728	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:121985728C>T	ENST00000449022.2	-	28	3531	c.3512G>A	c.(3511-3513)gGa>gAa	p.G1171E	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.G1130E|RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.G1169E|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.G1130E	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1171					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGATCCATTCCTGGTTTCTG	0.318																																							uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3511-3513)GGA>GAA		Ca2+-dependent activator protein for secretion 2							123.0	118.0	119.0					7																	121985728		1813	4070	5883	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121985728C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3512G>A	7.37:g.121985728C>T	ENSP00000398481:p.Gly1171Glu					CADPS2_uc011knx.1_Missense_Mutation_p.G546E|CADPS2_uc003vkg.3_Missense_Mutation_p.G825E|CADPS2_uc010lkq.2_Missense_Mutation_p.G1130E	p.G1171E	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			27	3675	-			1171					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3512G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.531679|5.531679	0.96446|0.96446	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000462699|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62901|0.62901	0.2466|0.2466	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.989;0.995;0.989;1.0	.|P;D;P;D	.|0.97110	.|0.799;0.962;0.799;1.0	T|T	0.63928|0.63928	-0.6526|-0.6526	5|10	.|0.66056	.|D	.|0.02	-22.2132|-22.2132	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1175;1130;1171;1125	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.;.;CAPS2_HUMAN;.	K|E	365|344;1130;1169;1176;1097;1130;1171	.|ENSP00000325581:G1130E;ENSP00000333940:G1169E;ENSP00000400401:G1130E;ENSP00000398481:G1171E	.|ENSP00000325581:G1130E	E|G	-|-	1|2	0|0	CADPS2|CADPS2	121772964|121772964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.318	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	85	0	0	0	0.008291	0	11	85				
ASB15	142685	broad.mit.edu	37	7	123257734	123257734	+	Nonsense_Mutation	SNP	G	G	T	rs375860525		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:123257734G>T	ENST00000451558.1	+	9	915	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E132*|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E132*|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Nonsense_Mutation_p.E132*|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E132*			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	132					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AACTTTATTAGAAAAGGGAGT	0.388																																							uc003vku.1		NA																	0				skin(2)|lung(1)	3						c.(394-396)GAA>TAA		ankyrin repeat and SOCS box-containing 15							91.0	91.0	91.0					7																	123257734		2203	4300	6503	SO:0001587	stop_gained	142685				intracellular signal transduction			g.chr7:123257734G>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.394G>T	7.37:g.123257734G>T	ENSP00000397655:p.Glu132*					ASB15_uc003vkv.1_Nonsense_Mutation_p.E132*|ASB15_uc003vkw.1_Nonsense_Mutation_p.E132*	p.E132*	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			7	686	+			132			ANK 1.		Q3ZCP3|Q3ZCP5|Q68D37	Nonsense_Mutation	SNP	ENST00000451558.1	37	c.394G>T	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612772	0.87258	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	.	.	.	5.7	5.7	0.88788	.	0.352111	0.28296	N	0.015874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.6896	19.4391	0.94811	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000275699:E132X	E	+	1	0	ASB15	123044970	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	5.520000	0.67080	2.700000	0.92200	0.655000	0.94253	GAA		0.388	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			10	45	1	0	2.80697e-09	0.000978	4.35308e-09	10	45				
GPR37	2861	broad.mit.edu	37	7	124404327	124404327	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:124404327G>A	ENST00000303921.2	-	1	1354	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	235					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCCCGGCGGGGACCCCCAGG	0.632																																							uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(703-705)CCC>CTC		G protein-coupled receptor 37 precursor							40.0	43.0	42.0					7																	124404327		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404327G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.704C>T	7.37:g.124404327G>A	ENSP00000306449:p.Pro235Leu						p.P235L	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1355	-			235			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.704C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174633	0.21704	.	.	ENSG00000170775	ENST00000303921	T	0.72167	-0.63	5.49	3.71	0.42584	.	0.410273	0.27076	N	0.021050	T	0.52338	0.1728	N	0.19112	0.55	0.30416	N	0.778637	B	0.06786	0.001	B	0.04013	0.001	T	0.50583	-0.8811	10	0.41790	T	0.15	-15.8821	8.2541	0.31743	0.1763:0.0:0.8237:0.0	.	235	O15354	GPR37_HUMAN	L	235	ENSP00000306449:P235L	ENSP00000306449:P235L	P	-	2	0	GPR37	124191563	0.850000	0.29656	0.729000	0.30791	0.180000	0.23129	2.527000	0.45615	0.903000	0.36546	-0.157000	0.13467	CCC		0.632	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		6	41	0	0	0	0.001168	0	6	41				
GRM8	2918	broad.mit.edu	37	7	126883160	126883160	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:126883160G>A	ENST00000339582.2	-	2	907	c.99C>T	c.(97-99)agC>agT	p.S33S	GRM8_ENST00000358373.3_Silent_p.S33S|GRM8_ENST00000405249.1_Silent_p.S33S|GRM8_ENST00000444921.2_Silent_p.S33S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	33					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CATACTCCTGGCTGTGAGTTC	0.532										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(97-99)AGC>AGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						93.0	91.0	92.0					7																	126883160		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883160G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.99C>T	7.37:g.126883160G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S33S|GRM8_uc010lkz.1_RNA	p.S33S	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	410	-		Prostate(267;0.186)	33					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.99C>T	CCDS5794.1																																																																																				0.532	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			21	79	0	0	0	0.001882	0	21	79				
PAX4	5078	broad.mit.edu	37	7	127255572	127255572	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:127255572C>A	ENST00000338516.3	-	2	26	c.27G>T	c.(25-27)atG>atT	p.M9I	PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Start_Codon_SNP_p.M1I|PAX4_ENST00000341640.2_Start_Codon_SNP_p.M1I			O43316	PAX4_HUMAN	paired box 4	9	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAAGCTGGTTCATGCTGCTGA	0.637																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(1-3)ATG>ATT		paired box 4							73.0	76.0	75.0					7																	127255572		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255572C>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000338516.3:c.27G>T	7.37:g.127255572C>A	ENSP00000344297:p.Met9Ile					PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.M1I|PAX4_uc003vmh.2_5'UTR	p.M1I	NM_006193	NP_006184	O43316	PAX4_HUMAN			1	209	-			9			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000338516.3	37	c.3G>T		.	.	.	.	.	.	.	.	.	.	C	11.48	1.650493	0.29336	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99214	-5.57;-5.57	5.67	2.76	0.32466	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.464054	0.22369	N	0.060975	D	0.95746	0.8616	N	0.02842	-0.48	0.25246	N	0.989716	B;B	0.06786	0.001;0.0	B;B	0.15052	0.007;0.012	D	0.88722	0.3230	10	0.46703	T	0.11	.	15.4988	0.75680	0.0:0.4429:0.5571:0.0	.	1;9	O43316-4;O43316	.;PAX4_HUMAN	I	1;9;9	ENSP00000339906:M1I;ENSP00000344297:M9I	ENSP00000344297:M9I	M	-	3	0	PAX4	127042808	0.982000	0.34865	0.923000	0.36655	0.436000	0.31835	0.128000	0.15810	0.276000	0.22118	0.655000	0.94253	ATG		0.637	PAX4-201	KNOWN	basic	protein_coding	protein_coding				16	45	1	0	2.35188e-11	0.006122	3.89948e-11	16	45				
IMPDH1	3614	broad.mit.edu	37	7	128034338	128034338	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128034338A>C	ENST00000480861.1	-	13	1579	c.1502T>G	c.(1501-1503)cTg>cGg	p.L501R	IMPDH1_ENST00000419067.2_Missense_Mutation_p.L558R|IMPDH1_ENST00000354269.5_Missense_Mutation_p.L581R|IMPDH1_ENST00000343214.4_Missense_Mutation_p.L481R|IMPDH1_ENST00000378717.4_Missense_Mutation_p.L522R|IMPDH1_ENST00000496200.1_Missense_Mutation_p.L481R|IMPDH1_ENST00000338791.6_Missense_Mutation_p.L591R|IMPDH1_ENST00000348127.6_Missense_Mutation_p.L555R|IMPDH1_ENST00000470772.1_Missense_Mutation_p.L505R	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTACGAGTGCAGGCCATGGAC	0.592																																							uc011kol.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(1516-1518)CTG>CGG		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						116.0	93.0	101.0					7																	128034338		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034338A>C		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1502T>G	7.37:g.128034338A>C	ENSP00000420185:p.Leu501Arg					IMPDH1_uc011kom.1_Missense_Mutation_p.L501R|IMPDH1_uc003vmt.2_Missense_Mutation_p.L481R|IMPDH1_uc003vmu.2_Missense_Mutation_p.L591R|IMPDH1_uc003vmw.2_Missense_Mutation_p.L581R|IMPDH1_uc011kon.1_Missense_Mutation_p.L558R|IMPDH1_uc003vmv.2_Missense_Mutation_p.L555R|IMPDH1_uc003vmx.2_Missense_Mutation_p.L514R|IMPDH1_uc003vmy.2_Missense_Mutation_p.L522R|uc011koo.1_5'Flank	p.L506R	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			13	1623	-			506						Missense_Mutation	SNP	ENST00000480861.1	37	c.1517T>G	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355756	0.82243	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.14	5.14	0.70334	Aldolase-type TIM barrel (1);	0.000000	0.64402	D	0.000001	D	0.90642	0.7065	M	0.92122	3.275	0.80722	D	1	P;D;D;D;D;D;D	0.69078	0.918;0.991;0.967;0.982;0.997;0.995;0.995	P;P;P;P;D;P;P	0.63381	0.668;0.759;0.759;0.823;0.914;0.823;0.878	D	0.92675	0.6153	10	0.87932	D	0	-16.0915	12.9371	0.58320	1.0:0.0:0.0:0.0	.	558;501;506;522;555;591;481	C9JV30;B4DE09;P20839;E7EQS0;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.	R	558;591;481;581;522;555;481;505;501	ENSP00000399400:L558R;ENSP00000345096:L591R;ENSP00000420803:L481R;ENSP00000346219:L581R;ENSP00000367989:L522R;ENSP00000265385:L555R;ENSP00000342438:L481R;ENSP00000417296:L505R;ENSP00000420185:L501R	ENSP00000345096:L591R	L	-	2	0	IMPDH1	127821574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.175000	0.77632	1.935000	0.56089	0.459000	0.35465	CTG		0.592	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		4	28	0	0	0	0.000602	0	4	28				
CALU	813	broad.mit.edu	37	7	128398927	128398927	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128398927G>T	ENST00000249364.4	+	4	520	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	RN7SL81P_ENST00000493781.2_RNA|CALU_ENST00000535011.2_Missense_Mutation_p.D140Y|CALU_ENST00000538546.1_5'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.D148Y|CALU_ENST00000449187.2_Missense_Mutation_p.D140Y|CALU_ENST00000542996.2_Missense_Mutation_p.D148Y|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	140					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TTTTCTAGATGATCCAGATCC	0.363																																							uc003vns.2		NA																	0					0						c.(418-420)GAT>TAT		calumenin isoform b precursor							113.0	120.0	118.0					7																	128398927		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128398927G>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.418G>T	7.37:g.128398927G>T	ENSP00000249364:p.Asp140Tyr					CALU_uc003vnq.2_Missense_Mutation_p.D140Y|CALU_uc003vnr.2_Missense_Mutation_p.D140Y	p.D140Y	NM_001130674	NP_001124146	O43852	CALU_HUMAN			4	570	+			140					B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.418G>T	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783064	0.90282	.	.	ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000537667;ENST00000535011;ENST00000537014;ENST00000249364;ENST00000449187;ENST00000479257	T;T;T;T;T	0.16324	2.56;2.35;2.61;2.57;2.61	6.07	6.07	0.98685	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	M	0.80028	2.48	0.80722	D	1	P;P	0.43662	0.814;0.804	P;P	0.48270	0.534;0.572	T	0.01702	-1.1292	10	0.27785	T	0.31	-11.3577	18.1463	0.89656	0.0:0.0:1.0:0.0	.	148;140	D6QS48;O43852	.;CALU_HUMAN	Y	148;140;140;140;140;140;140;148	ENSP00000438248:D148Y;ENSP00000442110:D140Y;ENSP00000249364:D140Y;ENSP00000408838:D140Y;ENSP00000420381:D148Y	ENSP00000249364:D140Y	D	+	1	0	CALU	128186163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.405000	0.80007	2.890000	0.99128	0.585000	0.79938	GAT		0.363	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		25	83	1	0	9.86323e-18	0.003954	1.84489e-17	25	83				
TNPO3	23534	broad.mit.edu	37	7	128612603	128612604	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128612603_128612604CC>AA	ENST00000265388.5	-	19	2449_2450	c.2306_2307GG>TT	c.(2305-2307)cGG>cTT	p.R769L	TNPO3_ENST00000471166.1_Missense_Mutation_p.R803L|TNPO3_ENST00000471234.1_Missense_Mutation_p.R705L|TNPO3_ENST00000482320.1_Missense_Mutation_p.R703L|TNPO3_ENST00000393245.1_Missense_Mutation_p.R803L|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	769					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCACTTGGCTCCGCAGCAAGGT	0.495																																					Pancreas(147;583 2585 39696 52331)	Pancreas(147;583 2585 39696 52331)	uc003vol.1		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2305-2307)CGG>CTT		transportin 3																																				SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128612603_128612604CC>AA	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2306_2307delinsAA	7.37:g.128612603_128612604delinsAA	ENSP00000265388:p.Arg769Leu					TNPO3_uc010llx.1_Missense_Mutation_p.R180L|TNPO3_uc003vom.1_Missense_Mutation_p.R703L|TNPO3_uc010lly.1_Missense_Mutation_p.R803L|TNPO3_uc010llz.1_Missense_Mutation_p.R705L	p.R769L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			19	2680_2681	-			769					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	DNP	ENST00000265388.5	37	c.2306_2307GG>TT	CCDS5809.1																																																																																				0.495	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		7	36	0	0	0	0.004672	0	7	36				
STRIP2	57464	broad.mit.edu	37	7	129096289	129096289	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:129096289G>T	ENST00000249344.2	+	9	884	c.844G>T	c.(844-846)Ggt>Tgt	p.G282C	STRIP2_ENST00000435494.2_Missense_Mutation_p.G282C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	282					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GTTTACCCTCGGTGGATTTGA	0.512																																							uc011koy.1		NA																	0					0						c.(844-846)GGT>TGT		hypothetical protein LOC57464 isoform a							66.0	68.0	67.0					7																	129096289		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129096289G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.844G>T	7.37:g.129096289G>T	ENSP00000249344:p.Gly282Cys					FAM40B_uc003vow.2_Missense_Mutation_p.G282C|FAM40B_uc011koz.1_5'Flank	p.G282C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			9	884	+			282					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.844G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846222	0.91277	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	D;D	0.89681	-2.48;-2.55	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96030	0.9016	10	0.87932	D	0	-15.1596	18.6318	0.91363	0.0:0.0:1.0:0.0	.	282;282	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	282	ENSP00000249344:G282C;ENSP00000392393:G282C	ENSP00000249344:G282C	G	+	1	0	FAM40B	128883525	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	9.383000	0.97214	2.758000	0.94735	0.561000	0.74099	GGT		0.512	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	70	1	0	1.23904e-05	0.000602	1.62503e-05	4	70				
PLXNA4	91584	broad.mit.edu	37	7	132192749	132192749	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:132192749G>T	ENST00000359827.3	-	2	1666	c.704C>A	c.(703-705)aCc>aAc	p.T235N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.T235N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.T235N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.T235N			Q9HCM2	PLXA4_HUMAN	plexin A4	235	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGGATGATGGTGAAGGTGTC	0.488																																							uc003vra.3		NA																	0				ovary(1)	1						c.(703-705)ACC>AAC		plexin A4 isoform 1							119.0	111.0	113.0					7																	132192749		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192749G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.704C>A	7.37:g.132192749G>T	ENSP00000352882:p.Thr235Asn					PLXNA4_uc003vrc.2_Missense_Mutation_p.T235N|PLXNA4_uc003vrb.2_Missense_Mutation_p.T235N	p.T235N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	933	-			235			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.704C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030496	0.54790	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.26268	0.0641	L	0.51422	1.61	0.58432	D	0.999999	P;P;P	0.51057	0.723;0.941;0.741	P;P;B	0.60012	0.62;0.867;0.388	T	0.00162	-1.1970	10	0.27082	T	0.32	.	19.8377	0.96663	0.0:0.0:1.0:0.0	.	235;235;235	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	235	ENSP00000323194:T235N;ENSP00000352882:T235N;ENSP00000392772:T235N;ENSP00000367800:T235N	ENSP00000323194:T235N	T	-	2	0	PLXNA4	131843289	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.062000	0.89475	2.711000	0.92665	0.561000	0.74099	ACC		0.488	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		22	58	1	0	2.52088e-20	0.00278	4.85034e-20	22	58				
AKR1B1	231	broad.mit.edu	37	7	134136493	134136493	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:134136493G>T	ENST00000285930.4	-	2	158	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	27					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TCAGTCACCTGCCCTGGAGGG	0.597																																							uc003vrp.1		NA																	0				ovary(3)	3						c.(79-81)CAG>AAG		aldo-keto reductase family 1, member B1	NADH(DB00157)|Sulindac(DB00605)						45.0	40.0	42.0					7																	134136493		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134136493G>T	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.79C>A	7.37:g.134136493G>T	ENSP00000285930:p.Gln27Lys					AKR1B1_uc003vrq.1_RNA	p.Q27K	NM_001628	NP_001619	P15121	ALDR_HUMAN			2	153	-			27					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.79C>A	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	T	2.591	-0.295131	0.05532	.	.	ENSG00000085662	ENST00000285930	T	0.25250	1.81	5.23	1.79	0.24919	NADP-dependent oxidoreductase domain (3);	0.246896	0.45606	N	0.000348	T	0.10809	0.0264	N	0.12663	0.25	0.28584	N	0.909982	B	0.02656	0.0	B	0.04013	0.001	T	0.35201	-0.9798	10	0.02654	T	1	.	10.3185	0.43751	0.092:0.0:0.6393:0.2687	.	27	P15121	ALDR_HUMAN	K	27	ENSP00000285930:Q27K	ENSP00000285930:Q27K	Q	-	1	0	AKR1B1	133787033	0.071000	0.21146	0.994000	0.49952	0.489000	0.33432	0.303000	0.19210	0.559000	0.29153	0.561000	0.74099	CAG		0.597	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		5	21	1	0	0.000602214	0.000602	0.000715729	5	21				
SVOPL	136306	broad.mit.edu	37	7	138329521	138329521	+	Missense_Mutation	SNP	G	G	T	rs372787460		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:138329521G>T	ENST00000419765.3	-	8	763	c.730C>A	c.(730-732)Cgc>Agc	p.R244S	SVOPL_ENST00000288513.5_Missense_Mutation_p.R92S|SVOPL_ENST00000421622.1_Missense_Mutation_p.R124S|SVOPL_ENST00000436657.1_Missense_Mutation_p.R92S	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	244						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TTGGCAACGCGCTCCAGAGTG	0.587																																							uc011kqh.1		NA																	0					0						c.(730-732)CGC>AGC		SVOP-like isoform 1							66.0	66.0	66.0					7																	138329521		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138329521G>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.730C>A	7.37:g.138329521G>T	ENSP00000405482:p.Arg244Ser					SVOPL_uc003vue.2_Missense_Mutation_p.R92S	p.R244S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			8	730	-			244						Missense_Mutation	SNP	ENST00000419765.3	37	c.730C>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327774	0.10956	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.75821	-0.97;-0.97;-0.97;0.26	5.06	-0.304	0.12788	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.548984	0.19266	N	0.118550	T	0.62073	0.2398	L	0.57536	1.79	0.20764	N	0.999859	B;B	0.10296	0.003;0.003	B;B	0.14578	0.011;0.005	T	0.51663	-0.8677	10	0.45353	T	0.12	-1.2075	1.9124	0.03290	0.1986:0.1061:0.2077:0.4877	.	244;92	Q8N434;Q8N434-2	SVOPL_HUMAN;.	S	92;124;92;244	ENSP00000288513:R92S;ENSP00000412830:R124S;ENSP00000417018:R92S;ENSP00000405482:R244S	ENSP00000288513:R92S	R	-	1	0	SVOPL	137980061	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	-0.308000	0.08156	-0.418000	0.07450	-1.175000	0.01729	CGC		0.587	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		16	73	1	0	2.23348e-06	0.004007	3.05455e-06	16	73				
PARP12	64761	broad.mit.edu	37	7	139756937	139756937	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:139756937T>A	ENST00000263549.3	-	3	1352	c.479A>T	c.(478-480)aAc>aTc	p.N160I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	160						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTCCTTTGTTGTAATGTTG	0.493																																							uc003vvl.1		NA																	0				ovary(3)	3						c.(478-480)AAC>ATC		poly ADP-ribose polymerase 12							87.0	95.0	92.0					7																	139756937		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139756937T>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.479A>T	7.37:g.139756937T>A	ENSP00000263549:p.Asn160Ile					PARP12_uc003vvk.1_5'UTR|PARP12_uc010lnf.1_RNA	p.N160I	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			3	1353	-	Melanoma(164;0.0142)		160			C3H1-type 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.479A>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405479	0.83230	.	.	ENSG00000059378	ENST00000263549	T	0.10288	2.89	5.44	5.44	0.79542	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.78456	2.415	0.54753	D	0.999983	D	0.89917	1.0	D	0.80764	0.994	T	0.14062	-1.0486	10	0.87932	D	0	.	15.5046	0.75728	0.0:0.0:0.0:1.0	.	160	Q9H0J9	PAR12_HUMAN	I	160	ENSP00000263549:N160I	ENSP00000263549:N160I	N	-	2	0	PARP12	139403406	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.288000	0.78691	2.073000	0.62155	0.445000	0.29226	AAC		0.493	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		33	97	0	0	0	0.002096	0	33	97				
PRSS1	5644	broad.mit.edu	37	7	142459706	142459706	+	Missense_Mutation	SNP	C	C	G	rs545007137	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:142459706C>G	ENST00000311737.7	+	3	288	c.282C>G	c.(280-282)atC>atG	p.I94M	PRSS1_ENST00000486171.1_Missense_Mutation_p.I108M	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	94	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCAAGATCATCCGCCACCCCC	0.542																																							uc003wak.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(280-282)ATC>ATG		protease, serine, 1 preproprotein							234.0	217.0	223.0					7																	142459706		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459706C>G	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.282C>G	7.37:g.142459706C>G	ENSP00000308720:p.Ile94Met					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.I34M	p.I94M	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	299	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	94			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.282C>G	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892453	0.33442	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.90324	-2.65;-2.65;-2.65	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.044100	0.85682	D	0.000000	D	0.94778	0.8314	M	0.87269	2.87	0.52099	D	0.999941	D;D	0.76494	0.999;0.999	D;D	0.77557	0.983;0.99	D	0.94608	0.7802	10	0.87932	D	0	.	9.1627	0.37032	0.0:0.8819:0.0:0.1181	.	108;94	E7EQ64;P07477	.;TRY1_HUMAN	M	108;94;84;44	ENSP00000417854:I108M;ENSP00000308720:I94M;ENSP00000419912:I44M	ENSP00000308720:I94M	I	+	3	3	PRSS1	142139280	0.999000	0.42202	0.930000	0.37139	0.065000	0.16274	2.435000	0.44811	1.789000	0.52484	0.398000	0.26397	ATC		0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			32	110	0	0	0	0.003271	0	32	110				
TAS2R41	259287	broad.mit.edu	37	7	143175208	143175208	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:143175208C>A	ENST00000408916.1	+	1	243	c.243C>A	c.(241-243)ggC>ggA	p.G81G	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGGGTCTCGGCCGACAGTTCT	0.537																																							uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(241-243)GGC>GGA		taste receptor, type 2, member 41							105.0	106.0	106.0					7																	143175208		2003	4162	6165	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175208C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.243C>A	7.37:g.143175208C>A						uc003wda.2_Intron	p.G81G	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	243	+	Melanoma(164;0.15)		81			Extracellular (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.243C>A	CCDS43663.1																																																																																				0.537	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			27	91	1	0	1.17739e-12	0.005443	2.00665e-12	27	91				
ARHGEF35	445328	broad.mit.edu	37	7	143973470	143973470	+	Intron	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:143973470C>A	ENST00000543357.1	-	1	20				OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA			A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35											kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						AATCTTCTGGCTCAGGTAGAT	0.542																																							uc003wef.2		NA																	0				ovary(1)	1						c.(271-273)AGC>ATC		SubName: Full=LOC728377 protein; Flags: Fragment;																																				SO:0001627	intron_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143973470C>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000543357.1:c.11+17740G>T	7.37:g.143973470C>A						OR2A9P_uc003wec.1_Intron	p.S91I			Q96R45	OR2A7_HUMAN			4	423	-	Melanoma(164;0.14)		Error:Variant_position_missing_in_Q96R45_after_alignment					Q6ZUI2	Missense_Mutation	SNP	ENST00000543357.1	37	c.272G>T	CCDS34770.1																																																																																				0.542	ARHGEF35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		8	202	1	0	3.07112e-06	0.000978	4.16617e-06	8	202				
ARHGEF35	445328	broad.mit.edu	37	7	143973472	143973472	+	Intron	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:143973472C>A	ENST00000543357.1	-	1	20				OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA			A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35											kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTTCTGGCTCAGGTAGATTA	0.537																																							uc003wef.2		NA																	0				ovary(1)	1						c.(268-270)CTG>CTT		SubName: Full=LOC728377 protein; Flags: Fragment;																																				SO:0001627	intron_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143973472C>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000543357.1:c.11+17738G>T	7.37:g.143973472C>A						OR2A9P_uc003wec.1_Intron	p.L90L			Q96R45	OR2A7_HUMAN			4	421	-	Melanoma(164;0.14)		Error:Variant_position_missing_in_Q96R45_after_alignment					Q6ZUI2	Silent	SNP	ENST00000543357.1	37	c.270G>T	CCDS34770.1																																																																																				0.537	ARHGEF35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		10	205	1	0	5.50884e-06	0.001368	7.37624e-06	10	205				
TPK1	27010	broad.mit.edu	37	7	144245632	144245632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:144245632C>A	ENST00000360057.3	-	8	667	c.565G>T	c.(565-567)Gga>Tga	p.G189*	TPK1_ENST00000549981.1_Nonsense_Mutation_p.G72*|TPK1_ENST00000378099.3_Nonsense_Mutation_p.G140*|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Nonsense_Mutation_p.G135*	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	189					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAAGGCTGTCCAACAGGAATA	0.418																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(565-567)GGA>TGA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						198.0	166.0	177.0					7																	144245632		2203	4300	6503	SO:0001587	stop_gained	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245632C>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.565G>T	7.37:g.144245632C>A	ENSP00000353165:p.Gly189*					TPK1_uc003weo.2_Nonsense_Mutation_p.G135*|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Nonsense_Mutation_p.G140*|TPK1_uc003wes.2_RNA	p.G189*	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	668	-			189					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Nonsense_Mutation	SNP	ENST00000360057.3	37	c.565G>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995370	0.93167	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.4306	15.8749	0.79154	0.0:1.0:0.0:0.0	.	.	.	.	X	189;135;140;72	.	ENSP00000353165:G189X	G	-	1	0	TPK1	143876565	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	5.315000	0.65810	2.817000	0.96982	0.563000	0.77884	GGA		0.418	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		15	88	1	0	2.35188e-11	0.006122	3.89948e-11	15	88				
CUL1	8454	broad.mit.edu	37	7	148427288	148427288	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:148427288G>T	ENST00000325222.4	+	2	353	c.74G>T	c.(73-75)aGa>aTa	p.R25I	AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000602748.1_Missense_Mutation_p.R25I|CUL1_ENST00000409469.1_Missense_Mutation_p.R25I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GACGACCTCAGAGCCGGCATC	0.567																																							uc010lpg.2		NA																	0				lung(1)	1						c.(73-75)AGA>ATA		cullin 1							105.0	92.0	96.0					7																	148427288		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427288G>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.74G>T	7.37:g.148427288G>T	ENSP00000326804:p.Arg25Ile					CUL1_uc003wey.2_Missense_Mutation_p.R25I|CUL1_uc003wez.2_5'UTR	p.R25I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	600	+	Melanoma(164;0.15)		25					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.74G>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300940	0.81136	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.32272	1.46;1.46	5.79	5.79	0.91817	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.58810	1.83	0.80722	D	1	B	0.26602	0.154	B	0.27170	0.077	T	0.15549	-1.0433	10	0.66056	D	0.02	-28.0658	20.0155	0.97477	0.0:0.0:1.0:0.0	.	25	Q13616	CUL1_HUMAN	I	25	ENSP00000387160:R25I;ENSP00000326804:R25I	ENSP00000326804:R25I	R	+	2	0	CUL1	148058221	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	7.716000	0.84723	2.742000	0.94016	0.591000	0.81541	AGA		0.567	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		13	67	1	0	6.81908e-15	0.00245	1.21944e-14	13	67				
CUL1	8454	broad.mit.edu	37	7	148486887	148486887	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:148486887A>C	ENST00000325222.4	+	15	1922	c.1643A>C	c.(1642-1644)cAg>cCg	p.Q548P	CUL1_ENST00000602748.1_Missense_Mutation_p.Q548P|CUL1_ENST00000409469.1_Missense_Mutation_p.Q548P	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	548					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGGCCCTTCCAGCAGTCTTGT	0.517																																							uc010lpg.2		NA																	0				lung(1)	1						c.(1642-1644)CAG>CCG		cullin 1							161.0	159.0	160.0					7																	148486887		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148486887A>C	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1643A>C	7.37:g.148486887A>C	ENSP00000326804:p.Gln548Pro					CUL1_uc003wey.2_Missense_Mutation_p.Q548P|CUL1_uc003wez.2_Missense_Mutation_p.Q438P|CUL1_uc003wfa.2_Missense_Mutation_p.Q209P	p.Q548P	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		15	2169	+	Melanoma(164;0.15)		548					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1643A>C	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475395	0.84640	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74526	-0.85;-0.85	5.08	5.08	0.68730	Cullin, N-terminal (1);Cullin homology (3);	0.060318	0.64402	D	0.000002	T	0.81356	0.4805	M	0.81802	2.56	0.80722	D	1	P;P	0.49185	0.737;0.92	P;P	0.50825	0.502;0.651	T	0.82464	-0.0444	10	0.40728	T	0.16	-13.9361	14.8574	0.70347	1.0:0.0:0.0:0.0	.	475;548	E7EWR0;Q13616	.;CUL1_HUMAN	P	548;548;506;475	ENSP00000387160:Q548P;ENSP00000326804:Q548P	ENSP00000326804:Q548P	Q	+	2	0	CUL1	148117820	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.777000	0.91781	1.912000	0.55364	0.482000	0.46254	CAG		0.517	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		41	130	0	0	0	0.00361	0	41	130				
KMT2C	58508	broad.mit.edu	37	7	151871221	151871221	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:151871221C>G	ENST00000262189.6	-	39	9587	c.9369G>C	c.(9367-9369)atG>atC	p.M3123I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M3123I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3123	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTACCTGCTCATCACCATTG	0.393																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(9367-9369)ATG>ATC		myeloid/lymphoid or mixed-lineage leukemia 3							126.0	123.0	124.0					7																	151871221		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151871221C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9369G>C	7.37:g.151871221C>G	ENSP00000262189:p.Met3123Ile					MLL3_uc003wkz.2_Missense_Mutation_p.M2184I|MLL3_uc003wky.2_Missense_Mutation_p.M632I	p.M3123I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	39	9588	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3123			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9369G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.832360|2.832360	0.50845|0.50845	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83837	.|-1.76;-1.77	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.78162|0.78162	0.4240|0.4240	L|L	0.43646|0.43646	1.37|1.37	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.29115	.|0.233;0.071;0.018	.|B;B;B	.|0.34779	.|0.189;0.14;0.016	T|T	0.73129|0.73129	-0.4080|-0.4080	5|10	.|0.21014	.|T	.|0.42	.|.	13.4105|13.4105	0.60940|0.60940	0.1571:0.8429:0.0:0.0|0.1571:0.8429:0.0:0.0	.|.	.|3123;2184;3123	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	Q|I	629|3123	.|ENSP00000262189:M3123I;ENSP00000347325:M3123I	.|ENSP00000262189:M3123I	E|M	-|-	1|3	0|0	MLL3|MLL3	151502154|151502154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.593000|3.593000	0.54001|0.54001	2.412000|2.412000	0.81896|0.81896	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			3	74	0	0	0	0.004672	0	3	74				
KMT2C	58508	broad.mit.edu	37	7	151879291	151879291	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:151879291C>A	ENST00000262189.6	-	36	5872	c.5654G>T	c.(5653-5655)gGg>gTg	p.G1885V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G1885V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1885	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTAGAGGACCCAGGTGAAAA	0.532																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5653-5655)GGG>GTG		myeloid/lymphoid or mixed-lineage leukemia 3							85.0	89.0	88.0					7																	151879291		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879291C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5654G>T	7.37:g.151879291C>A	ENSP00000262189:p.Gly1885Val					MLL3_uc003wkz.2_Missense_Mutation_p.G946V	p.G1885V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	5873	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1885			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5654G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848859	0.32699	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.54866	0.55;0.55	5.18	5.18	0.71444	.	0.000000	0.42294	U	0.000727	T	0.63954	0.2555	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.66779	-0.5837	10	0.62326	D	0.03	.	17.6594	0.88188	0.0:1.0:0.0:0.0	.	1885;946	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1885	ENSP00000262189:G1885V;ENSP00000347325:G1885V	ENSP00000262189:G1885V	G	-	2	0	MLL3	151510224	0.995000	0.38212	0.777000	0.31699	0.526000	0.34562	3.548000	0.53670	2.403000	0.81681	0.563000	0.77884	GGG		0.532	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	95	1	0	2.37509e-13	0.001523	4.13716e-13	21	95				
VIPR2	7434	broad.mit.edu	37	7	158835763	158835763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:158835763G>T	ENST00000262178.2	-	6	745	c.560C>A	c.(559-561)tCt>tAt	p.S187Y	VIPR2_ENST00000377633.3_Missense_Mutation_p.S171Y|VIPR2_ENST00000402066.1_Missense_Mutation_p.S328Y	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	187					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.S187Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CAACGTGCCAGAGCTGGAGTA	0.557																																					Pancreas(154;1876 1931 2329 17914 20079)	Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NA																	2	Substitution - Missense(2)	p.S187Y(1)	lung(2)	lung(1)|central_nervous_system(1)	2						c.(559-561)TCT>TAT		vasoactive intestinal peptide receptor 2							147.0	112.0	124.0					7																	158835763		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158835763G>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.560C>A	7.37:g.158835763G>T	ENSP00000262178:p.Ser187Tyr					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.S187Y	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	6	746	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	187			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.560C>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867480	0.32977	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.45126	D	0.000397	T	0.42494	0.1205	N	0.20845	0.615	0.58432	D	0.999998	D	0.63880	0.993	D	0.64321	0.924	T	0.20874	-1.0262	9	.	.	.	.	16.3544	0.83230	0.0:0.0:1.0:0.0	.	187	P41587	VIPR2_HUMAN	Y	187;171;328	ENSP00000262178:S187Y;ENSP00000366860:S171Y;ENSP00000384497:S328Y	.	S	-	2	0	VIPR2	158528524	1.000000	0.71417	0.740000	0.30986	0.051000	0.14879	5.218000	0.65257	2.528000	0.85240	0.655000	0.94253	TCT		0.557	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		6	31	1	0	1.26484e-09	0.00308	1.98445e-09	6	31				
RP1L1	94137	broad.mit.edu	37	8	10468763	10468763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:10468763G>T	ENST00000382483.3	-	4	3068	c.2845C>A	c.(2845-2847)Ccc>Acc	p.P949T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	949					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)		GACGAGCGGGGCAGAGAGCTG	0.642																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2845-2847)CCC>ACC		retinitis pigmentosa 1-like 1							41.0	49.0	46.0					8																	10468763		2021	4171	6192	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468763G>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.2845C>A	8.37:g.10468763G>T	ENSP00000371923:p.Pro949Thr						p.P949T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3074	-			949					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2845C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818597	0.50633	.	.	ENSG00000183638	ENST00000382483	T	0.76448	-1.02	4.73	4.73	0.59995	.	0.000000	0.34628	N	0.003817	T	0.82204	0.4986	L	0.32530	0.975	0.45704	D	0.998618	D	0.89917	1.0	D	0.91635	0.999	D	0.84336	0.0524	10	0.87932	D	0	-24.7821	14.9928	0.71401	0.0:0.0:1.0:0.0	.	949	A6NKC6	.	T	949	ENSP00000371923:P949T	ENSP00000371923:P949T	P	-	1	0	RP1L1	10506173	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	6.864000	0.75494	2.441000	0.82636	0.462000	0.41574	CCC		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	43	1	0	5.4927e-09	0.004482	8.40171e-09	7	43				
MSR1	4481	broad.mit.edu	37	8	16032707	16032707	+	Missense_Mutation	SNP	C	C	A	rs184089102		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:16032707C>A	ENST00000262101.5	-	3	327	c.206G>T	c.(205-207)gGa>gTa	p.G69V	MSR1_ENST00000445506.2_Missense_Mutation_p.G87V|MSR1_ENST00000381998.4_Missense_Mutation_p.G69V|MSR1_ENST00000350896.3_Missense_Mutation_p.G69V|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.G69V			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	69					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGCCACTATTCCAATGAGAGG	0.418																																							uc003wwz.2		NA																	0				ovary(1)	1						c.(205-207)GGA>GTA		macrophage scavenger receptor 1 isoform type 1							120.0	113.0	116.0					8																	16032707		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16032707C>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.206G>T	8.37:g.16032707C>A	ENSP00000262101:p.Gly69Val					MSR1_uc010lsu.2_Missense_Mutation_p.G87V|MSR1_uc003wxa.2_Missense_Mutation_p.G69V|MSR1_uc003wxb.2_Missense_Mutation_p.G69V|MSR1_uc011kxz.1_Intron	p.G69V	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	3	404	-			69			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.206G>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066052	0.55539	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.91521	-2.47;-2.17;-2.19;-2.47;-2.86	5.34	3.5	0.40072	Macrophage scavenger receptor (1);	0.112915	0.39909	N	0.001232	D	0.93354	0.7881	M	0.71581	2.175	0.46396	D	0.999029	D;D;D;P	0.58620	0.972;0.983;0.97;0.949	P;P;P;P	0.60886	0.669;0.88;0.758;0.762	D	0.92846	0.6293	10	0.62326	D	0.03	.	12.3574	0.55184	0.0:0.64:0.36:0.0	.	87;69;69;69	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	V	69;69;87;69;69	ENSP00000262100:G69V;ENSP00000262101:G69V;ENSP00000405453:G87V;ENSP00000347430:G69V;ENSP00000371428:G69V	ENSP00000262101:G69V	G	-	2	0	MSR1	16077078	0.029000	0.19370	0.295000	0.24960	0.860000	0.49131	1.484000	0.35508	0.702000	0.31825	-0.181000	0.13052	GGA		0.418	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			8	27	1	0	1.12685e-05	0.004482	1.48953e-05	8	27				
RAB11FIP1	80223	broad.mit.edu	37	8	37729733	37729733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:37729733C>A	ENST00000330843.4	-	4	2599	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	863					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GATTCCCTTTCTGAGTCCTCT	0.627																																							uc003xkm.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2587-2589)GAA>TAA		RAB11 family interacting protein 1 isoform 3							39.0	42.0	41.0					8																	37729733		2203	4300	6503	SO:0001587	stop_gained	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729733C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2587G>T	8.37:g.37729733C>A	ENSP00000331342:p.Glu863*					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Nonsense_Mutation_p.E192*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.E192*|RAB11FIP1_uc003xkp.1_Intron	p.E863*	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2631	-		Lung NSC(58;0.118)|all_lung(54;0.195)	863					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	ENST00000330843.4	37	c.2587G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375127	0.97515	.	.	ENSG00000156675	ENST00000330843	.	.	.	4.98	4.1	0.47936	.	0.845057	0.10016	N	0.726645	.	.	.	.	.	.	0.23150	N	0.998214	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-7.0243	8.3207	0.32128	0.0:0.8942:0.0:0.1058	.	.	.	.	X	863	.	ENSP00000331342:E863X	E	-	1	0	RAB11FIP1	37848891	0.004000	0.15560	0.019000	0.16419	0.007000	0.05969	1.033000	0.30191	2.304000	0.77564	0.655000	0.94253	GAA		0.627	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		15	66	1	0	2.32078e-09	0.003163	3.60742e-09	15	66				
IKBKB	3551	broad.mit.edu	37	8	42179669	42179669	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:42179669C>G	ENST00000520810.1	+	18	2022	c.1836C>G	c.(1834-1836)ctC>ctG	p.L612L	IKBKB_ENST00000379708.3_Silent_p.L389L|IKBKB_ENST00000520835.1_Silent_p.L610L|IKBKB_ENST00000416505.2_Silent_p.L553L|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	612					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATACGCAGCTCAGGTATGAGC	0.547																																							uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1834-1836)CTC>CTG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						74.0	76.0	76.0					8																	42179669		2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179669C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1836C>G	8.37:g.42179669C>G						IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.L389L|IKBKB_uc003xox.1_Silent_p.L333L|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.L610L|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.L553L	p.L612L	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		18	2013	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	612					B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.1836C>G	CCDS6128.1																																																																																				0.547	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			7	52	0	0	0	0.001984	0	7	52				
CHRNB3	1142	broad.mit.edu	37	8	42591710	42591711	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:42591710_42591711GG>TT	ENST00000289957.2	+	6	1454_1455	c.1326_1327GG>TT	c.(1324-1329)tcGGtt>tcTTtt	p.V443F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	443					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TAACAGGCTCGGTTCTGATTTT	0.396																																							uc003xpi.1		NA																	0				ovary(1)	1						c.(1324-1329)TCGGTT>TCTTTT		cholinergic receptor, nicotinic, beta																																				SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42591710_42591711GG>TT	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	Exception_encountered	8.37:g.42591710_42591711delinsTT	ENSP00000289957:p.Val443Phe						p.V443F	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1454_1455	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	443			Helical; (Potential).		Q15827	Missense_Mutation	DNP	ENST00000289957.2	37	c.1326_1327GG>TT	CCDS6134.1																																																																																				0.396	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			37	111	0	0	0	0.004672	0	37	111				
ST18	9705	broad.mit.edu	37	8	53084452	53084452	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:53084452G>T	ENST00000276480.7	-	10	1652	c.969C>A	c.(967-969)acC>acA	p.T323T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	323					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTCTTTGTAGGTGTTATGGA	0.483																																							uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(967-969)ACC>ACA		suppression of tumorigenicity 18							116.0	108.0	111.0					8																	53084452		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084452G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.969C>A	8.37:g.53084452G>T						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.T288T|ST18_uc011lds.1_Silent_p.T228T|ST18_uc003xra.2_Silent_p.T323T|ST18_uc003xrb.2_Silent_p.T323T	p.T323T	NM_014682	NP_055497	O60284	ST18_HUMAN			5	1125	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	323					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.969C>A	CCDS6149.1																																																																																				0.483	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			19	66	1	0	2.4624e-09	0.001216	3.82312e-09	19	66				
RGS20	8601	broad.mit.edu	37	8	54764607	54764607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:54764607G>T	ENST00000297313.3	+	1	240	c.148G>T	c.(148-150)Gct>Tct	p.A50S	RGS20_ENST00000344277.6_Missense_Mutation_p.A50S	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	50					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A50S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGACCTCAGGGCTGTTCCTGA	0.433																																							uc003xrp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)GCT>TCT		regulator of G-protein signaling 20 isoform a							100.0	101.0	100.0					8																	54764607		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54764607G>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.148G>T	8.37:g.54764607G>T	ENSP00000297313:p.Ala50Ser					RGS20_uc003xrq.2_Missense_Mutation_p.A50S|RGS20_uc010lye.2_Silent_p.G6G|RGS20_uc010lyf.2_Silent_p.G6G	p.A50S	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		1	240	+			50					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.148G>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850653	0.32699	.	.	ENSG00000147509	ENST00000297313;ENST00000344277	T;T	0.55234	0.64;0.53	5.11	4.23	0.50019	.	.	.	.	.	T	0.46639	0.1403	L	0.48642	1.525	0.22156	N	0.999324	B;P	0.34522	0.288;0.455	B;B	0.35413	0.202;0.081	T	0.46317	-0.9200	9	0.87932	D	0	.	9.5395	0.39242	0.095:0.0:0.905:0.0	.	50;50	O76081-2;O76081	.;RGS20_HUMAN	S	50	ENSP00000297313:A50S;ENSP00000344630:A50S	ENSP00000297313:A50S	A	+	1	0	RGS20	54927160	0.014000	0.17966	0.008000	0.14137	0.043000	0.13939	2.052000	0.41316	1.518000	0.48934	0.655000	0.94253	GCT		0.433	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			15	28	1	0	6.72482e-11	0.003163	1.09472e-10	15	28				
NSMAF	8439	broad.mit.edu	37	8	59515919	59515919	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:59515919C>T	ENST00000038176.3	-	13	1107	c.895G>A	c.(895-897)Gag>Aag	p.E299K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E330K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	299	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGTAGCTCTCAGCAGTGTGC	0.557																																							uc003xtt.2		NA																	0				ovary(1)	1						c.(895-897)GAG>AAG		neutral sphingomyelinase (N-SMase) activation							123.0	97.0	106.0					8																	59515919		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59515919C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.895G>A	8.37:g.59515919C>T	ENSP00000038176:p.Glu299Lys					NSMAF_uc011lee.1_Missense_Mutation_p.E330K|NSMAF_uc003xtu.2_Missense_Mutation_p.E299K	p.E299K	NM_003580	NP_003571	Q92636	FAN_HUMAN			13	1109	-		all_lung(136;0.174)|Lung NSC(129;0.2)	299			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.895G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818295	0.96982	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.62788	-0.0;-0.0	5.82	5.82	0.92795	BEACH domain (3);	0.044446	0.85682	D	0.000000	T	0.65883	0.2734	L	0.35593	1.075	0.58432	D	0.999998	D;B;B	0.56746	0.977;0.209;0.102	P;B;B	0.54140	0.743;0.045;0.045	T	0.61446	-0.7061	9	.	.	.	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	330;299;299	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	K	299;330	ENSP00000038176:E299K;ENSP00000411012:E330K	.	E	-	1	0	NSMAF	59678473	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.767000	0.95098	0.655000	0.94253	GAG		0.557	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		15	43	0	0	0	0.00245	0	15	43				
NCOA2	10499	broad.mit.edu	37	8	71068584	71068584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:71068584C>A	ENST00000452400.2	-	11	2197	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	672					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCAGGCAAGCTACCTG	0.517			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(2014-2016)TTG>TTT		nuclear receptor coactivator 2							105.0	102.0	103.0					8																	71068584		1951	4138	6089	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068584C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2016G>T	8.37:g.71068584C>A	ENSP00000399968:p.Leu672Phe						p.L672F	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2178	-	Breast(64;0.201)		672					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2016G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	9.276	1.046798	0.19748	.	.	ENSG00000140396	ENST00000452400	T	0.43294	0.95	5.77	4.9	0.64082	Steroid receptor coactivator (1);	0.420900	0.26546	N	0.023774	T	0.26955	0.0660	N	0.22421	0.69	0.80722	D	1	B	0.15930	0.015	B	0.18561	0.022	T	0.06409	-1.0828	10	0.09843	T	0.71	.	11.736	0.51765	0.0:0.8588:0.0:0.1412	.	672	Q15596	NCOA2_HUMAN	F	672	ENSP00000399968:L672F	ENSP00000399968:L672F	L	-	3	2	NCOA2	71231138	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.928000	0.28831	1.444000	0.47605	0.655000	0.94253	TTG		0.517	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			62	71	1	0	1.72039e-30	0.00361	3.41787e-30	62	71				
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:73480145C>A	ENST00000523207.1	+	2	764	c.176C>A	c.(175-177)aCg>aAg	p.T59K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(175-177)ACG>AAG		potassium voltage-gated channel, Shab-related							66.0	68.0	67.0					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>A	8.37:g.73480145C>A	ENSP00000430846:p.Thr59Lys						p.T59K	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299194	0.95574	.	.	ENSG00000182674	ENST00000523207	D	0.81908	-1.55	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.95033	0.8392	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96428	0.9317	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	K	59	ENSP00000430846:T59K	ENSP00000430846:T59K	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		30	82	1	0	5.6714e-07	0.002096	7.96725e-07	30	82				
STAU2	27067	broad.mit.edu	37	8	74515961	74515961	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:74515961C>A	ENST00000521451.1	-	5	745	c.369G>T	c.(367-369)caG>caT	p.Q123H	STAU2_ENST00000519961.1_Splice_Site_p.Q343H|STAU2_ENST00000524300.1_Splice_Site_p.Q343H|STAU2_ENST00000355780.5_Splice_Site_p.Q311H|STAU2_ENST00000522509.1_Splice_Site_p.Q311H|STAU2_ENST00000521210.1_Splice_Site_p.Q239H|STAU2_ENST00000521727.1_Splice_Site_p.Q323H|STAU2_ENST00000523558.1_Splice_Site_p.Q171H|STAU2_ENST00000522695.1_Splice_Site_p.Q311H|STAU2_ENST00000517542.1_Splice_Site_p.Q305H			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	343	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTAGAAATACCTGCATCACAA	0.423																																							uc003xzm.2		NA																	0					0						c.(1027-1029)CAG>CAT		staufen homolog 2 isoform e							69.0	69.0	69.0					8																	74515961		2203	4300	6503	SO:0001630	splice_region_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74515961C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.369+1G>T	8.37:g.74515961C>A						STAU2_uc011lfg.1_Missense_Mutation_p.Q171H|STAU2_uc003xzn.2_Missense_Mutation_p.Q311H|STAU2_uc011lfh.1_Missense_Mutation_p.Q239H|STAU2_uc003xzo.2_Missense_Mutation_p.Q343H|STAU2_uc003xzp.2_Missense_Mutation_p.Q311H|STAU2_uc011lfi.1_Missense_Mutation_p.Q305H|STAU2_uc003xzq.2_Missense_Mutation_p.Q123H|STAU2_uc010lzk.2_Missense_Mutation_p.Q311H|STAU2_uc010lzl.1_Missense_Mutation_p.Q171H	p.Q343H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		10	1265	-	Breast(64;0.0138)		343			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.1029G>T		.	.	.	.	.	.	.	.	.	.	C	24.1	4.493140	0.84962	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.996;0.998;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997;0.995;0.996;0.998	D	0.88125	0.2834	9	.	.	.	-12.2403	14.7595	0.69596	0.0:0.9303:0.0:0.0697	.	323;239;171;239;311;343;311;343	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	H	311;343;171;239;311;343;323;123;311;305;171	ENSP00000428456:Q311H;ENSP00000428756:Q343H;ENSP00000428741:Q171H;ENSP00000429173:Q239H;ENSP00000348026:Q311H;ENSP00000430907:Q343H;ENSP00000429973:Q323H;ENSP00000428476:Q123H;ENSP00000427977:Q311H;ENSP00000431111:Q305H;ENSP00000429005:Q171H	.	Q	-	3	2	STAU2	74678515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.596000	0.67570	1.432000	0.47375	0.585000	0.79938	CAG		0.423	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380	Missense_Mutation	17	27	1	0	9.7654e-05	0.007413	0.000121435	17	27				
REXO1L1P	254958	broad.mit.edu	37	8	86567355	86567355	+	IGR	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:86567355G>T	ENST00000379010.2	-	0	7032					NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						CAGGCCATGCGTGGTGTAGCA	0.567																																							uc003ydl.1		NA																	0					NA						c.(463-465)ACG>AAG		exonuclease GOR																																				SO:0001628	intergenic_variant	0							g.chr8:86567355G>T																													8.37:g.86567355G>T							p.T155K	NM_172239	NP_758439					1	551	-									Missense_Mutation	SNP	ENST00000379010.2	37	c.464C>A																																																																																					0.567	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			13	138	1	0	0.00010058	0.001368	0.000124382	13	138				
DCAF4L2	138009	broad.mit.edu	37	8	88885094	88885094	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:88885094G>T	ENST00000319675.3	-	1	1202	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	369										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGGCGAGAAGAGAAGGCCAC	0.587																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(1105-1107)TCT>TAT		WD repeat domain 21C							65.0	73.0	70.0					8																	88885094		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885094G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1106C>A	8.37:g.88885094G>T	ENSP00000316496:p.Ser369Tyr						p.S369Y	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1203	-			369						Missense_Mutation	SNP	ENST00000319675.3	37	c.1106C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025932	0.54683	.	.	ENSG00000176566	ENST00000319675	T	0.20069	2.1	1.37	1.37	0.22104	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	M	0.77616	2.38	0.42468	D	0.992813	D	0.76494	0.999	D	0.70227	0.968	T	0.21690	-1.0238	10	0.44086	T	0.13	.	8.2535	0.31741	0.0:0.0:1.0:0.0	.	369	Q8NA75	DC4L2_HUMAN	Y	369	ENSP00000316496:S369Y	ENSP00000316496:S369Y	S	-	2	0	DCAF4L2	88954210	1.000000	0.71417	0.598000	0.28837	0.721000	0.41392	6.093000	0.71422	0.735000	0.32537	0.467000	0.42956	TCT		0.587	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		13	53	1	0	1.36491e-13	0.001855	2.38371e-13	13	53				
DCAF4L2	138009	broad.mit.edu	37	8	88885822	88885822	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:88885822C>T	ENST00000319675.3	-	1	474	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	126										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGAATTCACCTTCCGATTAG	0.562																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(376-378)AAG>AAA		WD repeat domain 21C							116.0	110.0	112.0					8																	88885822		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885822C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.378G>A	8.37:g.88885822C>T							p.K126K	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	475	-			126						Silent	SNP	ENST00000319675.3	37	c.378G>A	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		25	61	0	0	0	0.003954	0	25	61				
NECAB1	64168	broad.mit.edu	37	8	91929850	91929850	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:91929850A>G	ENST00000417640.2	+	6	825	c.488A>G	c.(487-489)cAa>cGa	p.Q163R		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	163						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CAAACCCGTCAAGAAAGGCAA	0.378																																							uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(487-489)CAA>CGA		N-terminal EF-hand calcium binding protein 1							109.0	107.0	108.0					8																	91929850		1854	4098	5952	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929850A>G	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.488A>G	8.37:g.91929850A>G	ENSP00000387380:p.Gln163Arg						p.Q163R	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	682	+			163			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.488A>G	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749385	0.30955	.	.	ENSG00000123119	ENST00000417640	T	0.18960	2.18	5.05	5.05	0.67936	.	0.112905	0.64402	D	0.000011	T	0.16514	0.0397	L	0.45581	1.43	0.80722	D	1	P	0.37466	0.596	B	0.34722	0.188	T	0.05257	-1.0896	10	0.15066	T	0.55	-2.489	10.093	0.42458	0.8502:0.0:0.0:0.1497	.	163	Q8N987	NECA1_HUMAN	R	163	ENSP00000387380:Q163R	ENSP00000387380:Q163R	Q	+	2	0	NECAB1	91999026	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.336000	0.72954	1.885000	0.54596	0.383000	0.25322	CAA		0.378	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		3	56	0	0	0	0.004672	0	3	56				
CDH17	1015	broad.mit.edu	37	8	95183141	95183141	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95183141T>C	ENST00000027335.3	-	8	980	c.856A>G	c.(856-858)Att>Gtt	p.I286V	CDH17_ENST00000450165.2_Missense_Mutation_p.I286V|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGTCAATTGAAAATGGG	0.463																																							uc003ygh.2		NA																	0				ovary(5)|skin(1)	6						c.(856-858)ATT>GTT		cadherin 17 precursor							140.0	136.0	137.0					8																	95183141		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95183141T>C	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.856A>G	8.37:g.95183141T>C	ENSP00000027335:p.Ile286Val					CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.I286V	p.I286V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		8	981	-	Breast(36;4.65e-06)		286			Extracellular (Potential).|Cadherin 3.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.856A>G	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514194	0.64522	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58506	0.33;0.33	5.95	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000030	T	0.53932	0.1827	L	0.50847	1.595	0.51012	D	0.999904	P	0.49447	0.924	P	0.46543	0.52	T	0.53173	-0.8476	10	0.36615	T	0.2	-26.1674	9.5699	0.39422	0.0:0.0814:0.0:0.9186	.	286	Q12864	CAD17_HUMAN	V	286	ENSP00000027335:I286V;ENSP00000401468:I286V	ENSP00000027335:I286V	I	-	1	0	CDH17	95252317	0.989000	0.36119	1.000000	0.80357	0.979000	0.70002	2.014000	0.40951	2.267000	0.75376	0.528000	0.53228	ATT		0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		25	104	0	0	0	0.005443	0	25	104				
ESRP1	54845	broad.mit.edu	37	8	95690472	95690472	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95690472G>C	ENST00000433389.2	+	13	1883	c.1693G>C	c.(1693-1695)Gtt>Ctt	p.V565L	ESRP1_ENST00000358397.5_Missense_Mutation_p.V561L|ESRP1_ENST00000454170.2_Missense_Mutation_p.V565L|ESRP1_ENST00000423620.2_Missense_Mutation_p.V561L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	565					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCTGCTGCAGTTATTCCTAC	0.498																																							uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1693-1695)GTT>CTT		RNA binding motif protein 35A isoform 1							111.0	108.0	109.0					8																	95690472		1979	4157	6136	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95690472G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1693G>C	8.37:g.95690472G>C	ENSP00000405738:p.Val565Leu					ESRP1_uc003ygr.3_Missense_Mutation_p.V561L|ESRP1_uc003ygs.3_Missense_Mutation_p.V561L|ESRP1_uc003ygt.3_Missense_Mutation_p.V565L|ESRP1_uc003ygu.3_Missense_Mutation_p.V561L|ESRP1_uc003ygv.2_Missense_Mutation_p.V405L|ESRP1_uc003ygw.2_Missense_Mutation_p.V405L	p.V565L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			13	1876	+			565					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1693G>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.70|10.70	1.423642|1.423642	0.25639|0.25639	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.11495	.|2.99;2.95;2.98;2.95;2.77	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.118364	.|0.56097	.|D	.|0.000024	T|T	0.11580|0.11580	0.0282|0.0282	L|L	0.45581|0.45581	1.43|1.43	0.54753|0.54753	D|D	0.999987|0.999987	.|B;B;B;B;B;B	.|0.17667	.|0.023;0.002;0.004;0.006;0.01;0.005	.|B;B;B;B;B;B	.|0.21360	.|0.034;0.017;0.017;0.008;0.03;0.008	T|T	0.10200|0.10200	-1.0640|-1.0640	5|10	.|0.05959	.|T	.|0.93	-18.7059|-18.7059	19.0575|19.0575	0.93072|0.93072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|565;565;565;561;561;565	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	T|L	430|561;565;561;565;424	.|ENSP00000407349:V561L;ENSP00000405738:V565L;ENSP00000351168:V561L;ENSP00000402766:V565L;ENSP00000429125:V424L	.|ENSP00000351168:V561L	S|V	+|+	2|1	0|0	ESRP1|ESRP1	95759648|95759648	1.000000|1.000000	0.71417|0.71417	0.874000|0.874000	0.34290|0.34290	0.939000|0.939000	0.58152|0.58152	3.717000|3.717000	0.54911|0.54911	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	AGT|GTT		0.498	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		21	40	0	0	0	0.002299	0	21	40				
DPY19L4	286148	broad.mit.edu	37	8	95800281	95800281	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95800281G>T	ENST00000414645.2	+	18	2106		c.e18+1			NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAATGGCCACGTAAGTAACCA	0.289																																							uc003ygx.2		NA																	0				ovary(2)	2						c.e18+1		dpy-19-like 4							53.0	54.0	54.0					8																	95800281		2202	4300	6502	SO:0001630	splice_region_variant	286148					integral to membrane		g.chr8:95800281G>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2007+1G>T	8.37:g.95800281G>T							p.H669_splice	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			18	2131	+	Breast(36;3.85e-06)							Q6ZW32|Q6ZW42|Q7Z329	Splice_Site	SNP	ENST00000414645.2	37	c.2007_splice	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829182	0.71258	.	.	ENSG00000156162	ENST00000414645	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4795	0.90806	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPY19L4	95869457	1.000000	0.71417	0.939000	0.37840	0.859000	0.49053	8.919000	0.92770	2.420000	0.82092	0.585000	0.79938	.		0.289	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	Intron	7	51	1	0	5.18039e-06	0.00308	6.99223e-06	7	51				
CPQ	10404	broad.mit.edu	37	8	97978195	97978195	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:97978195G>T	ENST00000220763.5	+	5	1092	c.882G>T	c.(880-882)tgG>tgT	p.W294C		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	294					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TGGACAGCTGGGATGTTGGGC	0.358																																							uc003yhw.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(880-882)TGG>TGT		plasma glutamate carboxypeptidase precursor							97.0	94.0	95.0					8																	97978195		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978195G>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.882G>T	8.37:g.97978195G>T	ENSP00000220763:p.Trp294Cys					PGCP_uc010mbe.2_Missense_Mutation_p.W294C	p.W294C	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			5	1048	+	Breast(36;1.86e-05)		294					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.882G>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344015	0.82022	.	.	ENSG00000104324	ENST00000220763	T	0.48201	0.82	6.07	6.07	0.98685	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83377	0.0010	10	0.72032	D	0.01	-2.7199	17.8153	0.88630	0.0:0.0:1.0:0.0	.	294;294	B5MDX4;Q9Y646	.;PGCP_HUMAN	C	294	ENSP00000220763:W294C	ENSP00000220763:W294C	W	+	3	0	AC010859.1	98047371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.593000	0.98250	2.885000	0.99019	0.655000	0.94253	TGG		0.358	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		8	48	1	0	0.000157383	0.00308	0.000191976	8	48				
MATN2	4147	broad.mit.edu	37	8	98943360	98943360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:98943360G>T	ENST00000520016.1	+	2	446	c.322G>T	c.(322-324)Gag>Tag	p.E108*	MATN2_ENST00000254898.5_Nonsense_Mutation_p.E108*|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Nonsense_Mutation_p.E108*|MATN2_ENST00000521689.1_Nonsense_Mutation_p.E108*			O00339	MATN2_HUMAN	matrilin 2	108	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTCAAGAATGAGTTCTCCCT	0.542																																							uc003yic.2		NA																	0				ovary(2)	2						c.(322-324)GAG>TAG		matrilin 2 isoform a precursor							73.0	77.0	75.0					8																	98943360		2087	4235	6322	SO:0001587	stop_gained	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943360G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.322G>T	8.37:g.98943360G>T	ENSP00000430487:p.Glu108*					MATN2_uc003yib.1_Nonsense_Mutation_p.E108*|MATN2_uc010mbh.1_Nonsense_Mutation_p.E108*|MATN2_uc003yid.2_Nonsense_Mutation_p.E108*|MATN2_uc003yie.1_Nonsense_Mutation_p.E108*|MATN2_uc010mbi.1_5'UTR	p.E108*	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	553	+	Breast(36;1.43e-06)		108			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Nonsense_Mutation	SNP	ENST00000520016.1	37	c.322G>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	41	8.937102	0.99010	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-32.5048	19.7059	0.96071	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000254898:E108X	E	+	1	0	MATN2	99012536	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.807000	0.99171	2.673000	0.90976	0.591000	0.81541	GAG		0.542	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			7	41	1	0	0.00198382	0.001984	0.00231877	7	41				
RGS22	26166	broad.mit.edu	37	8	101065078	101065078	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:101065078G>C	ENST00000360863.6	-	10	1835	c.1641C>G	c.(1639-1641)ctC>ctG	p.L547L	RGS22_ENST00000523437.1_Silent_p.L535L|RGS22_ENST00000523287.1_Silent_p.L366L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	547					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTAATGGCAAGAGGGTTGCCA	0.423																																							uc003yjb.1		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1639-1641)CTC>CTG		regulator of G-protein signaling 22							193.0	193.0	193.0					8																	101065078		1907	4123	6030	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101065078G>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1641C>G	8.37:g.101065078G>C						RGS22_uc003yja.1_Silent_p.L366L|RGS22_uc003yjc.1_Silent_p.L535L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.L547L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		10	1836	-			547					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.1641C>G	CCDS43758.1																																																																																				0.423	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		4	165	0	0	0	0.000602	0	4	165				
UBR5	51366	broad.mit.edu	37	8	103277397	103277397	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:103277397C>G	ENST00000520539.1	-	53	8138	c.7532G>C	c.(7531-7533)aGa>aCa	p.R2511T	UBR5_ENST00000518205.1_Missense_Mutation_p.R239T|UBR5_ENST00000220959.4_Missense_Mutation_p.R2510T|UBR5_ENST00000521922.1_Missense_Mutation_p.R2504T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2511	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATAAAATCCTCTTTTCCCAGG	0.403																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(7531-7533)AGA>ACA		ubiquitin protein ligase E3 component n-recognin							120.0	118.0	119.0					8																	103277397		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103277397C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7532G>C	8.37:g.103277397C>G	ENSP00000429084:p.Arg2511Thr					UBR5_uc003yks.1_Missense_Mutation_p.R2510T|UBR5_uc003ykq.2_Missense_Mutation_p.R22T	p.R2511T	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		53	7565	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2511			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7532G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165794	0.94768	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.26	5.26	0.73747	HECT (4);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.78456	2.415	0.58432	D	0.999995	P;P	0.39060	0.657;0.657	P;P	0.51170	0.661;0.661	T	0.72064	-0.4403	10	0.62326	D	0.03	.	19.2349	0.93855	0.0:1.0:0.0:0.0	.	2504;2511	E7EMW7;O95071	.;UBR5_HUMAN	T	2511;2510;239;2504	ENSP00000429084:R2511T;ENSP00000220959:R2510T;ENSP00000428693:R239T;ENSP00000427819:R2504T	ENSP00000220959:R2510T	R	-	2	0	UBR5	103346573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.599000	0.87857	0.655000	0.94253	AGA		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	99	0	0	0	0.000248	0	4	99				
RIMS2	9699	broad.mit.edu	37	8	104948909	104948909	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:104948909C>A	ENST00000436393.2	+	11	2081	c.1840C>A	c.(1840-1842)Caa>Aaa	p.Q614K	RIMS2_ENST00000507740.1_Missense_Mutation_p.Q628K|RIMS2_ENST00000262231.10_Missense_Mutation_p.Q675K|RIMS2_ENST00000406091.3_Missense_Mutation_p.Q836K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	898					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTTGGGATCAAGCTCGTGT	0.373										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1840-1842)CAA>AAA		regulating synaptic membrane exocytosis 2							150.0	136.0	140.0					8																	104948909		1845	4091	5936	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104948909C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1840C>A	8.37:g.104948909C>A	ENSP00000390665:p.Gln614Lys	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.Q836K|RIMS2_uc003ylw.2_Missense_Mutation_p.Q628K|RIMS2_uc003ylq.2_Missense_Mutation_p.Q628K|RIMS2_uc003ylr.2_Missense_Mutation_p.Q675K|RIMS2_uc003ylt.2_Missense_Mutation_p.Q221K	p.Q614K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		11	2081	+			898			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1840C>A		.	.	.	.	.	.	.	.	.	.	C	25.2	4.609818	0.87258	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.89	4.89	0.63831	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.71813	0.3384	N	0.21373	0.66	0.80722	D	1	D;P;P;P;P;P	0.57571	0.98;0.801;0.85;0.82;0.836;0.886	D;P;D;P;P;P	0.69654	0.952;0.608;0.965;0.52;0.842;0.797	T	0.73987	-0.3809	9	0.46703	T	0.11	.	18.4214	0.90591	0.0:1.0:0.0:0.0	.	898;898;614;675;628;836	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	K	836;851;836;898;628;675;628;628;614	ENSP00000427018:Q836K;ENSP00000384892:Q836K;ENSP00000425205:Q628K;ENSP00000262231:Q675K;ENSP00000423559:Q628K;ENSP00000386228:Q628K;ENSP00000390665:Q614K	ENSP00000262231:Q675K	Q	+	1	0	RIMS2	105018085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.729000	0.84864	2.416000	0.81992	0.467000	0.42956	CAA		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		22	69	1	0	1.96895e-08	0.00278	2.93811e-08	22	69				
DCSTAMP	81501	broad.mit.edu	37	8	105361740	105361740	+	Silent	SNP	C	C	A	rs144377739	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:105361740C>A	ENST00000297581.2	+	2	1009	c.960C>A	c.(958-960)ctC>ctA	p.L320L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	320					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TGTATCGGCTCATTTTCTCAG	0.468																																							uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(958-960)CTC>CTA		dendritic cell-specific transmembrane protein							168.0	171.0	170.0					8																	105361740		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361740C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.960C>A	8.37:g.105361740C>A							p.L320L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	1009	+			320					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.960C>A	CCDS6301.1																																																																																				0.468	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		73	176	1	0	1.54081e-58	0.00361	3.13531e-58	73	176				
ZFPM2	23414	broad.mit.edu	37	8	106813863	106813863	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:106813863C>A	ENST00000407775.2	+	8	1803	c.1553C>A	c.(1552-1554)gCt>gAt	p.A518D	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A386D|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A249D|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A386D|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	518					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGATCTTAGCTAAGATGTCT	0.502																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1552-1554)GCT>GAT		zinc finger protein, multitype 2							107.0	109.0	108.0					8																	106813863		1936	4127	6063	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813863C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1553C>A	8.37:g.106813863C>A	ENSP00000384179:p.Ala518Asp					ZFPM2_uc011lhs.1_Missense_Mutation_p.A249D	p.A518D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1576	+			518					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1553C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548819	0.86127	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.36340	1.26;1.8;1.8;3.0	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56269	-0.8007	10	0.62326	D	0.03	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	518	Q8WW38	FOG2_HUMAN	D	518;386;386;249	ENSP00000384179:A518D;ENSP00000430757:A386D;ENSP00000428720:A386D;ENSP00000367733:A249D	ENSP00000367733:A249D	A	+	2	0	ZFPM2	106883039	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GCT		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			60	132	1	0	5.47352e-35	0.00361	1.09716e-34	60	132				
CSMD3	114788	broad.mit.edu	37	8	113529330	113529330	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113529330C>G	ENST00000297405.5	-	28	4933	c.4689G>C	c.(4687-4689)gaG>gaC	p.E1563D	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TTATTCTTTCCTCTCCTTGAA	0.433										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.(4687-4689)GAG>GAC		CUB and Sushi multiple domains 3 isoform 1							133.0	122.0	126.0					8																	113529330		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529330C>G	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.4689G>C	8.37:g.113529330C>G	ENSP00000297405:p.Glu1563Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E835D|CSMD3_uc003ynt.2_Missense_Mutation_p.E1523D|CSMD3_uc011lhx.1_Missense_Mutation_p.E1459D	p.E1563D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			28	4848	-			1563			Extracellular (Potential).|Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4689G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982375	0.18889	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.88	0.625	0.17665	Complement control module (2);Sushi/SCR/CCP (3);	0.240484	0.33938	N	0.004414	T	0.43875	0.1267	L	0.45137	1.4	0.24160	N	0.995664	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.18967	-1.0320	10	0.14656	T	0.56	.	4.8047	0.13314	0.1911:0.281:0.0:0.528	.	1459;1563;1523	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	1523;1563;903;1459;1563	ENSP00000345799:E1523D;ENSP00000297405:E1563D;ENSP00000341558:E903D;ENSP00000412263:E1459D;ENSP00000343124:E1563D	ENSP00000297405:E1563D	E	-	3	2	CSMD3	113598506	0.014000	0.17966	0.997000	0.53966	0.997000	0.91878	-1.176000	0.03099	-0.079000	0.12707	0.585000	0.79938	GAG		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	70	0	0	0	0.004656	0	24	70				
CSMD3	114788	broad.mit.edu	37	8	113694742	113694742	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113694742C>A	ENST00000297405.5	-	16	2850	c.2606G>T	c.(2605-2607)gGa>gTa	p.G869V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TGTTTCTGTTCCCTGGGTTTT	0.373										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.(2605-2607)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							136.0	132.0	134.0					8																	113694742		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694742C>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.2606G>T	8.37:g.113694742C>A	ENSP00000297405:p.Gly869Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G141V|CSMD3_uc003ynt.2_Missense_Mutation_p.G829V|CSMD3_uc011lhx.1_Missense_Mutation_p.G765V	p.G869V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2765	-			869			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2606G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737204	0.89482	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90256	0.6953	H	0.96996	3.92	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	0.92986	0.6410	10	0.87932	D	0	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	765;869;829	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	829;869;209;765;869	ENSP00000345799:G829V;ENSP00000297405:G869V;ENSP00000341558:G209V;ENSP00000412263:G765V;ENSP00000343124:G869V	ENSP00000297405:G869V	G	-	2	0	CSMD3	113763918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GGA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	63	1	0	5.35267e-07	0.007413	7.53525e-07	20	63				
CSMD3	114788	broad.mit.edu	37	8	113694744	113694744	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113694744C>A	ENST00000297405.5	-	16	2848	c.2604G>T	c.(2602-2604)caG>caT	p.Q868H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q828H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q764H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q868H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	868	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TTTCTGTTCCCTGGGTTTTAA	0.378										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.(2602-2604)CAG>CAT		CUB and Sushi multiple domains 3 isoform 1							134.0	130.0	132.0					8																	113694744		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694744C>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.2604G>T	8.37:g.113694744C>A	ENSP00000297405:p.Gln868His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q140H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q828H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q764H	p.Q868H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2763	-			868			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2604G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848662	0.51164	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.68	-1.06	0.10002	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.68137	0.2968	L	0.59436	1.845	0.29011	N	0.886874	D;D;P	0.76494	0.999;0.999;0.485	D;D;B	0.91635	0.998;0.999;0.398	T	0.64407	-0.6415	10	0.13470	T	0.59	.	11.2307	0.48910	0.0:0.3313:0.0:0.6687	.	764;868;828	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	828;868;208;764;868	ENSP00000345799:Q828H;ENSP00000297405:Q868H;ENSP00000341558:Q208H;ENSP00000412263:Q764H;ENSP00000343124:Q868H	ENSP00000297405:Q868H	Q	-	3	2	CSMD3	113763920	0.981000	0.34729	0.996000	0.52242	0.996000	0.88848	0.182000	0.16900	-0.106000	0.12110	-0.142000	0.14014	CAG		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	67	1	0	1.99824e-07	0.00499	2.86407e-07	18	67				
TRPS1	7227	broad.mit.edu	37	8	116631637	116631637	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:116631637G>C	ENST00000220888.5	-	2	808	c.649C>G	c.(649-651)Cca>Gca	p.P217A	TRPS1_ENST00000519076.1_Missense_Mutation_p.P171A|TRPS1_ENST00000519674.1_Missense_Mutation_p.P217A|TRPS1_ENST00000520276.1_Missense_Mutation_p.P221A|TRPS1_ENST00000395715.3_Missense_Mutation_p.P230A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	217					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAAGCTCTGGAGACAGAGGT	0.453									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(649-651)CCA>GCA		zinc finger transcription factor TRPS1							127.0	128.0	127.0					8																	116631637		1965	4188	6153	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631637G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.649C>G	8.37:g.116631637G>C	ENSP00000220888:p.Pro217Ala					TRPS1_uc011lhy.1_Missense_Mutation_p.P221A|TRPS1_uc003yny.2_Missense_Mutation_p.P230A|TRPS1_uc010mcy.2_Missense_Mutation_p.P217A	p.P217A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1108	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		217					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.649C>G		.	.	.	.	.	.	.	.	.	.	G	19.93	3.918682	0.73098	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.957;0.981	T	0.05037	-1.0910	10	0.87932	D	0	.	19.5324	0.95234	0.0:0.0:1.0:0.0	.	221;217;230	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	A	230;217;171;221;217	ENSP00000379065:P230A;ENSP00000220888:P217A;ENSP00000428910:P171A;ENSP00000428680:P221A;ENSP00000429174:P217A	ENSP00000220888:P217A	P	-	1	0	TRPS1	116700812	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.619000	0.88677	0.460000	0.39030	CCA		0.453	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		5	159	0	0	0	0.000602	0	5	159				
COL14A1	7373	broad.mit.edu	37	8	121357730	121357730	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:121357730G>A	ENST00000297848.3	+	45	5275	c.5005G>A	c.(5005-5007)Ggt>Agt	p.G1669S	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1574S|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1669S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGAGCCCCTGGTGAACAAGG	0.642																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5005-5007)GGT>AGT		collagen, type XIV, alpha 1 precursor							46.0	47.0	47.0					8																	121357730		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121357730G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5005G>A	8.37:g.121357730G>A	ENSP00000297848:p.Gly1669Ser					COL14A1_uc003yoz.2_Missense_Mutation_p.G634S	p.G1669S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		45	5270	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1669			Triple-helical region 2 (COL1).			Missense_Mutation	SNP	ENST00000297848.3	37	c.5005G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482791	0.96307	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98080	1.0403	10	0.87932	D	0	.	17.7738	0.88501	0.0:0.0:1.0:0.0	.	1669	Q05707	COEA1_HUMAN	S	1669;1669;1574;16	ENSP00000311809:G1669S;ENSP00000297848:G1669S;ENSP00000247781:G1574S;ENSP00000403640:G16S	ENSP00000247781:G1574S	G	+	1	0	COL14A1	121426911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.357000	0.90088	2.736000	0.93811	0.555000	0.69702	GGT		0.642	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	39	0	0	0	0.004482	0	8	39				
ATAD2	29028	broad.mit.edu	37	8	124333375	124333375	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124333375C>T	ENST00000287394.5	-	28	4279	c.4172G>A	c.(4171-4173)tGa>tAa	p.*1391*	ATAD2_ENST00000521903.1_Silent_p.*709*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	0					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGACATCATCATCTGGAACA	0.343																																							uc003yqh.3		NA																	0				ovary(2)	2						c.(4171-4173)TGA>TAA		ATPase family, AAA domain containing 2							128.0	122.0	124.0					8																	124333375		2203	4298	6501	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124333375C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4172G>A	8.37:g.124333375C>T						ATAD2_uc011lii.1_Silent_p.*1182*|ATAD2_uc003yqi.3_RNA	p.*1391*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		28	4280	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1391					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.4172G>A	CCDS6343.1																																																																																				0.343	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	84	0	0	0	0.004482	0	7	84				
FAM91A1	157769	broad.mit.edu	37	8	124801879	124801879	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124801879A>T	ENST00000334705.7	+	15	1551	c.1305A>T	c.(1303-1305)gcA>gcT	p.A435A	FAM91A1_ENST00000521166.1_Silent_p.A435A	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	435										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGGAGAAGCACAGAGATATT	0.378																																							uc003yqv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1303-1305)GCA>GCT		hypothetical protein LOC157769							127.0	113.0	117.0					8																	124801879		1878	4108	5986	SO:0001819	synonymous_variant	157769							g.chr8:124801879A>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1305A>T	8.37:g.124801879A>T						FAM91A1_uc011lik.1_Silent_p.A435A|FAM91A1_uc011lil.1_Silent_p.A193A	p.A435A	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		15	1366	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		435					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.1305A>T	CCDS6346.2																																																																																				0.378	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		18	68	0	0	0	0.001523	0	18	68				
FER1L6	654463	broad.mit.edu	37	8	124988193	124988193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124988193G>T	ENST00000522917.1	+	9	945	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L	FER1L6_ENST00000399018.1_Missense_Mutation_p.V247L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	247	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGATTCTATGTGAGACTCTA	0.468																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(739-741)GTG>TTG		fer-1-like 6							200.0	188.0	192.0					8																	124988193		1901	4121	6022	SO:0001583	missense	654463					integral to membrane		g.chr8:124988193G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.739G>T	8.37:g.124988193G>T	ENSP00000428280:p.Val247Leu						p.V247L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		9	945	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		247			C2 2.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.739G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858544	0.91433	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.16457	2.34;2.34	6.06	6.06	0.98353	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.36580	0.0972	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00901	-1.1521	10	0.16896	T	0.51	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	247	Q2WGJ9	FR1L6_HUMAN	L	247	ENSP00000428280:V247L;ENSP00000381982:V247L	ENSP00000381982:V247L	V	+	1	0	FER1L6	125057374	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	6.740000	0.74832	2.882000	0.98803	0.655000	0.94253	GTG		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		21	158	1	0	1.9806e-07	0.002299	2.84182e-07	21	158				
FER1L6	654463	broad.mit.edu	37	8	125074120	125074120	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:125074120C>A	ENST00000522917.1	+	25	3381	c.3175C>A	c.(3175-3177)Ccg>Acg	p.P1059T	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1059T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1059	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTTCTGCACCCGCCACTGAG	0.547																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3175-3177)CCG>ACG		fer-1-like 6							83.0	85.0	85.0					8																	125074120		2008	4215	6223	SO:0001583	missense	654463					integral to membrane		g.chr8:125074120C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3175C>A	8.37:g.125074120C>A	ENSP00000428280:p.Pro1059Thr					uc003yqy.1_Intron	p.P1059T	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		25	3381	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1059			Cytoplasmic (Potential).|C2 4.			Missense_Mutation	SNP	ENST00000522917.1	37	c.3175C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311439	0.81358	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81415	-1.49;-1.49	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.91418	0.7292	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92183	0.5753	10	0.72032	D	0.01	-9.9555	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1059	Q2WGJ9	FR1L6_HUMAN	T	1059	ENSP00000428280:P1059T;ENSP00000381982:P1059T	ENSP00000381982:P1059T	P	+	1	0	FER1L6	125143301	1.000000	0.71417	0.990000	0.47175	0.553000	0.35397	7.776000	0.85560	2.738000	0.93877	0.655000	0.94253	CCG		0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		17	69	1	0	1.02788e-11	0.00499	1.71911e-11	17	69				
ASAP1	50807	broad.mit.edu	37	8	131073179	131073179	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:131073179C>A	ENST00000518721.1	-	28	3065	c.2838G>T	c.(2836-2838)ctG>ctT	p.L946L	ASAP1_ENST00000357668.1_Silent_p.L946L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	946	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L946>?(1)|p.L946L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCTTGGGGGCCAGTTCTGTGG	0.577																																							uc003yta.1		NA																	2	Complex(1)|Substitution - coding silent(1)		kidney(2)	ovary(4)	4						c.(2836-2838)CTG>CTT		development and differentiation enhancing factor							86.0	106.0	99.0					8																	131073179		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073179C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2838G>T	8.37:g.131073179C>A						ASAP1_uc003ysz.1_Silent_p.L757L|ASAP1_uc011liw.1_Silent_p.L939L	p.L946L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			27	2866	-			946			Pro-rich.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.2838G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	5.516	0.280184	0.10458	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.24	4.35	0.52113	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52442	-0.8575	4	.	.	.	.	6.2762	0.20981	0.0:0.6823:0.1633:0.1543	.	.	.	.	C	767;303	.	.	G	-	1	0	ASAP1	131142361	0.999000	0.42202	1.000000	0.80357	0.713000	0.41058	0.668000	0.25127	2.436000	0.82500	0.655000	0.94253	GGC		0.577	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		61	177	1	0	9.04393e-38	0.00361	1.81826e-37	61	177				
ADCY8	114	broad.mit.edu	37	8	131964203	131964203	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:131964203C>A	ENST00000286355.5	-	3	3244	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ADCY8_ENST00000377928.3_Silent_p.L384L|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	384					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGATCATTTCCAGGACAACAA	0.532										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1150-1152)CTG>CTT		adenylate cyclase 8							144.0	117.0	126.0					8																	131964203		2203	4300	6503	SO:0001819	synonymous_variant	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131964203C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1152G>T	8.37:g.131964203C>A		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.L384L	p.L384L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		3	1408	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		384			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.1152G>T	CCDS6363.1																																																																																				0.532	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			17	65	1	0	1.5739e-10	0.004007	2.54668e-10	17	65				
ADCY8	114	broad.mit.edu	37	8	132002674	132002674	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:132002674C>A	ENST00000286355.5	-	2	3167	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A359S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	359					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCAGCCTGGCCTCCACACAC	0.502										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1075-1077)GCC>TCC		adenylate cyclase 8							117.0	124.0	122.0					8																	132002674		2203	4300	6503	SO:0001583	missense	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002674C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1075G>T	8.37:g.132002674C>A	ENSP00000286355:p.Ala359Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A359S	p.A359S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1331	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		359			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1075G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258661	0.80246	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79033	-1.23;-1.22	5.72	5.72	0.89469	.	0.049273	0.85682	D	0.000000	T	0.65801	0.2726	L	0.31578	0.945	0.45607	D	0.998545	B;B	0.29766	0.256;0.0	B;B	0.21917	0.037;0.001	T	0.63001	-0.6734	10	0.07813	T	0.8	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	359;359	E7EVL1;P40145	.;ADCY8_HUMAN	S	359	ENSP00000286355:A359S;ENSP00000367161:A359S	ENSP00000286355:A359S	A	-	1	0	ADCY8	132071856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	GCC		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			34	130	1	0	4.34311e-12	0.003271	7.30926e-12	34	130				
FAM135B	51059	broad.mit.edu	37	8	139155268	139155268	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:139155268T>A	ENST00000395297.1	-	16	3795	c.3625A>T	c.(3625-3627)Ata>Tta	p.I1209L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1209										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)			ATTCGGGATATGGAGAGGTTG	0.403										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3625-3627)ATA>TTA		hypothetical protein LOC51059							118.0	113.0	115.0					8																	139155268		1893	4107	6000	SO:0001583	missense	51059							g.chr8:139155268T>A	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.3625A>T	8.37:g.139155268T>A	ENSP00000378710:p.Ile1209Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.I1110L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.I771L|FAM135B_uc003yvb.2_3'UTR	p.I1209L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		16	3796	-	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)		1209					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3625A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934773	0.73442	.	.	ENSG00000147724	ENST00000395297	T	0.43294	0.95	5.86	5.86	0.93980	Domain of unknown function DUF676, lipase-like (1);	0.053949	0.64402	D	0.000002	T	0.46092	0.1375	N	0.19112	0.55	0.44409	D	0.997326	P;P	0.51537	0.946;0.941	P;P	0.59546	0.859;0.844	T	0.39272	-0.9622	10	0.35671	T	0.21	-19.6418	15.4291	0.75077	0.0:0.0:0.0:1.0	.	1209;1209	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	L	1209	ENSP00000378710:I1209L	ENSP00000378710:I1209L	I	-	1	0	FAM135B	139224450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.140000	0.42159	2.241000	0.73720	0.533000	0.62120	ATA		0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	28	0	0	0	0.001855	0	14	28				
TSNARE1	203062	broad.mit.edu	37	8	143436085	143436085	+	Start_Codon_SNP	SNP	T	T	G	rs147546908		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:143436085T>G	ENST00000307180.3	-	2	118	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	TSNARE1_ENST00000524325.1_Start_Codon_SNP_p.M1L|TSNARE1_ENST00000519651.1_Start_Codon_SNP_p.M1L|TSNARE1_ENST00000520166.1_Start_Codon_SNP_p.M1L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	1					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGTATGACATCTTCTTACAG	0.572																																							uc003ywk.2		NA																	0					0						c.(1-3)ATG>CTG		t-SNARE domain containing 1							34.0	33.0	34.0					8																	143436085		2203	4300	6503	SO:0001582	initiator_codon_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143436085T>G			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1A>C	8.37:g.143436085T>G	ENSP00000303437:p.Met1Leu					TSNARE1_uc011lju.1_Missense_Mutation_p.M1L|TSNARE1_uc003ywj.2_Missense_Mutation_p.M1L|TSNARE1_uc003ywl.3_Missense_Mutation_p.M1L	p.M1L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			2	119	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1A>C	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081948	0.36758	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	T;T;T;T;T;T	0.32515	2.03;2.01;2.03;1.45;1.82;1.77	3.24	1.98	0.26296	.	0.000000	0.39687	U	0.001291	T	0.22704	0.0548	.	.	.	0.80722	D	1	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.06463	-1.0825	9	0.87932	D	0	0.231	6.546	0.22406	0.0:0.0:0.2479:0.7521	.	1;1;1;1	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	L	1;1;1;1;1;17	ENSP00000428763:M1L;ENSP00000303437:M1L;ENSP00000427770:M1L;ENSP00000429679:M1L;ENSP00000429626:M1L;ENSP00000430789:M17L	ENSP00000303437:M1L	M	-	1	0	TSNARE1	143433992	0.958000	0.32768	0.925000	0.36789	0.672000	0.39443	0.442000	0.21628	0.360000	0.24265	0.460000	0.39030	ATG		0.572	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	Missense_Mutation	15	25	0	0	0	0.00499	0	15	25				
KIAA2026	158358	broad.mit.edu	37	9	5922478	5922478	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:5922478A>G	ENST00000399933.3	-	8	3517	c.3518T>C	c.(3517-3519)aTt>aCt	p.I1173T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.I1143T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1173										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAAAGGTGTAATTGTTTTGTT	0.368																																							uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3517-3519)ATT>ACT		hypothetical protein LOC158358							181.0	172.0	175.0					9																	5922478		1878	4108	5986	SO:0001583	missense	158358							g.chr9:5922478A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3518T>C	9.37:g.5922478A>G	ENSP00000382815:p.Ile1173Thr					KIAA2026_uc010mht.2_Missense_Mutation_p.I348T	p.I1173T	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3734	-		Acute lymphoblastic leukemia(23;0.158)	1173					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3518T>C		.	.	.	.	.	.	.	.	.	.	A	0.065	-1.214610	0.01555	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.31	4.15	0.48705	.	0.480070	0.18060	N	0.152998	T	0.19485	0.0468	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20371	-1.0277	9	0.19147	T	0.46	-1.1568	3.2719	0.06884	0.6436:0.1427:0.0765:0.1372	.	1173	Q5HYC2	K2026_HUMAN	T	1173;1143	.	ENSP00000370870:I1143T	I	-	2	0	KIAA2026	5912478	0.879000	0.30193	0.058000	0.19502	0.147000	0.21601	1.844000	0.39269	0.828000	0.34709	0.454000	0.30748	ATT		0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	91	0	0	0	0.001168	0	4	91				
ADAMTSL1	92949	broad.mit.edu	37	9	18635992	18635992	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:18635992T>C	ENST00000380548.4	+	6	992	c.653T>C	c.(652-654)gTc>gCc	p.V218A	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V218A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V218A|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V218A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	218						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTCGCCTTGTCTTAAAAGGT	0.353																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(652-654)GTC>GCC		ADAMTS-like 1 isoform 4 precursor							227.0	212.0	217.0					9																	18635992		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18635992T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.653T>C	9.37:g.18635992T>C	ENSP00000369921:p.Val218Ala					ADAMTSL1_uc003znb.2_Missense_Mutation_p.V218A|ADAMTSL1_uc003znc.3_Missense_Mutation_p.V218A	p.V218A	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	6	780	+			218					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.653T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	7.926	0.739680	0.15642	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.62232	0.04;0.78;0.78;0.78	6.08	4.94	0.65067	.	.	.	.	.	T	0.46464	0.1394	N	0.19112	0.55	0.80722	D	1	B;B	0.28178	0.104;0.202	B;B	0.33454	0.024;0.164	T	0.29336	-1.0015	9	0.11794	T	0.64	.	12.1649	0.54125	0.0:0.0664:0.0:0.9336	.	218;218	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	A	218	ENSP00000369921:V218A;ENSP00000327887:V218A;ENSP00000369940:V218A;ENSP00000276935:V218A	ENSP00000276935:V218A	V	+	2	0	ADAMTSL1	18625992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.308000	0.59129	1.124000	0.41980	0.533000	0.62120	GTC		0.353	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			20	55	0	0	0	0.001882	0	20	55				
TAF1L	138474	broad.mit.edu	37	9	32633404	32633404	+	Missense_Mutation	SNP	C	C	T	rs145899352		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:32633404C>T	ENST00000242310.4	-	1	2263	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	725					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCAGGTTTCCGTTTATAATA	0.423																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2173-2175)CGG>CAG		TBP-associated factor RNA polymerase 1-like		C	GLN/ARG	0,4406		0,0,2203	166.0	165.0	166.0		2174	-0.6	0.9	9	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	725/1827	32633404	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633404C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2174G>A	9.37:g.32633404C>T	ENSP00000418379:p.Arg725Gln					uc003zrh.1_5'Flank	p.R725Q	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2264	-			725					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2174G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446689	0.43429	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.16743	2.32	0.633	-0.574	0.11738	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.046961	0.85682	D	0.000000	T	0.37865	0.1019	M	0.90650	3.135	0.48901	D	0.999726	D	0.69078	0.997	D	0.67382	0.951	T	0.13710	-1.0499	10	0.87932	D	0	.	3.9529	0.09377	0.0:0.4392:0.0:0.5608	.	725	Q8IZX4	TAF1L_HUMAN	Q	725	ENSP00000418379:R725Q	ENSP00000418379:R725Q	R	-	2	0	TAF1L	32623404	1.000000	0.71417	0.914000	0.36105	0.857000	0.48899	1.177000	0.31969	-0.255000	0.09486	0.195000	0.17529	CGG		0.423	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			53	112	0	0	0	0.00361	0	53	112				
AQP7	364	broad.mit.edu	37	9	33395131	33395131	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:33395131T>A	ENST00000539936.1	-	3	327	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	30					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CATCTTCCTCTGCAGTATTTC	0.577																																							uc003zst.2		NA																	0					0						c.(88-90)CAG>CTG		aquaporin 7							113.0	76.0	88.0					9																	33395131		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395131T>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.89A>T	9.37:g.33395131T>A	ENSP00000439534:p.Gln30Leu					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lnx.1_Missense_Mutation_p.Q30L|AQP7_uc011lny.1_Missense_Mutation_p.Q29L|AQP7_uc003zss.3_5'UTR|AQP7_uc011lnz.1_5'UTR|AQP7_uc011loa.1_5'UTR	p.Q30L	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	261	-			30			Cytoplasmic (Potential).		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.89A>T		.	.	.	.	.	.	.	.	.	.	T	4.454	0.084090	0.08583	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.27	0.726	0.18248	Aquaporin-like (1);	.	.	.	.	T	0.76652	0.4017	L	0.32530	0.975	0.18873	N	0.999987	B;B;B	0.23806	0.091;0.04;0.022	B;B;B	0.29440	0.102;0.102;0.063	T	0.67292	-0.5707	9	0.87932	D	0	-5.1539	5.8295	0.18572	0.0:0.3391:0.0:0.6609	.	29;30;30	Q5T5M0;B7Z4U2;O14520	.;.;AQP7_HUMAN	L	29;30;29;30	ENSP00000368821:Q29L;ENSP00000297988:Q30L;ENSP00000368820:Q29L;ENSP00000439534:Q30L	ENSP00000297988:Q30L	Q	-	2	0	AQP7	33385131	0.000000	0.05858	0.095000	0.20976	0.006000	0.05464	0.219000	0.17641	0.311000	0.23014	-0.404000	0.06349	CAG		0.577	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		16	32	0	0	0	0.003163	0	16	32				
TLN1	7094	broad.mit.edu	37	9	35711289	35711289	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:35711289C>A	ENST00000314888.9	-	30	4335	c.3982G>T	c.(3982-3984)Gcc>Tcc	p.A1328S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1328S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1328	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTAGGGGCAGCAGGGTCC	0.582																																							uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(3982-3984)GCC>TCC		talin 1							57.0	53.0	55.0					9																	35711289		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35711289C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3982G>T	9.37:g.35711289C>A	ENSP00000316029:p.Ala1328Ser						p.A1328S	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		30	4336	-	all_epithelial(49;0.167)		1328			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.3982G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475942	0.26511	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.28895	1.59;1.59	5.82	-1.28	0.09318	Vinculin-binding site-containing domain (1);	0.404030	0.29830	N	0.011084	T	0.19805	0.0476	L	0.31526	0.94	0.28369	N	0.920086	B	0.12630	0.006	B	0.24394	0.053	T	0.31558	-0.9939	10	0.09843	T	0.71	-0.6176	14.8843	0.70555	0.6258:0.2893:0.085:0.0	.	1328	Q9Y490	TLN1_HUMAN	S	1328	ENSP00000316029:A1328S;ENSP00000442981:A1328S	ENSP00000316029:A1328S	A	-	1	0	TLN1	35701289	0.000000	0.05858	0.810000	0.32431	0.964000	0.63967	-0.055000	0.11807	-0.485000	0.06754	-0.314000	0.08810	GCC		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	53	1	0	1.23904e-05	0.000602	1.62503e-05	4	53				
ALDH1B1	219	broad.mit.edu	37	9	38395746	38395746	+	Start_Codon_SNP	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:38395746A>T	ENST00000377698.3	+	2	154	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	1					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GAGTGTCAGCATGCTGCGCTT	0.607																																							uc004aay.2		NA																	0				skin(1)	1						c.(1-3)ATG>TTG		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						49.0	47.0	47.0					9																	38395746		2203	4300	6503	SO:0001582	initiator_codon_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395746A>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1A>T	9.37:g.38395746A>T	ENSP00000366927:p.Met1Leu						p.M1L	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	113	+			1					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1A>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190173	0.38707	.	.	ENSG00000137124	ENST00000377698	T	0.73789	-0.78	5.81	4.65	0.58169	.	0.261656	0.32041	N	0.006675	T	0.65365	0.2684	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61898	-0.6968	9	0.72032	D	0.01	.	8.843	0.35153	0.9144:0.0:0.0856:0.0	.	1	P30837	AL1B1_HUMAN	L	1	ENSP00000366927:M1L	ENSP00000366927:M1L	M	+	1	0	ALDH1B1	38385746	1.000000	0.71417	0.946000	0.38457	0.877000	0.50540	3.714000	0.54889	0.998000	0.38996	0.533000	0.62120	ATG		0.607	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		Missense_Mutation	6	39	0	0	0	0.001168	0	6	39				
TMEM252	169693	broad.mit.edu	37	9	71152289	71152289	+	Silent	SNP	G	G	A	rs371602352		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:71152289G>A	ENST00000377311.3	-	2	451	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	133						integral component of membrane (GO:0016021)											TTCCATCCTGGAATTCCAGGC	0.557																																							uc004agt.2		NA																	0					0						c.(397-399)TTC>TTT		hypothetical protein LOC169693							58.0	61.0	60.0					9																	71152289		2203	4300	6503	SO:0001819	synonymous_variant	169693					integral to membrane		g.chr9:71152289G>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.399C>T	9.37:g.71152289G>A						uc004ags.1_RNA	p.F133F	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			2	452	-			133						Silent	SNP	ENST00000377311.3	37	c.399C>T	CCDS35040.1																																																																																				0.557	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		4	41	0	0	0	0.000248	0	4	41				
PRUNE2	158471	broad.mit.edu	37	9	79318740	79318740	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79318740T>A	ENST00000376718.3	-	9	7912	c.7789A>T	c.(7789-7791)Aca>Tca	p.T2597S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2238S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2597					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						GGCTGACATGTGTCTGGGAAG	0.428																																							uc010mpk.2		NA																	0					0						c.(7789-7791)ACA>TCA		prune homolog 2							105.0	98.0	100.0					9																	79318740		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318740T>A	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.7789A>T	9.37:g.79318740T>A	ENSP00000365908:p.Thr2597Ser					PRUNE2_uc004akj.3_Missense_Mutation_p.T50S|PRUNE2_uc010mpl.1_Missense_Mutation_p.T50S	p.T2597S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	7913	-			2597					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7789A>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.900|3.900	-0.022183|-0.022183	0.07634|0.07634	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.47869	.|0.83;0.84	5.61|5.61	0.549|0.549	0.17213|0.17213	.|.	.|1.046320	.|0.07483	.|N	.|0.904303	T|T	0.26304|0.26304	0.0642|0.0642	N|N	0.20401|0.20401	0.57|0.57	0.09310|0.09310	N|N	1|1	.|B;B	.|0.20052	.|0.041;0.024	.|B;B	.|0.14578	.|0.011;0.008	T|T	0.20405|0.20405	-1.0276|-1.0276	5|10	.|0.19590	.|T	.|0.45	-5.0E-4|-5.0E-4	1.5796|1.5796	0.02632|0.02632	0.133:0.208:0.1269:0.5321|0.133:0.208:0.1269:0.5321	.|.	.|2597;2597	.|Q8WUY3-3;Q8WUY3	.|.;PRUN2_HUMAN	L|S	1918|2597;2238;2596	.|ENSP00000365908:T2597S;ENSP00000397425:T2238S	.|ENSP00000365908:T2597S	H|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78508560|78508560	0.004000|0.004000	0.15560|0.15560	0.002000|0.002000	0.10522|0.10522	0.670000|0.670000	0.39368|0.39368	0.277000|0.277000	0.18734|0.18734	0.066000|0.066000	0.16515|0.16515	0.482000|0.482000	0.46254|0.46254	CAC|ACA		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		21	81	0	0	0	0.001882	0	21	81				
PRUNE2	158471	broad.mit.edu	37	9	79323683	79323683	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79323683C>T	ENST00000376718.3	-	8	3630	c.3507G>A	c.(3505-3507)gtG>gtA	p.V1169V	PRUNE2_ENST00000428286.1_Silent_p.V810V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1169					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						CCAGCTGTCTCACTGTAAATC	0.552																																							uc010mpk.2		NA																	0					0						c.(3505-3507)GTG>GTA		prune homolog 2							126.0	117.0	120.0					9																	79323683		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323683C>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.3507G>A	9.37:g.79323683C>T							p.V1169V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3631	-			1169					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.3507G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180495	0.21787	.	.	ENSG00000106772	ENST00000426088	.	.	.	6.08	5.18	0.71444	.	.	.	.	.	T	0.62122	0.2402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60984	-0.7154	4	.	.	.	-16.444	10.1079	0.42544	0.0:0.7924:0.1363:0.0713	.	.	.	.	K	491	.	.	E	-	1	0	PRUNE2	78513503	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	0.618000	0.24373	1.594000	0.50039	0.655000	0.94253	GAG		0.552	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		34	69	0	0	0	0.004289	0	34	69				
PRUNE2	158471	broad.mit.edu	37	9	79325100	79325100	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79325100C>G	ENST00000376718.3	-	8	2213	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R338T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	697					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						ATCTGAGGCTCTCCTATCAAT	0.443																																							uc010mpk.2		NA																	0					0						c.(2089-2091)AGA>ACA		prune homolog 2							46.0	42.0	43.0					9																	79325100		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325100C>G	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.2090G>C	9.37:g.79325100C>G	ENSP00000365908:p.Arg697Thr						p.R697T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2214	-			697					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2090G>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.15|10.15	1.272231|1.272231	0.23221|0.23221	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.26223	.|1.75;1.75	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	.|0.359607	.|0.24217	.|N	.|0.040463	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.49643|0.49643	-0.8918|-0.8918	5|10	.|0.87932	.|D	.|0	-18.0451|-18.0451	10.5739|10.5739	0.45217|0.45217	0.0:0.7976:0.1339:0.0685|0.0:0.7976:0.1339:0.0685	.|.	.|697	.|Q8WUY3	.|PRUN2_HUMAN	D|T	18|697;338;696	.|ENSP00000365908:R697T;ENSP00000397425:R338T	.|ENSP00000365908:R697T	E|R	-|-	3|2	2|0	PRUNE2|PRUNE2	78514920|78514920	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.045000|0.045000	0.14185|0.14185	2.062000|2.062000	0.41413|0.41413	1.498000|1.498000	0.48600|0.48600	-0.127000|-0.127000	0.14921|0.14921	GAG|AGA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	23	0	0	0	0.001368	0	11	23				
VPS13A	23230	broad.mit.edu	37	9	79933397	79933397	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79933397G>A	ENST00000360280.3	+	41	5463	c.5203G>A	c.(5203-5205)Gct>Act	p.A1735T	VPS13A_ENST00000376636.3_Missense_Mutation_p.A1696T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.A1735T|VPS13A_ENST00000357409.5_Missense_Mutation_p.A1735T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1735					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTTCTTGAGGCTGGAATTGG	0.383																																							uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(5203-5205)GCT>ACT		vacuolar protein sorting 13A isoform A							80.0	82.0	81.0					9																	79933397		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79933397G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5203G>A	9.37:g.79933397G>A	ENSP00000353422:p.Ala1735Thr					VPS13A_uc004akp.3_Missense_Mutation_p.A1735T|VPS13A_uc004akq.3_Missense_Mutation_p.A1735T|VPS13A_uc004aks.2_Missense_Mutation_p.A1696T|VPS13A_uc004akt.2_Missense_Mutation_p.A75T|VPS13A_uc010mpo.1_Missense_Mutation_p.A331T	p.A1735T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			41	5463	+			1735					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5203G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388235	0.95988	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.4	5.4	0.78164	.	0.060781	0.64402	D	0.000004	T	0.40645	0.1125	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.959;1.0;1.0;1.0	P;D;D;D	0.91635	0.835;0.993;0.999;0.998	T	0.05500	-1.0881	10	0.16896	T	0.51	.	19.5311	0.95230	0.0:0.0:1.0:0.0	.	1696;1735;1735;1735	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	1735;1696;1735;1735	ENSP00000365821:A1735T;ENSP00000365823:A1696T;ENSP00000353422:A1735T;ENSP00000349985:A1735T	ENSP00000349985:A1735T	A	+	1	0	VPS13A	79123217	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.128000	0.94424	2.690000	0.91761	0.460000	0.39030	GCT		0.383	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		17	69	0	0	0	0.00499	0	17	69				
SPATA31D1	389763	broad.mit.edu	37	9	84609893	84609893	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:84609893A>T	ENST00000344803.2	+	4	4555	c.4508A>T	c.(4507-4509)gAg>gTg	p.E1503V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1503					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGAAAGTTGAGGCATTTAAG	0.502																																							uc004amn.2		NA																	0					0						c.(4507-4509)GAG>GTG		hypothetical protein LOC389763							56.0	56.0	56.0					9																	84609893		2066	4201	6267	SO:0001583	missense	389763					integral to membrane		g.chr9:84609893A>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.4508A>T	9.37:g.84609893A>T	ENSP00000341988:p.Glu1503Val						p.E1503V	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4555	+			1503						Missense_Mutation	SNP	ENST00000344803.2	37	c.4508A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.000013	0.00431	.	.	ENSG00000214929	ENST00000344803	T	0.04603	3.59	2.52	-4.55	0.03441	.	.	.	.	.	T	0.01353	0.0044	N	0.02539	-0.55	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.43376	-0.9395	9	0.02654	T	1	-0.0056	4.174	0.10343	0.566:0.0:0.1743:0.2597	.	1503	Q6ZQQ2	F75D1_HUMAN	V	1503	ENSP00000341988:E1503V	ENSP00000341988:E1503V	E	+	2	0	FAM75D1	83799713	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.065000	0.14466	-0.995000	0.03459	-0.347000	0.07816	GAG		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	37	0	0	0	0.000602	0	5	37				
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448																																							uc004amo.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1510-1512)GGG>TGG		RAS and EF-hand domain containing							74.0	80.0	78.0					9																	85615413		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615413C>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1510G>T	9.37:g.85615413C>A	ENSP00000365630:p.Gly504Trp						p.G504W	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			11	1771	-			504					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1510G>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412465	0.25465	.	.	ENSG00000165105	ENST00000376447	T	0.61040	0.14	5.77	3.92	0.45320	.	0.426959	0.25857	N	0.027858	T	0.53578	0.1805	L	0.47716	1.5	0.18873	N	0.999987	D	0.57899	0.981	P	0.48738	0.588	T	0.51293	-0.8724	10	0.87932	D	0	.	6.9942	0.24772	0.0:0.6593:0.1806:0.1601	.	504	Q8IZ41	RASEF_HUMAN	W	504	ENSP00000365630:G504W	ENSP00000365630:G504W	G	-	1	0	RASEF	84805233	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.412000	0.21131	1.439000	0.47511	0.462000	0.41574	GGG		0.448	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		18	57	1	0	3.32936e-07	0.006122	4.72157e-07	18	57				
SPATA31C1	441452	broad.mit.edu	37	9	90536463	90536463	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:90536463G>T	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)											AGGTTCTGGGGGCGACCTCTG	0.512																																							uc010mqi.2		NA																	0					0						c.(1639-1641)GGG>GGT		family with sequence similarity 75, member C1							15.0	18.0	17.0					9																	90536463		692	1591	2283			441452							g.chr9:90536463G>T	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.90536463G>T						FAM75C1_uc004apq.3_Silent_p.G530G	p.G547G	NM_001145124	NP_001138596					4	1670	+									Silent	SNP	ENST00000602681.1	37	c.1641G>T																																																																																					0.512	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		19	111	1	0	0.000132079	0.001216	0.000163035	19	111				
ROR2	4920	broad.mit.edu	37	9	94486419	94486419	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:94486419T>C	ENST00000375708.3	-	9	2555	c.2357A>G	c.(2356-2358)tAc>tGc	p.Y786C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	786	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCCCACGTAGCGGGCGTT	0.657																																							uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2356-2358)TAC>TGC		receptor tyrosine kinase-like orphan receptor 2							53.0	57.0	56.0					9																	94486419		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486419T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2357A>G	9.37:g.94486419T>C	ENSP00000364860:p.Tyr786Cys					ROR2_uc004ari.1_Intron	p.Y786C	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2556	-			786			Cytoplasmic (Potential).|Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2357A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591436	0.28357	.	.	ENSG00000169071	ENST00000375708	T	0.77358	-1.09	4.65	4.65	0.58169	.	0.000000	0.38436	N	0.001697	T	0.79759	0.4501	N	0.19112	0.55	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.82271	-0.0540	10	0.56958	D	0.05	.	14.2745	0.66170	0.0:0.0:0.0:1.0	.	786	Q01974	ROR2_HUMAN	C	786	ENSP00000364860:Y786C	ENSP00000364860:Y786C	Y	-	2	0	ROR2	93526240	1.000000	0.71417	0.914000	0.36105	0.022000	0.10575	6.015000	0.70791	1.957000	0.56846	0.459000	0.35465	TAC		0.657	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			21	39	0	0	0	0.002299	0	21	39				
COL15A1	1306	broad.mit.edu	37	9	101802814	101802814	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:101802814G>A	ENST00000375001.3	+	23	2910	c.2487G>A	c.(2485-2487)ggG>ggA	p.G829G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	829	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCGGACGGGTTGCCTGGGC	0.582																																							uc004azb.1		NA																	0				ovary(6)	6						c.(2485-2487)GGG>GGA		alpha 1 type XV collagen precursor							186.0	159.0	168.0					9																	101802814		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101802814G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2487G>A	9.37:g.101802814G>A							p.G829G	NM_001855	NP_001846	P39059	COFA1_HUMAN			23	2693	+		Acute lymphoblastic leukemia(62;0.0562)	829			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2487G>A	CCDS35081.1																																																																																				0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		16	86	0	0	0	0.004007	0	16	86				
ERP44	23071	broad.mit.edu	37	9	102769949	102769949	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:102769949G>A	ENST00000262455.6	-	9	984	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	262	Interaction with ITPR1. {ECO:0000250}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TATGAGAAAAGGCAGTCCTTC	0.348																																							uc004bam.2		NA																	0					0						c.(784-786)CCT>CTT		thioredoxin domain containing 4 (endoplasmic							103.0	102.0	102.0					9																	102769949		2203	4299	6502	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102769949G>A	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.785C>T	9.37:g.102769949G>A	ENSP00000262455:p.Pro262Leu					ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.P262L	p.P262L	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			9	993	-			262			Interaction with ITPR1 (By similarity).		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.785C>T	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282560	0.95489	.	.	ENSG00000023318	ENST00000262455	T	0.33438	1.41	6.06	6.06	0.98353	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70637	-0.4817	10	0.66056	D	0.02	0.1419	20.6316	0.99525	0.0:0.0:1.0:0.0	.	262	Q9BS26	ERP44_HUMAN	L	262	ENSP00000262455:P262L	ENSP00000262455:P262L	P	-	2	0	ERP44	101809770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.128000	0.94424	2.878000	0.98634	0.650000	0.86243	CCT		0.348	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		18	59	0	0	0	0.006122	0	18	59				
C9orf84	158401	broad.mit.edu	37	9	114484859	114484859	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:114484859T>A	ENST00000318737.4	-	13	1897	c.1769A>T	c.(1768-1770)cAg>cTg	p.Q590L	C9orf84_ENST00000394777.4_Missense_Mutation_p.Q551L|C9orf84_ENST00000394779.3_Missense_Mutation_p.Q551L|C9orf84_ENST00000374287.3_Missense_Mutation_p.Q590L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	590										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTGGCACTGGCTATCTGC	0.388																																							uc004bfr.2		NA																	0				ovary(2)	2						c.(1768-1770)CAG>CTG		hypothetical protein LOC158401 isoform 1							83.0	81.0	81.0					9																	114484859		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114484859T>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1769A>T	9.37:g.114484859T>A	ENSP00000322108:p.Gln590Leu					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.Q551L|C9orf84_uc010mug.2_Missense_Mutation_p.Q536L	p.Q590L	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			13	1904	-			590					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1769A>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506947	0.64410	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.14266	3.33;2.52;3.34;3.34	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000037	T	0.27731	0.0682	L	0.34521	1.04	0.46678	D	0.999151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.01345	-1.1379	10	0.30078	T	0.28	-7.472	16.8222	0.85835	0.0:0.0:0.0:1.0	.	551;590;551	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	L	551;551;204;590;590	ENSP00000378259:Q551L;ENSP00000378257:Q551L;ENSP00000363405:Q590L;ENSP00000322108:Q590L	ENSP00000322108:Q590L	Q	-	2	0	C9orf84	113524680	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	3.509000	0.53386	2.371000	0.80710	0.533000	0.62120	CAG		0.388	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		8	28	0	0	0	0.00308	0	8	28				
PRPF4	9128	broad.mit.edu	37	9	116044941	116044941	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:116044941C>G	ENST00000374198.4	+	4	513	c.411C>G	c.(409-411)ctC>ctG	p.L137L	PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374199.4_Silent_p.L136L	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	137					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAAATATCCTCTCAGTTGTCG	0.303																																							uc004bgx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(409-411)CTC>CTG		PRP4 pre-mRNA processing factor 4 homolog							67.0	65.0	66.0					9																	116044941		2203	4300	6503	SO:0001819	synonymous_variant	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116044941C>G	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.411C>G	9.37:g.116044941C>G						PRPF4_uc004bgy.2_Silent_p.L136L	p.L137L	NM_004697	NP_004688	O43172	PRP4_HUMAN			4	461	+			137					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	37	c.411C>G	CCDS6791.1																																																																																				0.303	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		3	38	0	0	0	0.000602	0	3	38				
TLR4	7099	broad.mit.edu	37	9	120470943	120470943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:120470943C>A	ENST00000355622.6	+	2	297	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000394487.4_Missense_Mutation_p.L26M	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	66					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTTTAATCCCCTGAGGCATTT	0.443																																							uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(196-198)CTG>ATG		toll-like receptor 4 precursor							155.0	158.0	157.0					9																	120470943		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470943C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.196C>A	9.37:g.120470943C>A	ENSP00000363089:p.Leu66Met					TLR4_uc004bka.2_Missense_Mutation_p.L26M|TLR4_uc004bkb.2_Intron	p.L66M	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	487	+			66			LRR 1.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.196C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765592	0.69878	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.69926	5.06;-0.44	5.66	0.622	0.17648	.	0.000000	0.52532	D	0.000074	T	0.78780	0.4337	M	0.82132	2.575	0.35349	D	0.787205	D	0.89917	1.0	D	0.91635	0.999	T	0.81102	-0.1085	10	0.72032	D	0.01	.	9.3476	0.38118	0.0:0.6592:0.0:0.3408	.	66	O00206	TLR4_HUMAN	M	26;66	ENSP00000377997:L26M;ENSP00000363089:L66M	ENSP00000363089:L66M	L	+	1	2	TLR4	119510764	0.142000	0.22610	0.947000	0.38551	0.992000	0.81027	0.455000	0.21843	-0.070000	0.12908	0.655000	0.94253	CTG		0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		52	121	1	0	4.17463e-26	0.00361	8.25703e-26	52	121				
OR1N2	138882	broad.mit.edu	37	9	125316353	125316353	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:125316353T>A	ENST00000373688.2	+	1	963	c.905T>A	c.(904-906)cTa>cAa	p.L302Q		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTCCCACGCTAAACCCATTC	0.393																																							uc011lyx.1		NA																	0				ovary(2)|skin(2)	4						c.(904-906)CTA>CAA		olfactory receptor, family 1, subfamily N,							132.0	131.0	132.0					9																	125316353		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316353T>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.905T>A	9.37:g.125316353T>A	ENSP00000362792:p.Leu302Gln						p.L302Q	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	905	+			302			Helical; Name=7; (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.905T>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.130349	0.56721	.	.	ENSG00000171501	ENST00000373688	T	0.50548	0.74	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36519	N	0.002560	T	0.77579	0.4151	H	0.96720	3.87	0.18873	N	0.999989	D	0.89917	1.0	D	0.75020	0.985	T	0.74688	-0.3581	10	0.87932	D	0	.	13.1813	0.59655	0.0:0.0:0.0:1.0	.	302	Q8NGR9	OR1N2_HUMAN	Q	302	ENSP00000362792:L302Q	ENSP00000362792:L302Q	L	+	2	0	OR1N2	124356174	0.705000	0.27846	0.984000	0.44739	0.848000	0.48234	4.978000	0.63799	1.933000	0.56026	0.524000	0.50904	CTA		0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			8	69	0	0	0	0.006214	0	8	69				
NR6A1	2649	broad.mit.edu	37	9	127300495	127300495	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:127300495C>G	ENST00000487099.2	-	6	857	c.700G>C	c.(700-702)Ggc>Cgc	p.G234R	NR6A1_ENST00000344523.4_Missense_Mutation_p.G233R|NR6A1_ENST00000416460.2_Missense_Mutation_p.G229R|NR6A1_ENST00000373584.3_Missense_Mutation_p.G230R	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	234	Sufficient for interaction with UIMC1. {ECO:0000250}.				cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GGTGAGTGGCCAGAATAGCTA	0.507																																					Esophageal Squamous(192;272 2884 6208 20560)	Esophageal Squamous(192;272 2884 6208 20560)	uc004bor.1		NA																	0				ovary(3)	3						c.(700-702)GGC>CGC		nuclear receptor subfamily 6, group A, member 1							164.0	154.0	157.0					9																	127300495		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127300495C>G	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.700G>C	9.37:g.127300495C>G	ENSP00000420267:p.Gly234Arg					NR6A1_uc004boq.1_Missense_Mutation_p.G229R|NR6A1_uc010mwq.1_Missense_Mutation_p.G230R	p.G234R	NM_033334	NP_201591	Q15406	NR6A1_HUMAN			6	878	-			234			Sufficient for interaction with UIMC1 (By similarity).		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.700G>C	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805363	0.50315	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.94092	-3.02;-3.14;-3.14;-3.01;-3.35	5.39	3.53	0.40419	Nuclear hormone receptor, ligand-binding (1);	0.261298	0.43579	D	0.000555	D	0.84370	0.5457	N	0.14661	0.345	0.32388	N	0.553689	B;B;B	0.31859	0.005;0.242;0.343	B;B;B	0.31614	0.001;0.133;0.064	T	0.80607	-0.1307	10	0.18276	T	0.48	.	9.7007	0.40184	0.1406:0.7859:0.0:0.0735	.	230;234;229	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	R	234;230;229;233;192	ENSP00000420267:G234R;ENSP00000362686:G230R;ENSP00000413701:G229R;ENSP00000341135:G233R;ENSP00000420587:G192R	ENSP00000341135:G233R	G	-	1	0	NR6A1	126340316	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	0.644000	0.30656	0.561000	0.74099	GGC		0.507	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			9	55	0	0	0	0.006214	0	9	55				
SH2D3C	10044	broad.mit.edu	37	9	130511506	130511506	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:130511506C>A	ENST00000314830.8	-	5	1236	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	SH2D3C_ENST00000420366.1_Missense_Mutation_p.D217Y|SH2D3C_ENST00000373277.4_Missense_Mutation_p.D218Y|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.D215Y|SH2D3C_ENST00000429553.1_Missense_Mutation_p.D21Y|SH2D3C_ENST00000373276.3_Missense_Mutation_p.D307Y	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	375					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCAGCCATCGCTGCGGGTG	0.607																																							uc004bsc.2		NA																	0				ovary(1)	1						c.(1123-1125)GAT>TAT		SH2 domain containing 3C isoform a							48.0	51.0	50.0					9																	130511506		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511506C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1123G>T	9.37:g.130511506C>A	ENSP00000317817:p.Asp375Tyr					SH2D3C_uc010mxo.2_Missense_Mutation_p.D215Y|SH2D3C_uc004bry.2_Missense_Mutation_p.D217Y|SH2D3C_uc004brz.3_Missense_Mutation_p.D21Y|SH2D3C_uc011mak.1_Missense_Mutation_p.D21Y|SH2D3C_uc004bsa.2_Missense_Mutation_p.D218Y|SH2D3C_uc004bsb.2_Missense_Mutation_p.D307Y	p.D375Y	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			5	1265	-			375					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1123G>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243748	0.58995	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830;ENST00000414380	T;T;T;T;T;T;T	0.38401	2.67;2.67;2.42;2.67;1.79;2.65;1.14	5.25	5.25	0.73442	.	0.478606	0.25436	N	0.030696	T	0.38108	0.1028	N	0.22421	0.69	0.38494	D	0.948051	P;D;D;D;P	0.58620	0.911;0.983;0.979;0.977;0.947	B;P;P;P;P	0.55749	0.396;0.491;0.7;0.783;0.578	T	0.34104	-0.9842	10	0.72032	D	0.01	-1.5077	11.6567	0.51322	0.0:0.9182:0.0:0.0818	.	215;375;307;218;217	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	Y	218;217;307;215;21;375;192	ENSP00000362374:D218Y;ENSP00000388536:D217Y;ENSP00000362373:D307Y;ENSP00000362371:D215Y;ENSP00000394632:D21Y;ENSP00000317817:D375Y;ENSP00000413760:D192Y	ENSP00000317817:D375Y	D	-	1	0	SH2D3C	129551327	0.998000	0.40836	0.573000	0.28510	0.757000	0.42996	2.764000	0.47613	2.621000	0.88768	0.561000	0.74099	GAT		0.607	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		5	51	1	0	3.59834e-05	0.001168	4.57629e-05	5	51				
NUP188	23511	broad.mit.edu	37	9	131715112	131715112	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:131715112T>C	ENST00000372577.2	+	3	169	c.148T>C	c.(148-150)Tac>Cac	p.Y50H	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.T70T	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	50					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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTTTCTTACTACAAACCTCC	0.403																																							uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(148-150)TAC>CAC		nucleoporin 188kDa							94.0	97.0	96.0					9																	131715112		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131715112T>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.148T>C	9.37:g.131715112T>C	ENSP00000361658:p.Tyr50His					NUP188_uc004bwq.1_Missense_Mutation_p.Y52H	p.Y50H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			3	170	+			50					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.148T>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010299	0.93346	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.46063	0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.87578	0.89;0.998	T	0.57568	-0.7789	10	0.87932	D	0	-0.0863	14.9428	0.71006	0.0:0.0:0.0:1.0	.	50;50	Q5SRE5;F8W973	NU188_HUMAN;.	H	50	ENSP00000361658:Y50H	ENSP00000349125:Y50H	Y	+	1	0	NUP188	130754933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.121000	0.65114	0.533000	0.62120	TAC		0.403	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			3	81	0	0	0	0.004672	0	3	81				
LAMC3	10319	broad.mit.edu	37	9	133911562	133911562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:133911562C>A	ENST00000361069.4	+	4	952	c.819C>A	c.(817-819)tgC>tgA	p.C273*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	273	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCAAGTGCAACGGGCATG	0.652																																							uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(817-819)TGC>TGA		laminin, gamma 3 precursor							51.0	54.0	53.0					9																	133911562		2202	4296	6498	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133911562C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.819C>A	9.37:g.133911562C>A	ENSP00000354360:p.Cys273*						p.C273*	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	4	917	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	273			Laminin EGF-like 1.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.819C>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	37	6.549955	0.97654	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	5.06	-1.17	0.09648	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4367	0.44439	0.0:0.4624:0.0:0.5376	.	.	.	.	X	273	.	ENSP00000325873:C273X	C	+	3	2	LAMC3	132901383	0.982000	0.34865	0.713000	0.30519	0.874000	0.50279	0.214000	0.17541	-0.113000	0.11958	0.462000	0.41574	TGC		0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		7	61	1	0	0.00621372	0.006214	0.00712032	7	61				
SETX	23064	broad.mit.edu	37	9	135158694	135158694	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135158694C>A	ENST00000224140.5	-	19	6685	c.6503G>T	c.(6502-6504)cGt>cTt	p.R2168L	SETX_ENST00000372169.2_Missense_Mutation_p.R2168L|SETX_ENST00000393220.1_Missense_Mutation_p.R2168L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2168					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCTTGCCCACGGAAAGCAGA	0.478																																							uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(6502-6504)CGT>CTT		senataxin							165.0	129.0	141.0					9																	135158694		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158694C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6503G>T	9.37:g.135158694C>A	ENSP00000224140:p.Arg2168Leu					SETX_uc004cbj.2_Missense_Mutation_p.R1787L|SETX_uc010mzt.2_Missense_Mutation_p.R1787L	p.R2168L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6686	-		Myeloproliferative disorder(178;0.204)	2168					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6503G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740143	0.69304	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.89	4.89	0.63831	.	0.268407	0.30252	N	0.010048	D	0.83303	0.5225	L	0.46819	1.47	0.42739	D	0.993738	P;D;D	0.89917	0.567;1.0;1.0	B;D;D	0.79108	0.314;0.992;0.986	D	0.84325	0.0518	10	0.56958	D	0.05	.	12.7331	0.57208	0.0:0.8352:0.1648:0.0	.	2168;2168;2168	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	2168;410;2168;2168	ENSP00000224140:R2168L;ENSP00000409143:R410L;ENSP00000361242:R2168L;ENSP00000376913:R2168L	ENSP00000224140:R2168L	R	-	2	0	SETX	134148515	0.989000	0.36119	0.994000	0.49952	0.839000	0.47603	2.818000	0.48041	2.241000	0.73720	0.563000	0.77884	CGT		0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	57	1	0	8.12818e-05	0.001984	0.000101263	7	57				
SETX	23064	broad.mit.edu	37	9	135203189	135203189	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135203189G>A	ENST00000224140.5	-	10	3978	c.3796C>T	c.(3796-3798)Cct>Tct	p.P1266S	SETX_ENST00000372169.2_Missense_Mutation_p.P1266S|SETX_ENST00000393220.1_Missense_Mutation_p.P1266S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1266					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTATAGCAGGAGTTGTTCTA	0.418																																							uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(3796-3798)CCT>TCT		senataxin							142.0	136.0	138.0					9																	135203189		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203189G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3796C>T	9.37:g.135203189G>A	ENSP00000224140:p.Pro1266Ser					SETX_uc004cbj.2_Missense_Mutation_p.P885S|SETX_uc010mzt.2_Missense_Mutation_p.P885S	p.P1266S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3979	-		Myeloproliferative disorder(178;0.204)	1266					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3796C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512143	0.85389	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.96136	-3.91;-3.92;-3.62	5.8	5.8	0.92144	.	0.572404	0.16867	N	0.196282	D	0.97614	0.9218	M	0.71581	2.175	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97887	1.0295	10	0.87932	D	0	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	1266;1266;1266	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	S	1266	ENSP00000224140:P1266S;ENSP00000361242:P1266S;ENSP00000376913:P1266S	ENSP00000224140:P1266S	P	-	1	0	SETX	134193010	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	7.842000	0.86851	2.741000	0.93983	0.650000	0.86243	CCT		0.418	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		10	161	0	0	0	0.000978	0	10	161				
TTF1	7270	broad.mit.edu	37	9	135277138	135277138	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135277138G>A	ENST00000334270.2	-	2	1110	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	357					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCCTTCAGGGTATGCACTCT	0.458																																							uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1069-1071)TAC>TAT		transcription termination factor, RNA polymerase							148.0	136.0	140.0					9																	135277138		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277138G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1071C>T	9.37:g.135277138G>A						TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.Y357Y	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1123	-		Myeloproliferative disorder(178;0.204)	357					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1071C>T	CCDS6948.1																																																																																				0.458	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		8	105	0	0	0	0.00308	0	8	105				
COL5A1	1289	broad.mit.edu	37	9	137688228	137688228	+	Silent	SNP	C	C	T	rs142849628		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:137688228C>T	ENST00000371817.3	+	35	3222	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	936	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCAACTCCGGAGGTGACG	0.572																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2806-2808)TCC>TCT		alpha 1 type V collagen preproprotein		C		0,4406		0,0,2203	86.0	91.0	89.0		2808	-9.0	0.5	9	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL5A1	NM_000093.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		936/1839	137688228	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137688228C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2808C>T	9.37:g.137688228C>T							p.S936S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	35	3190	+		Myeloproliferative disorder(178;0.0341)	936			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.2808C>T	CCDS6982.1																																																																																				0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	63	0	0	0	0.001984	0	7	63				
FUT7	2529	broad.mit.edu	37	9	139925532	139925532	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:139925532G>T	ENST00000314412.6	-	2	1677	c.659C>A	c.(658-660)gCc>gAc	p.A220D	ABCA2_ENST00000341511.6_5'Flank|ABCA2_ENST00000265662.5_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000371605.3_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	220					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCGGTACTGGGCCACGGTGGG	0.627																																							uc004ckq.2		NA																	0					0						c.(658-660)GCC>GAC		fucosyltransferase 7							102.0	121.0	114.0					9																	139925532		2202	4295	6497	SO:0001583	missense	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925532G>T	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.659C>A	9.37:g.139925532G>T	ENSP00000318142:p.Ala220Asp					ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	p.A220D	NM_004479	NP_004470	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1508	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	220			Lumenal (Potential).		B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	37	c.659C>A	CCDS7022.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.571602	0.65765	.	.	ENSG00000180549	ENST00000314412	T	0.27557	1.66	4.61	3.64	0.41730	.	0.288035	0.33144	U	0.005239	T	0.44117	0.1278	M	0.70595	2.14	0.09310	N	0.999999	P	0.41947	0.766	P	0.49597	0.616	T	0.38866	-0.9641	10	0.87932	D	0	-7.648	13.2051	0.59790	0.0:0.1611:0.8389:0.0	.	220	Q11130	FUT7_HUMAN	D	220	ENSP00000318142:A220D	ENSP00000318142:A220D	A	-	2	0	FUT7	139045353	0.083000	0.21467	0.703000	0.30354	0.744000	0.42396	1.377000	0.34317	2.104000	0.64026	0.450000	0.29827	GCC		0.627	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		25	170	1	0	6.32553e-13	0.004656	1.08773e-12	25	170				
NELFB	25920	broad.mit.edu	37	9	140151353	140151353	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140151353G>C	ENST00000343053.4	+	4	781	c.444G>C	c.(442-444)caG>caC	p.Q148H		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	148					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGAAGCGGCAGATCTGGCAAG	0.562																																							uc004cmm.3		NA																	0					0						c.(442-444)CAG>CAC		cofactor of BRCA1							95.0	84.0	88.0					9																	140151353		2203	4300	6503	SO:0001583	missense	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140151353G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.444G>C	9.37:g.140151353G>C	ENSP00000339495:p.Gln148His						p.Q148H	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	4	647	+	all_cancers(76;0.0926)		148					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.444G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698337	0.88830	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.64997	1.995	0.80722	D	1	P	0.47677	0.899	P	0.57846	0.828	T	0.77013	-0.2745	9	0.87932	D	0	-53.226	18.0603	0.89374	0.0:0.0:1.0:0.0	.	148	Q8WX92	NELFB_HUMAN	H	148	.	ENSP00000339495:Q148H	Q	+	3	2	COBRA1	139271174	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.381000	0.73163	2.601000	0.87937	0.561000	0.74099	CAG		0.562	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		4	42	0	0	0	0.000248	0	4	42				
PNPLA7	375775	broad.mit.edu	37	9	140395241	140395241	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140395241C>A	ENST00000277531.4	-	15	1770	c.1584G>T	c.(1582-1584)gtG>gtT	p.V528V	PNPLA7_ENST00000406427.1_Silent_p.V553V|PNPLA7_ENST00000371457.1_Silent_p.V134V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	528					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCAGCTGGCCCACCATCTCCC	0.632																																							uc004cnf.2		NA																	0				skin(1)	1						c.(1582-1584)GTG>GTT		patatin-like phospholipase domain containing 7							66.0	49.0	55.0					9																	140395241		2192	4286	6478	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140395241C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1584G>T	9.37:g.140395241C>A						C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.V553V	p.V528V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	15	1921	-	all_cancers(76;0.126)		528			cNMP 2.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.1584G>T	CCDS7045.1																																																																																				0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		9	22	1	0	0.000274275	0.004482	0.000331549	9	22				
EHMT1	79813	broad.mit.edu	37	9	140637960	140637960	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140637960C>G	ENST00000460843.1	+	5	988	c.961C>G	c.(961-963)Cat>Gat	p.H321D	EHMT1_ENST00000334856.6_Missense_Mutation_p.H290D|EHMT1_ENST00000462484.1_Missense_Mutation_p.H321D|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	321					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGCATAACTCATTCCACTGT	0.428																																							uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(961-963)CAT>GAT		euchromatic histone-lysine N-methyltransferase 1							127.0	115.0	119.0					9																	140637960		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637960C>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.961C>G	9.37:g.140637960C>G	ENSP00000417980:p.His321Asp					EHMT1_uc004coa.2_Missense_Mutation_p.H321D|EHMT1_uc004cob.1_Missense_Mutation_p.H290D|EHMT1_uc010ncn.1_RNA	p.H321D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	998	+	all_cancers(76;0.164)		321					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.961C>G	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864232	0.71949	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.40756	1.02;1.02;1.02	5.42	5.42	0.78866	.	0.216830	0.48767	D	0.000178	T	0.52773	0.1755	M	0.63428	1.95	0.40043	D	0.975673	P;P;D	0.57899	0.704;0.921;0.981	B;P;P	0.54026	0.152;0.52;0.74	T	0.57069	-0.7874	10	0.62326	D	0.03	.	12.5515	0.56229	0.0:0.9237:0.0:0.0763	.	321;290;321	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	D	290;290;321;321	ENSP00000334476:H290D;ENSP00000417328:H321D;ENSP00000417980:H321D	ENSP00000334476:H290D	H	+	1	0	EHMT1	139757781	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.785000	0.47782	2.539000	0.85634	0.561000	0.74099	CAT		0.428	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		9	46	0	0	0	0.004482	0	9	46				
MXRA5	25878	broad.mit.edu	37	X	3239969	3239969	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:3239969A>T	ENST00000217939.6	-	5	3911	c.3757T>A	c.(3757-3759)Tcc>Acc	p.S1253T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1253						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGGATCCGGACGCTCTTGAG	0.453																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3757-3759)TCC>ACC		adlican precursor							148.0	149.0	149.0					X																	3239969		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239969A>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3757T>A	X.37:g.3239969A>T	ENSP00000217939:p.Ser1253Thr						p.S1253T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1253					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3757T>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.460842	0.01062	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61158	0.13	3.36	-1.87	0.07737	.	0.633271	0.13000	U	0.421728	T	0.34745	0.0908	L	0.29908	0.895	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.12372	-1.0550	10	0.25751	T	0.34	.	3.0448	0.06149	0.5062:0.0:0.2836:0.2102	.	1253	Q9NR99	MXRA5_HUMAN	T	1253	ENSP00000217939:S1253T	ENSP00000217939:S1253T	S	-	1	0	MXRA5	3249969	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.241000	0.18065	-0.176000	0.10707	0.356000	0.21956	TCC		0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		44	121	0	0	0	0.002222	0	44	121				
SHROOM2	357	broad.mit.edu	37	X	9863246	9863246	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:9863246G>A	ENST00000380913.3	+	4	1388	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	433					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCTATACAGCGACCACAGC	0.632																																							uc004csu.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1297-1299)AGC>AAC		apical protein of Xenopus-like							49.0	48.0	48.0					X																	9863246		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863246G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1298G>A	X.37:g.9863246G>A	ENSP00000370299:p.Ser433Asn						p.S433N	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	1388	+		Hepatocellular(5;0.000888)	433					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1298G>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166221	0.57476	.	.	ENSG00000146950	ENST00000380913	T	0.26373	1.74	4.44	4.44	0.53790	.	0.731059	0.13838	N	0.359248	T	0.45013	0.1321	L	0.54323	1.7	0.51012	D	0.999905	D	0.67145	0.996	P	0.62740	0.906	T	0.35251	-0.9796	10	0.54805	T	0.06	-16.2416	15.4206	0.75009	0.0:0.0:1.0:0.0	.	433	Q13796	SHRM2_HUMAN	N	433	ENSP00000370299:S433N	ENSP00000370299:S433N	S	+	2	0	SHROOM2	9823246	0.996000	0.38824	0.003000	0.11579	0.002000	0.02628	4.063000	0.57499	1.821000	0.53095	0.513000	0.50165	AGC		0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		20	43	0	0	0	0.002299	0	20	43				
OFD1	8481	broad.mit.edu	37	X	13764935	13764935	+	Missense_Mutation	SNP	A	A	G	rs398122866		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:13764935A>G	ENST00000340096.6	+	8	1018	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.K231E|OFD1_ENST00000398395.3_Missense_Mutation_p.K231E|OFD1_ENST00000380567.1_Missense_Mutation_p.K91E	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	231					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGCAAAAATTAAAATGGAAGC	0.299																																							uc004cvp.3		NA																	0					0						c.(691-693)AAA>GAA		oral-facial-digital syndrome 1							42.0	42.0	42.0					X																	13764935		2203	4297	6500	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764935A>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.691A>G	X.37:g.13764935A>G	ENSP00000344314:p.Lys231Glu					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.K91E|OFD1_uc010nen.2_Missense_Mutation_p.K230E|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.K230E|OFD1_uc004cvv.3_Missense_Mutation_p.K230E|OFD1_uc010neo.1_Missense_Mutation_p.K17E	p.K231E	NM_003611	NP_003602	O75665	OFD1_HUMAN			8	1050	+			231			Potential.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.691A>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	9.123	1.009427	0.19277	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.96774	-4.03;-3.79;-4.12;-1.95	5.32	4.13	0.48395	.	0.444500	0.27473	N	0.019208	D	0.91968	0.7456	L	0.46157	1.445	0.09310	N	1	B;P;P;B;P	0.37061	0.102;0.58;0.58;0.383;0.58	B;B;B;B;B	0.30251	0.074;0.113;0.104;0.095;0.113	D	0.85212	0.1021	10	0.49607	T	0.09	-6.9139	6.9708	0.24648	0.7889:0.0:0.0758:0.1353	.	94;231;231;91;231	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	E	231;231;231;91;94	ENSP00000369923:K231E;ENSP00000381432:K231E;ENSP00000344314:K231E;ENSP00000369941:K91E	ENSP00000344314:K231E	K	+	1	0	OFD1	13674856	1.000000	0.71417	0.002000	0.10522	0.401000	0.30781	4.169000	0.58223	0.658000	0.30925	0.441000	0.28932	AAA		0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		14	27	0	0	0	0.003163	0	14	27				
RPS6KA3	6197	broad.mit.edu	37	X	20212340	20212340	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:20212340C>A	ENST00000379565.3	-	6	660	c.453G>T	c.(451-453)agG>agT	p.R151S	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R123S|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R123S|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R122S	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	151	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	AATCTCCTCCCCTGAGAAAAT	0.299																																							uc004czu.2		NA																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(451-453)AGG>AGT		ribosomal protein S6 kinase, 90kDa, polypeptide							50.0	46.0	48.0					X																	20212340		2201	4298	6499	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20212340C>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.453G>T	X.37:g.20212340C>A	ENSP00000368884:p.Arg151Ser					RPS6KA3_uc011mjk.1_Missense_Mutation_p.R122S|RPS6KA3_uc004czv.2_Missense_Mutation_p.R139S|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R123S|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R123S	p.R151S	NM_004586	NP_004577	P51812	KS6A3_HUMAN			6	453	-			151			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.453G>T	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737643	0.49045	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;3.27	5.39	5.39	0.77823	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	0.23886	0.0578	N	0.02736	-0.51	0.80722	D	1	P;P;D;P	0.89917	0.708;0.7;1.0;0.932	B;P;D;P	0.91635	0.293;0.46;0.999;0.733	T	0.47129	-0.9141	10	0.24483	T	0.36	.	18.3818	0.90453	0.0:1.0:0.0:0.0	.	123;122;123;151	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	S	151;123;122;123;122;123	ENSP00000368884:R151S;ENSP00000440220:R123S;ENSP00000368865:R122S;ENSP00000444837:R123S;ENSP00000407655:R122S;ENSP00000388512:R123S	ENSP00000368865:R122S	R	-	3	2	RPS6KA3	20122261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.885000	0.56182	2.367000	0.80283	0.600000	0.82982	AGG		0.299	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		14	24	1	0	3.41278e-10	0.00499	5.4499e-10	14	24				
PHEX	5251	broad.mit.edu	37	X	22112188	22112188	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:22112188G>T	ENST00000379374.4	+	7	1385	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	PHEX_ENST00000537599.1_Missense_Mutation_p.V274L|PHEX_ENST00000535894.1_Missense_Mutation_p.V177L|PHEX_ENST00000475778.1_3'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	274					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CATGAAGTCAGTGCTCAGATT	0.388																																							uc004dah.2		NA																	0				ovary(2)|lung(1)	3						c.(820-822)GTG>TTG		phosphate-regulating neutral endopeptidase							126.0	114.0	118.0					X																	22112188		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112188G>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.820G>T	X.37:g.22112188G>T	ENSP00000368682:p.Val274Leu					PHEX_uc011mjr.1_Missense_Mutation_p.V274L|PHEX_uc011mjs.1_Missense_Mutation_p.V177L	p.V274L	NM_000444	NP_000435	P78562	PHEX_HUMAN			7	1023	+			274			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.820G>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252050	0.59212	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.77877	-1.13;-1.13;-1.13	5.47	5.47	0.80525	Peptidase M13 (1);	0.113412	0.64402	D	0.000011	T	0.72382	0.3453	L	0.48362	1.52	0.80722	D	1	B;B	0.19331	0.028;0.035	B;B	0.17433	0.011;0.018	T	0.69709	-0.5072	10	0.52906	T	0.07	.	14.0271	0.64592	0.0:0.147:0.853:0.0	.	274;274	F5GXU4;P78562	.;PHEX_HUMAN	L	274;274;177	ENSP00000368682:V274L;ENSP00000440362:V274L;ENSP00000439418:V177L	ENSP00000368682:V274L	V	+	1	0	PHEX	22022109	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.884000	0.56175	2.287000	0.76781	0.436000	0.28706	GTG		0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		20	42	1	0	1.56452e-12	0.007413	2.64963e-12	20	42				
MAGEB4	4115	broad.mit.edu	37	X	30260943	30260943	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:30260943G>T	ENST00000378982.2	+	1	887	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473																																							uc004dcb.2		NA																	0				ovary(1)	1						c.(691-693)GAT>TAT		melanoma antigen family B, 4							76.0	72.0	74.0					X																	30260943		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260943G>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.691G>T	X.37:g.30260943G>T	ENSP00000368266:p.Asp231Tyr					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.D231Y	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	775	+			231			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.691G>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656504	0.29425	.	.	ENSG00000120289	ENST00000378982	T	0.05319	3.46	3.31	1.44	0.22558	.	0.365804	0.22917	U	0.054080	T	0.25344	0.0616	M	0.92219	3.285	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07868	-1.0750	10	0.66056	D	0.02	.	3.927	0.09269	0.1458:0.2453:0.609:0.0	.	231	O15481	MAGB4_HUMAN	Y	231	ENSP00000368266:D231Y	ENSP00000368266:D231Y	D	+	1	0	MAGEB4	30170864	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.003000	0.12901	0.252000	0.21531	-0.192000	0.12808	GAT		0.473	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		21	63	1	0	2.37509e-13	0.001523	4.13716e-13	21	63				
FAM47A	158724	broad.mit.edu	37	X	34150261	34150261	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:34150261G>T	ENST00000346193.3	-	1	186	c.135C>A	c.(133-135)acC>acA	p.T45T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	45										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCAGTTCTGGGTGTCCATGG	0.577																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(133-135)ACC>ACA		hypothetical protein LOC158724							69.0	66.0	67.0					X																	34150261		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150261G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.135C>A	X.37:g.34150261G>T							p.T45T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	168	-			45					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.135C>A	CCDS43926.1																																																																																				0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		15	36	1	0	6.31663e-08	0.003163	9.24099e-08	15	36				
FAM47C	442444	broad.mit.edu	37	X	37026780	37026780	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:37026780G>C	ENST00000358047.3	+	1	349	c.297G>C	c.(295-297)aaG>aaC	p.K99N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	99										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCTGCTCAAGAAAGCGGCCC	0.532																																							uc004ddl.1		NA																	0				ovary(3)	3						c.(295-297)AAG>AAC		hypothetical protein LOC442444							88.0	84.0	86.0					X																	37026780		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026780G>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.297G>C	X.37:g.37026780G>C	ENSP00000367913:p.Lys99Asn						p.K99N	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	311	+			99					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.297G>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520950	0.27211	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.502	0.502	0.16932	.	.	.	.	.	T	0.40743	0.1129	M	0.80746	2.51	0.09310	N	1	D	0.56968	0.978	D	0.63488	0.915	T	0.13098	-1.0522	9	0.72032	D	0.01	.	6.651	0.22961	1.0E-4:0.0:0.9999:0.0	.	99	Q5HY64	FA47C_HUMAN	N	99	ENSP00000367913:K99N	ENSP00000367913:K99N	K	+	3	2	FAM47C	36936701	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	0.628000	0.24522	0.479000	0.27511	0.292000	0.19580	AAG		0.532	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		35	74	0	0	0	0.003271	0	35	74				
FAM47C	442444	broad.mit.edu	37	X	37027491	37027491	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:37027491G>T	ENST00000358047.3	+	1	1060	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	336								p.K336N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCAAGACTCTGGTGT	0.617																																							uc004ddl.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(1006-1008)AAG>AAT		hypothetical protein LOC442444							77.0	73.0	75.0					X																	37027491		2202	4299	6501	SO:0001583	missense	442444							g.chrX:37027491G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1008G>T	X.37:g.37027491G>T	ENSP00000367913:p.Lys336Asn						p.K336N	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1022	+			336					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1008G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	7.970	0.748842	0.15710	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.95	0.95	0.19572	.	.	.	.	.	T	0.32346	0.0826	M	0.63843	1.955	0.09310	N	1	D	0.63046	0.992	D	0.65874	0.939	T	0.21895	-1.0232	9	0.16420	T	0.52	.	5.1634	0.15073	0.0:0.3706:0.6294:0.0	.	336	Q5HY64	FA47C_HUMAN	N	336	ENSP00000367913:K336N	ENSP00000367913:K336N	K	+	3	2	FAM47C	36937412	0.004000	0.15560	0.012000	0.15200	0.012000	0.07955	0.850000	0.27737	0.177000	0.19895	0.179000	0.17066	AAG		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	55	1	0	3.6726e-16	0.003954	6.71062e-16	25	55				
SSX1	6756	broad.mit.edu	37	X	48125747	48125747	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:48125747G>C	ENST00000376919.3	+	7	628	c.492G>C	c.(490-492)tgG>tgC	p.W164C		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AACATGCCTGGACCCACAGAC	0.483			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1		NA		Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	0				soft_tissue(1169)	1169						c.(490-492)TGG>TGC		synovial sarcoma, X breakpoint 1							267.0	264.0	265.0					X																	48125747		1511	2706	4217	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125747G>C	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.492G>C	X.37:g.48125747G>C	ENSP00000366118:p.Trp164Cys						p.W164C	NM_005635	NP_005626	Q16384	SSX1_HUMAN			7	583	+			164					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.492G>C	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	9.993	1.231308	0.22626	.	.	ENSG00000126752	ENST00000376919	T	0.08458	3.09	2.39	1.5	0.22942	SSXRD motif (1);	0.715858	0.12219	N	0.488588	T	0.19087	0.0458	L	0.58101	1.795	0.09310	N	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.09773	-1.0659	10	0.48119	T	0.1	.	4.3873	0.11323	0.2045:0.0:0.7955:0.0	.	164	Q16384	SSX1_HUMAN	C	164	ENSP00000366118:W164C	ENSP00000366118:W164C	W	+	3	0	SSX1	48010691	0.059000	0.20769	0.002000	0.10522	0.050000	0.14768	0.926000	0.28804	0.443000	0.26582	0.380000	0.24917	TGG		0.483	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		10	298	0	0	0	0.000978	0	10	298				
CACNA1F	778	broad.mit.edu	37	X	49070315	49070315	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:49070315C>A	ENST00000376265.2	-	31	3850	c.3789G>T	c.(3787-3789)gtG>gtT	p.V1263V	CACNA1F_ENST00000323022.5_Silent_p.V1252V|CACNA1F_ENST00000376251.1_Silent_p.V1198V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1263					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTATGCTGCCCACCACAATAA	0.512																																							uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(3787-3789)GTG>GTT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						137.0	90.0	106.0					X																	49070315		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49070315C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3789G>T	X.37:g.49070315C>A						CACNA1F_uc010nip.2_Silent_p.V1252V	p.V1263V	NM_005183	NP_005174	O60840	CAC1F_HUMAN			31	3851	-			1263			IV.|Helical; Name=S3 of repeat IV; (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3789G>T	CCDS35253.1																																																																																				0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		11	28	1	0	1.58986e-06	0.008291	2.20122e-06	11	28				
DGKK	139189	broad.mit.edu	37	X	50136178	50136178	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:50136178C>A	ENST00000376025.2	-	0	1626							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCAATAAGTCGAACACTTGA	0.433																																							uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(1567-1569)GAC>TAC		diacylglycerol kinase kappa							65.0	58.0	60.0					X																	50136178		1965	4133	6098			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136178C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136178C>A							p.D523Y	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			9	1627	-	Ovarian(276;0.236)		523			DAGKc.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.1567G>T																																																																																					0.433	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		4	13	1	0	1.024e-07	0.000602	1.49157e-07	4	13				
GPR173	54328	broad.mit.edu	37	X	53106005	53106005	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:53106005G>T	ENST00000332582.4	+	2	693	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	68					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.D68Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCCTGGCCGATGGCATACG	0.602																																							uc004dru.2		NA																	2	Substitution - Missense(2)		prostate(2)	skin(1)	1						c.(202-204)GAT>TAT		G protein-coupled receptor 173							121.0	87.0	98.0					X																	53106005		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106005G>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.202G>T	X.37:g.53106005G>T	ENSP00000331600:p.Asp68Tyr						p.D68Y	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	460	+			68			Helical; Name=2; (Potential).		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.202G>T	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487295	0.63962	.	.	ENSG00000184194	ENST00000332582	D	0.88896	-2.44	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95358	0.8453	10	0.87932	D	0	-7.3366	13.3442	0.60561	0.0:0.0:1.0:0.0	.	68	Q9NS66	GP173_HUMAN	Y	68	ENSP00000331600:D68Y	ENSP00000331600:D68Y	D	+	1	0	GPR173	53122730	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	9.657000	0.98554	2.006000	0.58801	0.529000	0.55759	GAT		0.602	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		22	45	1	0	4.35082e-09	0.001523	6.72399e-09	22	45				
FAM120C	54954	broad.mit.edu	37	X	54161374	54161374	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:54161374A>G	ENST00000375180.2	-	7	1562	c.1506T>C	c.(1504-1506)tcT>tcC	p.S502S	FAM120C_ENST00000328235.4_Silent_p.S502S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	502							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACTGGGATGCAGAAGAGTCAT	0.517																																							uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1504-1506)TCT>TCC		hypothetical protein LOC54954							85.0	71.0	75.0					X																	54161374		2203	4300	6503	SO:0001819	synonymous_variant	54954							g.chrX:54161374A>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1506T>C	X.37:g.54161374A>G						FAM120C_uc011moh.1_Silent_p.S502S	p.S502S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			7	1589	-			502					B2RMT7	Silent	SNP	ENST00000375180.2	37	c.1506T>C	CCDS14356.1																																																																																				0.517	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		13	28	0	0	0	0.001855	0	13	28				
FGD1	2245	broad.mit.edu	37	X	54497780	54497780	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:54497780G>T	ENST00000375135.3	-	2	1181	c.448C>A	c.(448-450)Cca>Aca	p.P150T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	150	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGCTTCAGTGGTGAAGGACGC	0.627																																							uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(448-450)CCA>ACA		faciogenital dysplasia protein							48.0	49.0	49.0					X																	54497780		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497780G>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.448C>A	X.37:g.54497780G>T	ENSP00000364277:p.Pro150Thr					FGD1_uc011moi.1_5'Flank	p.P150T	NM_004463	NP_004454	P98174	FGD1_HUMAN			2	1182	-			150			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.448C>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936693	0.73442	.	.	ENSG00000102302	ENST00000375135	T	0.69685	-0.42	4.88	4.88	0.63580	.	0.000000	0.52532	D	0.000078	T	0.63379	0.2506	N	0.03608	-0.345	0.40450	D	0.980135	D	0.89917	1.0	D	0.79108	0.992	T	0.74147	-0.3759	10	0.59425	D	0.04	-21.715	14.7721	0.69688	0.0:0.0:1.0:0.0	.	150	P98174	FGD1_HUMAN	T	150	ENSP00000364277:P150T	ENSP00000364277:P150T	P	-	1	0	FGD1	54514505	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	4.085000	0.57657	2.159000	0.67721	0.436000	0.28706	CCA		0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		19	43	1	0	5.26018e-13	0.001882	9.08023e-13	19	43				
LAS1L	81887	broad.mit.edu	37	X	64734730	64734730	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:64734730C>A	ENST00000374811.3	-	13	2091	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.R667L|LAS1L_ENST00000374804.5_Missense_Mutation_p.R625L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	684					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGGTTCCAGCCGCTGCTCTAG	0.557																																							uc004dwa.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(2050-2052)CGG>CTG		LAS1-like							68.0	51.0	57.0					X																	64734730		2203	4297	6500	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64734730C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.2051G>T	X.37:g.64734730C>A	ENSP00000363944:p.Arg684Leu					LAS1L_uc004dwc.1_Missense_Mutation_p.R667L|LAS1L_uc004dwd.1_Missense_Mutation_p.R625L|LAS1L_uc004dvy.1_Missense_Mutation_p.R197L|LAS1L_uc004dvz.1_Missense_Mutation_p.R197L	p.R684L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			13	2123	-			684					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.2051G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	c	14.88	2.668272	0.47677	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.15	4.15	0.48705	.	0.564579	0.16130	N	0.228251	T	0.74718	0.3753	L	0.60455	1.87	0.80722	D	1	D;P;D;D	0.89917	0.993;0.51;0.988;1.0	P;B;P;D	0.81914	0.894;0.183;0.787;0.995	T	0.76239	-0.3032	9	0.72032	D	0.01	.	12.7689	0.57408	0.0:1.0:0.0:0.0	.	625;667;684;197	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	L	667;684;625	.	ENSP00000363937:R625L	R	-	2	0	LAS1L	64651455	0.941000	0.31946	0.997000	0.53966	0.975000	0.68041	2.674000	0.46867	1.820000	0.53075	0.425000	0.28330	CGG		0.557	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	9	1	0	3.59834e-05	0.001168	4.57629e-05	6	9				
MSN	4478	broad.mit.edu	37	X	64949300	64949300	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:64949300G>C	ENST00000360270.5	+	4	365	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	65	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTCTTCCCAGGTGACTGCCCA	0.478			T	ALK	ALCL																																		uc004dwf.2		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(193-195)GTG>CTG		moesin							92.0	84.0	87.0					X																	64949300		2203	4300	6503	SO:0001630	splice_region_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949300G>C	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.193-1G>C	X.37:g.64949300G>C							p.V65L	NM_002444	NP_002435	P26038	MOES_HUMAN			4	391	+			65			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.193G>C	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648017	0.87958	.	.	ENSG00000147065	ENST00000360270	T	0.66280	-0.2	5.98	5.98	0.97165	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.75447	2.3	0.80722	D	1	P	0.49696	0.927	P	0.50617	0.646	T	0.73310	-0.4023	9	.	.	.	.	17.7929	0.88561	0.0:0.0:1.0:0.0	.	65	P26038	MOES_HUMAN	L	65	ENSP00000353408:V65L	.	V	+	1	0	MSN	64866025	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.760000	0.98935	2.532000	0.85374	0.594000	0.82650	GTG		0.478	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	Missense_Mutation	14	70	0	0	0	0.004007	0	14	70				
EDA2R	60401	broad.mit.edu	37	X	65819692	65819692	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:65819692C>A	ENST00000374719.3	-	6	584	c.528G>T	c.(526-528)ctG>ctT	p.L176L	EDA2R_ENST00000253392.5_Silent_p.L197L|EDA2R_ENST00000451436.2_Silent_p.L52L|EDA2R_ENST00000450752.1_Silent_p.L197L|EDA2R_ENST00000456230.2_Silent_p.L176L|EDA2R_ENST00000396050.1_Silent_p.L176L	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	176					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCAAACTGCAGCAAACCTC	0.522																																							uc004dwq.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(526-528)CTG>CTT		X-linked ectodysplasin receptor							47.0	25.0	32.0					X																	65819692		2199	4297	6496	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819692C>A	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.528G>T	X.37:g.65819692C>A						EDA2R_uc004dwr.2_Silent_p.L176L|EDA2R_uc004dws.2_Silent_p.L176L|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Silent_p.L52L|EDA2R_uc010nkt.1_Silent_p.L176L|EDA2R_uc004dwt.1_Silent_p.L197L	p.L176L	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN			5	539	-			176			Cytoplasmic (Potential).		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.528G>T	CCDS14386.1																																																																																				0.522	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		12	16	1	0	1.05317e-09	0.00245	1.65622e-09	12	16				
AR	367	broad.mit.edu	37	X	66937402	66937402	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:66937402G>C	ENST00000374690.3	+	5	2780	c.2256G>C	c.(2254-2256)tgG>tgC	p.W752C	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Missense_Mutation_p.W220C	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	751	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		R -> Q (in AIS). {ECO:0000269|PubMed:9544375, ECO:0000269|PubMed:9698822}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CCATGGGCTGGCGATCCTTCA	0.532									Androgen Insensitivity Syndrome																														uc004dwu.1		NA																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	GRCh37	CM993917	AR	M		c.(2254-2256)TGG>TGC		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						146.0	101.0	116.0					X																	66937402		2203	4300	6503	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66937402G>C	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2256G>C	X.37:g.66937402G>C	ENSP00000363822:p.Trp752Cys					AR_uc004dwv.1_Missense_Mutation_p.W220C	p.W752C	NM_000044	NP_000035	P10275	ANDR_HUMAN			5	3371	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	751		W -> R (in AIS).	Ligand-binding.|Interaction with MYST2.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.2256G>C	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.997460	0.74818	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99771	-6.71;-6.71	4.99	4.99	0.66335	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96898	0.9658	10	0.87932	D	0	.	14.5346	0.67950	0.0:0.0:1.0:0.0	.	220;751	F1D8N5;P10275	.;ANDR_HUMAN	C	562;752;220	ENSP00000363822:W752C;ENSP00000379358:W220C	ENSP00000363822:W752C	W	+	3	0	AR	66854127	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.626000	0.98410	2.306000	0.77630	0.597000	0.82753	TGG		0.532	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		11	34	0	0	0	0.001368	0	11	34				
NLGN3	54413	broad.mit.edu	37	X	70387517	70387517	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:70387517G>T	ENST00000358741.3	+	7	1873	c.1570G>T	c.(1570-1572)Ggg>Tgg	p.G524W	NLGN3_ENST00000374051.3_Missense_Mutation_p.G504W|NLGN3_ENST00000536169.1_Missense_Mutation_p.G484W|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	524					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGCAGCTCATGGGGATGAAGT	0.527																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzd.1		NA																	0				ovary(1)	1						c.(1570-1572)GGG>TGG		neuroligin 3							165.0	133.0	144.0					X																	70387517		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70387517G>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1570G>T	X.37:g.70387517G>T	ENSP00000351591:p.Gly524Trp					NLGN3_uc010nlb.1_Missense_Mutation_p.G484W|NLGN3_uc004dzb.2_Missense_Mutation_p.G504W|NLGN3_uc004dzc.2_Missense_Mutation_p.G387W|NLGN3_uc011mps.1_Missense_Mutation_p.G484W|NLGN3_uc004dze.2_Missense_Mutation_p.G322W	p.G524W	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			6	1770	+	Renal(35;0.156)		524			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1570G>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773582	0.69992	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.66	4.66	0.58398	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96489	3.83	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	0.92973	0.6399	10	0.87932	D	0	.	16.8866	0.86077	0.0:0.0:1.0:0.0	.	484;524;504	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	W	484;504;484;524	ENSP00000445298:G484W;ENSP00000363163:G504W;ENSP00000379196:G484W;ENSP00000351591:G524W	ENSP00000351591:G524W	G	+	1	0	NLGN3	70304242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.163000	0.67991	0.508000	0.49915	GGG		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		20	87	1	0	8.34094e-07	0.001216	1.16323e-06	20	87				
RGAG4	340526	broad.mit.edu	37	X	71351060	71351060	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:71351060G>C	ENST00000545866.1	-	1	698	c.331C>G	c.(331-333)Cgc>Ggc	p.R111G	NHSL2_ENST00000373677.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.R111G|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	111										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGGTGCTGCGATCCTGGATC	0.692																																							uc010nlh.1		NA																	0				ovary(2)|skin(1)	3						c.(331-333)CGC>GGC		retrotransposon gag domain containing 4							14.0	17.0	16.0					X																	71351060		1891	4078	5969	SO:0001583	missense	340526							g.chrX:71351060G>C	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.331C>G	X.37:g.71351060G>C	ENSP00000441366:p.Arg111Gly					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	p.R111G	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	692	-	Renal(35;0.156)		111					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.331C>G	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	6.101	0.386970	0.11581	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.11930	2.73;2.73	4.32	1.75	0.24633	.	.	.	.	.	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.23490	0.086	B	0.19148	0.024	T	0.43426	-0.9392	8	.	.	.	0.0312	5.2847	0.15694	0.7586:0.0:0.2414:0.0	.	111	Q5HYW3	RGAG4_HUMAN	G	111	ENSP00000441366:R111G;ENSP00000418667:R111G	.	R	-	1	0	RGAG4	71267785	0.080000	0.21391	0.001000	0.08648	0.780000	0.44128	0.546000	0.23284	0.276000	0.22118	-0.354000	0.07668	CGC		0.692	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		3	11	0	0	0	0.004672	0	3	11				
NAP1L2	4674	broad.mit.edu	37	X	72433573	72433573	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:72433573A>T	ENST00000373517.3	-	1	1111	c.756T>A	c.(754-756)gaT>gaA	p.D252E	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D110E	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	252					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GAGTGAGTGTATCAACGTTTT	0.408																																							uc004ebi.2		NA																	0				lung(1)	1						c.(754-756)GAT>GAA		nucleosome assembly protein 1-like 2							57.0	51.0	53.0					X																	72433573		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433573A>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.756T>A	X.37:g.72433573A>T	ENSP00000362616:p.Asp252Glu					NAP1L2_uc011mqj.1_Missense_Mutation_p.D110E	p.D252E	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1112	-	Renal(35;0.156)		252					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.756T>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	a	6.413	0.444244	0.12164	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.23754	1.89;1.89	2.99	-1.66	0.08265	.	0.050956	0.85682	N	0.000000	T	0.09730	0.0239	N	0.16478	0.41	0.09310	N	0.999998	B	0.14438	0.01	B	0.15484	0.013	T	0.31251	-0.9950	10	0.09338	T	0.73	-8.9303	3.9968	0.09561	0.5586:0.0:0.2278:0.2136	.	252	Q9ULW6	NP1L2_HUMAN	E	252;110	ENSP00000362616:D252E;ENSP00000441555:D110E	ENSP00000362616:D252E	D	-	3	2	NAP1L2	72350298	0.368000	0.25031	0.467000	0.27180	0.719000	0.41307	0.118000	0.15605	-0.546000	0.06216	-0.549000	0.04216	GAT		0.408	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		4	46	0	0	0	0.000602	0	4	46				
KIAA2022	340533	broad.mit.edu	37	X	73962851	73962851	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:73962851C>A	ENST00000055682.6	-	3	2152	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	514					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCTTTGGAACCAACTGGCAG	0.398																																							uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1540-1542)GGT>GTT		hypothetical protein LOC340533							64.0	59.0	61.0					X																	73962851		2201	4293	6494	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962851C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1541G>T	X.37:g.73962851C>A	ENSP00000055682:p.Gly514Val						p.G514V	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2158	-			514					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1541G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388105	0.61956	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.35605	1.3;1.3	6.03	6.03	0.97812	.	0.202351	0.52532	D	0.000077	T	0.54095	0.1837	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	T	0.51100	-0.8748	10	0.56958	D	0.05	-2.4697	19.4774	0.94994	0.0:1.0:0.0:0.0	.	514	Q5QGS0	K2022_HUMAN	V	514	ENSP00000362567:G514V;ENSP00000055682:G514V	ENSP00000055682:G514V	G	-	2	0	KIAA2022	73879576	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	4.612000	0.61169	2.554000	0.86153	0.600000	0.82982	GGT		0.398	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		10	26	1	0	1.58986e-06	0.008291	2.20122e-06	10	26				
MAGEE2	139599	broad.mit.edu	37	X	75003786	75003786	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:75003786A>T	ENST00000373359.2	-	1	1293	c.1101T>A	c.(1099-1101)tcT>tcA	p.S367S		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	367	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCAATCAGAGACAACCCAT	0.458																																							uc004ecj.1		NA																	0				ovary(1)|skin(1)	2						c.(1099-1101)TCT>TCA		melanoma antigen family E, 2							94.0	77.0	83.0					X																	75003786		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75003786A>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1101T>A	X.37:g.75003786A>T							p.S367S	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1286	-			367			MAGE 2.		Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.1101T>A	CCDS14431.1																																																																																				0.458	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		17	50	0	0	0	0.00499	0	17	50				
ZCCHC5	203430	broad.mit.edu	37	X	77913554	77913554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:77913554C>A	ENST00000321110.1	-	2	659	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	122	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCTGGGACTCCCGGGTTGCT	0.627																																							uc004edc.1		NA																	0				ovary(1)	1						c.(364-366)GAG>TAG		zinc finger, CCHC domain containing 5							29.0	32.0	31.0					X																	77913554		2203	4296	6499	SO:0001587	stop_gained	203430						nucleic acid binding|zinc ion binding	g.chrX:77913554C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.364G>T	X.37:g.77913554C>A	ENSP00000316794:p.Glu122*						p.E122*	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	660	-			122			Pro-rich.		B2RMZ0|Q5JQE9	Nonsense_Mutation	SNP	ENST00000321110.1	37	c.364G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719848	0.89205	.	.	ENSG00000179300	ENST00000321110	.	.	.	3.05	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.0563	0.25102	0.0:0.8485:0.0:0.1515	.	.	.	.	X	122	.	ENSP00000316794:E122X	E	-	1	0	ZCCHC5	77800210	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.284000	0.08422	0.649000	0.30751	0.370000	0.22315	GAG		0.627	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	10	1	0	0.000274275	0.004482	0.000331549	9	10				
TGIF2LX	90316	broad.mit.edu	37	X	89177312	89177312	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:89177312C>A	ENST00000561129.2	+	1	358	c.228C>A	c.(226-228)gcC>gcA	p.A76A	TGIF2LX_ENST00000283891.5_Silent_p.A76A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGTTTAAGGCCTACCCTTCAG	0.468																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(226-228)GCC>GCA		TGFB-induced factor homeobox 2-like, X-linked							84.0	75.0	78.0					X																	89177312		2202	4297	6499	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177312C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.228C>A	X.37:g.89177312C>A							p.A76A	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	277	+			76			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.228C>A	CCDS14459.1																																																																																				0.468	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		22	57	1	0	3.11337e-16	0.002836	5.71211e-16	22	57				
ARMCX2	9823	broad.mit.edu	37	X	100910689	100910689	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:100910689A>G	ENST00000328766.5	-	5	2339	c.1886T>C	c.(1885-1887)gTg>gCg	p.V629A	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.V629A|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V629A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	629						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAATTTGTTCACTAGTTTTAT	0.343																																							uc004eid.2		NA																	0				ovary(6)	6						c.(1885-1887)GTG>GCG		ALEX2 protein							72.0	67.0	69.0					X																	100910689		2203	4299	6502	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100910689A>G	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1886T>C	X.37:g.100910689A>G	ENSP00000331662:p.Val629Ala					ARMCX2_uc004eie.3_Missense_Mutation_p.V629A|ARMCX2_uc004eif.3_Missense_Mutation_p.V629A|ARMCX2_uc004eig.3_Missense_Mutation_p.V629A|ARMCX2_uc010nnt.2_Missense_Mutation_p.V629A	p.V629A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	2241	-			629					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1886T>C	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706759	0.30232	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.36520	1.25;1.25;1.25	3.99	3.99	0.46301	Armadillo-like helical (1);	0.515995	0.20900	N	0.083646	T	0.34279	0.0892	N	0.08118	0	0.32241	N	0.572673	D	0.58970	0.984	D	0.65443	0.935	T	0.43861	-0.9365	10	0.87932	D	0	-11.1934	8.3385	0.32230	1.0:0.0:0.0:0.0	.	629	Q7L311	ARMX2_HUMAN	A	629	ENSP00000331662:V629A;ENSP00000328631:V629A;ENSP00000349281:V629A	ENSP00000331662:V629A	V	-	2	0	ARMCX2	100797345	0.998000	0.40836	0.999000	0.59377	0.934000	0.57294	3.949000	0.56668	1.788000	0.52465	0.345000	0.21793	GTG		0.343	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		15	67	0	0	0	0.003163	0	15	67				
NXF5	55998	broad.mit.edu	37	X	101096947	101096947	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:101096947T>A	ENST00000361708.2	-	4	411		c.e4-2		NXF5_ENST00000537026.1_Splice_Site|NXF5_ENST00000473265.2_Splice_Site			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATAAGGAATCTAAGCATAAAA	0.398																																							uc011mrk.1		NA																	0				central_nervous_system(1)	1						c.e4-1		nuclear RNA export factor 5							123.0	106.0	112.0					X																	101096947		2203	4300	6503	SO:0001630	splice_region_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096947T>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.52-2A>T	X.37:g.101096947T>A						NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	p.I18_splice	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			4	412	-								A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Splice_Site	SNP	ENST00000361708.2	37	c.52_splice		.	.	.	.	.	.	.	.	.	.	t	9.967	1.224323	0.22457	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	.	.	.	2.18	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8032	0.18426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF5	100983603	1.000000	0.71417	0.056000	0.19401	0.089000	0.18198	6.250000	0.72435	1.153000	0.42468	0.328000	0.21473	.		0.398	NXF5-201	KNOWN	basic	protein_coding	protein_coding			Intron	38	62	0	0	0	0.003755	0	38	62				
H2BFWT	158983	broad.mit.edu	37	X	103267967	103267967	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:103267967A>T	ENST00000217926.5	-	1	292	c.266T>A	c.(265-267)cTg>cAg	p.L89Q	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	89						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AACCTGCTTCAGCACCCGGCG	0.627																																							uc004elr.2		NA																	0				ovary(1)	1						c.(265-267)CTG>CAG		H2B histone family, member W, testis-specific							47.0	43.0	45.0					X																	103267967		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267967A>T	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.266T>A	X.37:g.103267967A>T	ENSP00000354723:p.Leu89Gln						p.L89Q	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	290	-			89					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.266T>A	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	17.39	3.377489	0.61735	.	.	ENSG00000123569	ENST00000217926	T	0.70869	-0.52	2.84	2.84	0.33178	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83644	0.5299	M	0.89414	3.03	0.47737	D	0.9995	D	0.89917	1.0	D	0.77004	0.989	D	0.84711	0.0734	9	0.87932	D	0	.	8.6123	0.33811	1.0:0.0:0.0:0.0	.	89	Q7Z2G1	H2BWT_HUMAN	Q	89	ENSP00000354723:L89Q	ENSP00000354723:L89Q	L	-	2	0	H2BFWT	103154623	1.000000	0.71417	0.014000	0.15608	0.011000	0.07611	7.281000	0.78621	1.376000	0.46267	0.486000	0.48141	CTG		0.627	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		6	40	0	0	0	0.001984	0	6	40				
COL4A6	1288	broad.mit.edu	37	X	107407909	107407909	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:107407909G>A	ENST00000372216.4	-	40	4093	c.3993C>T	c.(3991-3993)ggC>ggT	p.G1331G	COL4A6_ENST00000545689.1_Silent_p.G1306G|COL4A6_ENST00000394872.2_Silent_p.G1331G|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000334504.7_Silent_p.G1330G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1331	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCCCATGAAGCCAGGCTCAC	0.597									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3991-3993)GGC>GGT		type IV alpha 6 collagen isoform A precursor							105.0	99.0	101.0					X																	107407909		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107407909G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3993C>T	X.37:g.107407909G>A						COL4A6_uc004env.3_Silent_p.G1330G|COL4A6_uc011msn.1_Silent_p.G1306G|COL4A6_uc010npk.2_Intron|COL4A6_uc010npj.2_5'Flank	p.G1331G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			40	4096	-			1331			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3993C>T	CCDS14541.1																																																																																				0.597	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			23	36	0	0	0	0.00278	0	23	36				
CAPN6	827	broad.mit.edu	37	X	110490691	110490691	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:110490691C>A	ENST00000324068.1	-	12	1815	c.1648G>T	c.(1648-1650)Gtc>Ttc	p.V550F	CAPN6_ENST00000541758.1_Missense_Mutation_p.V295F	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	550	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGAGAACGGACTTCCTCCTTT	0.393																																							uc004epc.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1648-1650)GTC>TTC		calpain 6							144.0	122.0	130.0					X																	110490691		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110490691C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1648G>T	X.37:g.110490691C>A	ENSP00000317214:p.Val550Phe					CAPN6_uc011msu.1_Missense_Mutation_p.V295F	p.V550F	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			12	1816	-			550			C2.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1648G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398745	0.83120	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.69175	-0.38;-0.38	4.99	4.99	0.66335	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.827636	0.10808	N	0.631877	T	0.78168	0.4241	M	0.69523	2.12	0.58432	D	0.999995	D	0.59767	0.986	P	0.61328	0.887	T	0.76307	-0.3007	10	0.87932	D	0	.	9.7844	0.40666	0.0:0.9026:0.0:0.0974	.	550	Q9Y6Q1	CAN6_HUMAN	F	550;295	ENSP00000317214:V550F;ENSP00000441736:V295F	ENSP00000317214:V550F	V	-	1	0	CAPN6	110377347	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.356000	0.52269	2.308000	0.77769	0.517000	0.50305	GTC		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			23	60	1	0	2.89027e-11	0.002299	4.77445e-11	23	60				
TENM1	10178	broad.mit.edu	37	X	123838989	123838989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:123838989G>A	ENST00000371130.3	-	5	952	c.889C>T	c.(889-891)Cga>Tga	p.R297*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.R297*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	297	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAGGTGCTTCGAGGAAGAGGC	0.522																																							uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(889-891)CGA>TGA		odz, odd Oz/ten-m homolog 1 isoform 3							147.0	137.0	140.0					X																	123838989		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123838989G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.889C>T	X.37:g.123838989G>A	ENSP00000360171:p.Arg297*					ODZ1_uc011muj.1_Nonsense_Mutation_p.R297*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.R297*	p.R297*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			5	953	-			297			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.889C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	37	6.355037	0.97498	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.69	2.64	0.31445	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8377	0.63419	0.0:0.0:0.5825:0.4174	.	.	.	.	X	297	.	ENSP00000360171:R297X	R	-	1	2	ODZ1	123666670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.763000	0.47605	1.137000	0.42214	0.523000	0.50628	CGA		0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		10	149	0	0	0	0.008291	0	10	149				
TENM1	10178	broad.mit.edu	37	X	123839041	123839041	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:123839041G>T	ENST00000371130.3	-	5	900	c.837C>A	c.(835-837)aaC>aaA	p.N279K	TENM1_ENST00000422452.2_Missense_Mutation_p.N279K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	279	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCAGAGGGTAGTTCTGACTGG	0.483																																							uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(835-837)AAC>AAA		odz, odd Oz/ten-m homolog 1 isoform 3							119.0	106.0	111.0					X																	123839041		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123839041G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.837C>A	X.37:g.123839041G>T	ENSP00000360171:p.Asn279Lys					ODZ1_uc011muj.1_Missense_Mutation_p.N279K|ODZ1_uc010nqy.2_Missense_Mutation_p.N279K	p.N279K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			5	901	-			279			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.837C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332623	0.60853	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28895	1.59;1.59	5.69	4.64	0.57946	Teneurin intracellular, N-terminal (2);	0.124662	0.56097	D	0.000036	T	0.34019	0.0883	L	0.36672	1.1	0.45607	D	0.998546	P;P;D	0.54601	0.951;0.951;0.967	P;P;P	0.52758	0.708;0.708;0.702	T	0.07462	-1.0771	10	0.72032	D	0.01	.	10.0957	0.42473	0.0865:0.1381:0.7754:0.0	.	279;279;279	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	279	ENSP00000360171:N279K;ENSP00000403954:N279K	ENSP00000360171:N279K	N	-	3	2	ODZ1	123666722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.669000	0.46825	2.384000	0.81235	0.523000	0.50628	AAC		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		34	84	1	0	3.67414e-24	0.002445	7.19296e-24	34	84				
OCRL	4952	broad.mit.edu	37	X	128692884	128692884	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:128692884T>C	ENST00000371113.4	+	8	793	c.628T>C	c.(628-630)Ttt>Ctt	p.F210L	OCRL_ENST00000357121.5_Missense_Mutation_p.F210L|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	210					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCGGAAGCTCTTTGTACCAAA	0.428																																							uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.(628-630)TTT>CTT		phosphatidylinositol polyphosphate 5-phosphatase							116.0	111.0	113.0					X																	128692884		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692884T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.628T>C	X.37:g.128692884T>C	ENSP00000360154:p.Phe210Leu					OCRL_uc004eur.2_Missense_Mutation_p.F210L	p.F210L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			8	793	+			210					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.628T>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166704	0.38217	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.93859	-3.3;-3.3	5.59	4.4	0.53042	.	0.324941	0.34484	N	0.003932	D	0.87724	0.6249	L	0.44542	1.39	0.24777	N	0.99284	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.002	T	0.70806	-0.4772	10	0.08179	T	0.78	.	10.0893	0.42436	0.0:0.0814:0.0:0.9186	.	210;210	Q01968-2;Q01968	.;OCRL_HUMAN	L	210	ENSP00000360154:F210L;ENSP00000349635:F210L	ENSP00000349635:F210L	F	+	1	0	OCRL	128520565	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.569000	0.60865	1.864000	0.54056	0.481000	0.45027	TTT		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		20	46	0	0	0	0.001882	0	20	46				
FGF13	2258	broad.mit.edu	37	X	137715014	137715014	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:137715014C>A	ENST00000315930.6	-	5	1396	c.735G>T	c.(733-735)acG>acT	p.T245T	FGF13_ENST00000541469.1_Silent_p.T199T|FGF13_ENST00000305414.4_Silent_p.T192T|FGF13_ENST00000370603.3_Silent_p.T255T|FGF13_ENST00000441825.2_Silent_p.T226T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	245					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.T245T(1)|p.T192T(1)|p.T255T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGGCTACGTTGATTCAT	0.502																																							uc004fam.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(733-735)ACG>ACT		fibroblast growth factor 13 isoform 1							249.0	194.0	213.0					X																	137715014		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715014C>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.735G>T	X.37:g.137715014C>A						FGF13_uc004fan.2_Silent_p.T192T|FGF13_uc011mwi.1_Silent_p.T226T|FGF13_uc004faq.2_Silent_p.T255T|FGF13_uc004far.2_Silent_p.T226T|FGF13_uc011mwj.1_Silent_p.T255T|FGF13_uc011mwk.1_Silent_p.T199T	p.T245T	NM_004114	NP_004105	Q92913	FGF13_HUMAN			5	1397	-	Acute lymphoblastic leukemia(192;0.000127)		245					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.735G>T	CCDS14665.1																																																																																				0.502	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		50	120	1	0	4.29476e-34	0.00361	8.59592e-34	50	120				
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:142718335C>A	ENST00000381779.4	-	2	815	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V	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	197						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)					TTCCAGAACCCCGATATAAGG	0.438																																							uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(589-591)GGG>GTG		slit and trk like 4 protein precursor							79.0	76.0	77.0					X																	142718335		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718335C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.590G>T	X.37:g.142718335C>A	ENSP00000371198:p.Gly197Val					SLITRK4_uc004fby.2_Missense_Mutation_p.G197V	p.G197V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	966	-	Acute lymphoblastic leukemia(192;6.56e-05)		197			Extracellular (Potential).|LRR 6.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.590G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384825	0.61956	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54866	0.55;0.55;0.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79624	-0.1726	10	0.87932	D	0	-6.8478	17.0529	0.86524	0.0:1.0:0.0:0.0	.	197	Q8IW52	SLIK4_HUMAN	V	197	ENSP00000371198:G197V;ENSP00000349400:G197V;ENSP00000336627:G197V	ENSP00000336627:G197V	G	-	2	0	SLITRK4	142546001	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.347000	0.79759	0.600000	0.82982	GGG		0.438	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		26	48	1	0	1.85244e-09	0.00333	2.88946e-09	26	48				
TREX2	11219	broad.mit.edu	37	X	152710395	152710395	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:152710395C>A	ENST00000334497.2	-	11	1764	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TREX2_ENST00000338525.2_Missense_Mutation_p.R165L|TREX2_ENST00000330912.2_Missense_Mutation_p.R165L|TREX2_ENST00000402951.1_Missense_Mutation_p.R208L|TREX2_ENST00000393862.2_Missense_Mutation_p.R165L|TREX2_ENST00000370232.1_Missense_Mutation_p.R208L|TREX2_ENST00000370231.2_Missense_Mutation_p.R165L|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000414588.1_Missense_Mutation_p.R207L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	208					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCGGCCCCGGGCCCGGGT	0.756								Editing and processing nucleases																															uc010nue.1		NA																	0				large_intestine(1)	1						c.(619-621)CGG>CTG	Editing_and_processing_nucleases	three prime repair exonuclease 2							7.0	9.0	8.0					X																	152710395		2129	4179	6308	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710395C>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.623G>T	X.37:g.152710395C>A	ENSP00000334993:p.Arg208Leu					TREX2_uc010nud.1_Missense_Mutation_p.R165L|TREX2_uc011myp.1_Missense_Mutation_p.R165L|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	p.R207L	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			3	736	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		208					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.620G>T		.	.	.	.	.	.	.	.	.	.	C	4.684	0.127229	0.08981	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.89	3.73	0.42828	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.905125	0.08929	U	0.873214	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	0.999992	B;B	0.27732	0.187;0.002	B;B	0.23716	0.048;0.001	T	0.27123	-1.0083	10	0.07990	T	0.79	-5.4896	7.4456	0.27209	0.0:0.1097:0.0:0.8903	.	207;208	Q06S70;Q9BQ50	.;TREX2_HUMAN	L	165;165;165;208;208;208;207;165	ENSP00000377442:R165L;ENSP00000333441:R165L;ENSP00000345218:R165L;ENSP00000334993:R208L;ENSP00000359252:R208L;ENSP00000386078:R208L;ENSP00000401692:R207L;ENSP00000359251:R165L	ENSP00000333441:R165L	R	-	2	0	TREX2	152363589	0.901000	0.30685	0.777000	0.31699	0.026000	0.11368	1.279000	0.33191	0.559000	0.29153	-0.374000	0.07098	CGG		0.756	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		3	11	1	0	0.004672	0.004672	0.00538583	3	11				
GAB3	139716	broad.mit.edu	37	X	153941501	153941501	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:153941501C>G	ENST00000369575.3	-	3	605	c.574G>C	c.(574-576)Gga>Cga	p.G192R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.G193R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	192					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAGTCTTCCAGTCTCGCAG	0.517																																							uc004fmj.1		NA																	0				ovary(1)	1						c.(574-576)GGA>CGA		Gab3 protein isoform 2							151.0	130.0	137.0					X																	153941501		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153941501C>G	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.574G>C	X.37:g.153941501C>G	ENSP00000358588:p.Gly192Arg					GAB3_uc004fmk.1_Missense_Mutation_p.G193R|GAB3_uc010nve.1_Missense_Mutation_p.G193R|GAB3_uc004fml.1_5'UTR	p.G192R	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			3	622	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		192					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.574G>C	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674480	0.29693	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.21361	2.01;2.01;2.01	5.12	4.05	0.47172	.	0.213426	0.47455	N	0.000225	T	0.20333	0.0489	M	0.66506	2.035	0.58432	D	0.99999	P;P;P	0.35050	0.482;0.482;0.482	B;B;B	0.30029	0.11;0.11;0.11	T	0.03315	-1.1049	10	0.31617	T	0.26	-19.5212	10.6278	0.45519	0.0:0.8824:0.0:0.1176	.	193;193;192	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	R	192;193;193	ENSP00000358588:G192R;ENSP00000358581:G193R;ENSP00000399588:G193R	ENSP00000358581:G193R	G	-	1	0	GAB3	153594695	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	4.562000	0.60816	2.102000	0.63906	0.513000	0.50165	GGA		0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		3	87	0	0	0	0.004672	0	3	87				
CDC7	8317	broad.mit.edu	37	1	91979544	91979544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:91979544delG	ENST00000428239.1	+	8	1121	c.862delG	c.(862-864)ggafs	p.G288fs	CDC7_ENST00000234626.6_Frame_Shift_Del_p.G288fs|CDC7_ENST00000430031.2_Frame_Shift_Del_p.G260fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTCTGTTTTTGGAGAAAGAAA	0.393																																							uc001doe.2		NA																	0				stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(862-864)GGAfs		cell division cycle 7							118.0	115.0	116.0					1																	91979544		2203	4300	6503	SO:0001589	frameshift_variant	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91979544delG	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.862delG	1.37:g.91979544delG	ENSP00000393139:p.Gly288fs					CDC7_uc001dof.2_Frame_Shift_Del_p.G288fs|CDC7_uc010osw.1_Frame_Shift_Del_p.G260fs|CDC7_uc009wdc.2_Frame_Shift_Del_p.G288fs|CDC7_uc009wdd.2_5'Flank	p.G288fs	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	8	1027	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	288			Protein kinase.		D3DT31|O00558|Q5T5U5	Frame_Shift_Del	DEL	ENST00000428239.1	37	c.862delG	CCDS734.1																																																																																				0.393	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		14	43	NA	NA	NA	NA	NA	14	43	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1405671	1405671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:1405671delG	ENST00000381312.1	-	3	954	c.629delC	c.(628-630)acgfs	p.T210fs	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	210			T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T210M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGTGAAGTCCGTgccggggcc	0.751																																							uc009xhq.2		NA																	1	Substitution - Missense(1)	p.T210M(1)	large_intestine(1)	large_intestine(2)|central_nervous_system(1)	3						c.(628-630)ACGfs		adenosine deaminase, RNA-specific, B2							10.0	12.0	11.0					10																	1405671		2190	4275	6465	SO:0001589	frameshift_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405671delG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.629delC	10.37:g.1405671delG	ENSP00000370713:p.Thr210fs						p.T210fs	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1003	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	210		T -> M (in a colorectal cancer sample; somatic mutation).			B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	37	c.629delC	CCDS7058.1																																																																																				0.751	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75883569	75883569	+	Stop_Codon_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:75883569delC	ENST00000355264.4	-	0	1567				RP11-178G16.4_ENST00000598318.1_lincRNA|RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Stop_Codon_Del	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GGCCTCTTCTCATGTCCTCAC	0.393																																							uc001jwf.2		NA																	0					0						c.(1255-1257)TGAfs		adaptor-related protein complex 3, mu 1 subunit							200.0	171.0	181.0					10																	75883569		2203	4300	6503	SO:0001567	stop_retained_variant	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75883569delC	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	Exception_encountered	10.37:g.75883569delC	Exception_encountered					AP3M1_uc001jwg.2_Frame_Shift_Del_p.*419fs|AP3M1_uc001jwh.2_Frame_Shift_Del_p.*419fs|AP3M1_uc010qla.1_Frame_Shift_Del_p.*365fs	p.*419fs	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN			9	1686	-	Prostate(51;0.0112)		419					Q5JQ12|Q9H5L2	Frame_Shift_Del	DEL	ENST00000355264.4	37	c.1256delG	CCDS7342.1																																																																																				0.393	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			33	71	NA	NA	NA	NA	NA	33	71	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85974197	85974197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:85974197delG	ENST00000372117.3	+	17	2503	c.2400delG	c.(2398-2400)gtgfs	p.V800fs	CDHR1_ENST00000440770.2_Frame_Shift_Del_p.V504fs|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	800	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCAGCGTGGCGCCCAGCA	0.597																																							uc001kcv.2		NA																	0				ovary(1)	1						c.(2398-2400)GTGfs		protocadherin 21 precursor							83.0	88.0	86.0					10																	85974197		2203	4300	6503	SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974197delG	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2400delG	10.37:g.85974197delG	ENSP00000361189:p.Val800fs					CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Frame_Shift_Del_p.V504fs|CDHR1_uc001kcx.2_Frame_Shift_Del_p.V114fs	p.V800fs	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2400	+			800			Cytoplasmic (Potential).|Pro-rich.		Q69YZ8|Q8IXY5	Frame_Shift_Del	DEL	ENST00000372117.3	37	c.2400delG	CCDS7372.1																																																																																				0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		37	91	NA	NA	NA	NA	NA	37	91	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9163520	9163520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:9163520delC	ENST00000328194.3	-	22	3967	c.3647delG	c.(3646-3648)ggcfs	p.G1216fs	DENND5A_ENST00000530044.1_Splice_Site|DENND5A_ENST00000527700.1_Frame_Shift_Del_p.G559fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1216	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAAACTTGCCATCCTTGCC	0.552																																							uc001mhl.2		NA																	0				liver(1)	1						c.(3646-3648)GGCfs		RAB6 interacting protein 1							136.0	120.0	126.0					11																	9163520		2201	4296	6497	SO:0001589	frameshift_variant	23258							g.chr11:9163520delC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3647delG	11.37:g.9163520delC	ENSP00000328524:p.Gly1216fs					DENND5A_uc001mhk.2_Frame_Shift_Del_p.G559fs|DENND5A_uc010rbw.1_Splice_Site_p.E1216_splice	p.G1216fs	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			22	3902	-			1216			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Del	DEL	ENST00000328194.3	37	c.3647delG	CCDS31423.1																																																																																				0.552	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		12	40	NA	NA	NA	NA	NA	12	40	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55861592delC	ENST00000302124.2	+	1	840	c.809delC	c.(808-810)gcgfs	p.A270fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						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)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453																																							uc010rix.1		NA																	0				breast(1)	1						c.(808-810)GCGfs		olfactory receptor, family 8, subfamily I,							91.0	89.0	89.0					11																	55861592		2201	4296	6497	SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861592delC	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.809delC	11.37:g.55861592delC	ENSP00000303864:p.Ala270fs						p.A270fs	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	809	+	Esophageal squamous(21;0.00693)		270			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	c.809delC	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		22	110	NA	NA	NA	NA	NA	22	110	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121429484	121429484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:121429484delG	ENST00000260197.7	+	20	2977	c.2848delG	c.(2848-2850)ggcfs	p.G950fs		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	950					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACGTTCAGTGGCCAGCAGCG	0.552																																							uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(2848-2850)GGCfs		sortilin-related receptor containing LDLR class							193.0	147.0	162.0					11																	121429484		2203	4299	6502	SO:0001589	frameshift_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429484delG	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2848delG	11.37:g.121429484delG	ENSP00000260197:p.Gly950fs						p.G950fs	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2928	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	950			Extracellular (Potential).|LDL-receptor class B 4.		B2RNX7|Q92856	Frame_Shift_Del	DEL	ENST00000260197.7	37	c.2848delG	CCDS8436.1																																																																																				0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		19	66	NA	NA	NA	NA	NA	19	66	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7848269	7848269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:7848269delC	ENST00000329913.3	-	1	103	c.56delG	c.(55-57)ggcfs	p.G19fs		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	19					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GACTGCCTGGCCCAAAGCCAG	0.498																																							uc001qte.2		NA																	0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(55-57)GGCfs		growth differentiation factor 3 precursor							38.0	38.0	38.0					12																	7848269		2203	4300	6503	SO:0001589	frameshift_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848269delC	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.56delG	12.37:g.7848269delC	ENSP00000331745:p.Gly19fs						p.G19fs	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	92	-			19					Q8NEJ4	Frame_Shift_Del	DEL	ENST00000329913.3	37	c.56delG	CCDS8581.1																																																																																				0.498	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			8	50	NA	NA	NA	NA	NA	8	50	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52093524	52093525	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52093524_52093525insT	ENST00000354534.6	+	7	1055_1056	c.877_878insT	c.(877-879)cttfs	p.L293fs	SCN8A_ENST00000550891.1_Frame_Shift_Ins_p.L293fs|SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.L293fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	293					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CGAGAGCTATCTTGAAAATGGC	0.436																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(877-879)CTTfs		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)																																			SO:0001589	frameshift_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52093524_52093525insT	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.879dupT	12.37:g.52093526_52093526dupT	ENSP00000346534:p.Leu293fs					SCN8A_uc010snl.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryx.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryz.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryy.2_Frame_Shift_Ins_p.L158fs	p.L293fs	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	7	1055_1056	+			293			I.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Ins	INS	ENST00000354534.6	37	c.877_878insT	CCDS44891.1																																																																																				0.436	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		9	25	NA	NA	NA	NA	NA	9	25	---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41933096	41933097	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:41933096_41933097insG	ENST00000379406.3	+	12	1732_1733	c.1408_1409insG	c.(1408-1410)aggfs	p.R470fs	NAA16_ENST00000379367.3_Frame_Shift_Ins_p.R470fs	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	470					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R470M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CAAGTTCACAAGGGTAGGAAAT	0.356																																							uc001uyf.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1408-1410)AGGfs		NMDA receptor regulated 1-like protein isoform																																				SO:0001589	frameshift_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41933096_41933097insG	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1411dupG	13.37:g.41933099_41933099dupG	ENSP00000368716:p.Arg470fs					NAA16_uc010tfg.1_RNA	p.R470fs	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			12	1732_1733	+			470					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Frame_Shift_Ins	INS	ENST00000379406.3	37	c.1408_1409insG	CCDS9379.1																																																																																				0.356	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		33	94	NA	NA	NA	NA	NA	33	94	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492477	78492477	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:78492477delC	ENST00000334286.5	-	1	468	c.232delG	c.(232-234)gcafs	p.A78fs	EDNRB_ENST00000446573.1_Frame_Shift_Del_p.A78fs|EDNRB_ENST00000377211.4_Frame_Shift_Del_p.A168fs|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|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 penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GGAGATCCTGCCGTCCTGTCT	0.582																																							uc001vko.2		NA																	0					0						c.(232-234)GCAfs		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						107.0	106.0	106.0					13																	78492477		2203	4300	6503	SO:0001589	frameshift_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492477delC	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.232delG	13.37:g.78492477delC	ENSP00000335311:p.Ala78fs					uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Frame_Shift_Del_p.A78fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.A78fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.A161fs|EDNRB_uc010afa.1_Frame_Shift_Del_p.A78fs	p.A78fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	490	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	78			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Frame_Shift_Del	DEL	ENST00000334286.5	37	c.232delG	CCDS9461.1																																																																																				0.582	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			16	71	NA	NA	NA	NA	NA	16	71	---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	62016430	62016430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:62016430delG	ENST00000332981.5	+	14	2318	c.1933delG	c.(1933-1935)gacfs	p.D645fs	PRKCH_ENST00000555082.1_Frame_Shift_Del_p.D484fs|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	645	AGC-kinase C-terminal.		D -> V (in dbSNP:rs35561533).		blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGTAATTTTGACCCTGACTT	0.398																																					Melanoma(135;863 1779 8064 14443 26348)	Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1933-1935)GACfs		protein kinase C, eta							136.0	140.0	138.0					14																	62016430		2203	4300	6503	SO:0001589	frameshift_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62016430delG	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1933delG	14.37:g.62016430delG	ENSP00000329127:p.Asp645fs					PRKCH_uc010tsa.1_Frame_Shift_Del_p.D484fs|PRKCH_uc010tsb.1_Frame_Shift_Del_p.D213fs|PRKCH_uc001xfo.2_RNA	p.D645fs	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	14	2238	+			645			AGC-kinase C-terminal.		B4DJN5|Q16246|Q8NE03	Frame_Shift_Del	DEL	ENST00000332981.5	37	c.1933delG	CCDS9752.1																																																																																				0.398	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		31	81	NA	NA	NA	NA	NA	31	81	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93719992	93719992	+	Splice_Site	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:93719992delC	ENST00000334746.5	-	7	2060		c.e7+1		BTBD7_ENST00000393170.2_Splice_Site|BTBD7_ENST00000554565.1_Splice_Site	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7						multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTTTTCATTACCTTTGCTTCT	0.373																																							uc001ybo.2		NA																	0				pancreas(1)	1						c.e7+1		BTB (POZ) domain containing 7 isoform 1							128.0	119.0	122.0					14																	93719992		2203	4300	6503	SO:0001630	splice_region_variant	55727							g.chr14:93719992delC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1752+1G>-	14.37:g.93719992delC						BTBD7_uc010aur.2_Splice_Site_p.K109_splice|BTBD7_uc010two.1_Splice_Site_p.K404_splice|BTBD7_uc001ybp.2_Splice_Site_p.K233_splice	p.K584_splice	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	7	2078	-		all_cancers(154;0.08)						A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Splice_Site	DEL	ENST00000334746.5	37	c.1752_splice	CCDS32146.1																																																																																				0.373	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	Intron	30	77	NA	NA	NA	NA	NA	30	77	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48245032	48245033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:48245032_48245033insA	ENST00000262018.3	+	3	283_284	c.247_248insA	c.(247-249)cccfs	p.P83fs	SGCA_ENST00000451235.2_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P83fs|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P83fs	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	83					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCAGCGCAGCCCCCACCACCCT	0.658																																							uc002iqi.2		NA																	0				ovary(2)	2						c.(247-249)CCCfs		sarcoglycan, alpha isoform 1 precursor																																				SO:0001589	frameshift_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245032_48245033insA	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	Exception_encountered	17.37:g.48245032_48245033insA	ENSP00000262018:p.Pro83fs					SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Frame_Shift_Ins_p.P83fs|SGCA_uc010wmi.1_RNA	p.P83fs	NM_000023	NP_000014	Q16586	SGCA_HUMAN			3	283_284	+			83			Extracellular (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Frame_Shift_Ins	INS	ENST00000262018.3	37	c.247_248insA	CCDS32679.1																																																																																				0.658	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		7	29	NA	NA	NA	NA	NA	7	29	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61390628	61390628	+	RNA	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:61390628delC	ENST00000382749.5	+	0	1419				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTTGCCTCTCCCTAATCAGA	0.498																																					Ovarian(27;496 784 5942 8975 23930)	Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NA																	0				breast(1)	1						c.(1174-1176)CCCfs		serpin peptidase inhibitor, clade B, member 11							123.0	111.0	115.0					18																	61390628		2096	4234	6330			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390628delC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390628delC						SERPINB11_uc010xes.1_Frame_Shift_Del_p.P217fs|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Frame_Shift_Del_p.P278fs|SERPINB11_uc010dqe.2_Frame_Shift_Del_p.P191fs|SERPINB11_uc010dqf.2_Frame_Shift_Del_p.P190fs	p.P392fs	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			9	1236	+		Esophageal squamous(42;0.129)	392					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Frame_Shift_Del	DEL	ENST00000382749.5	37	c.1174delC																																																																																					0.498	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		20	78	NA	NA	NA	NA	NA	20	78	---	---	---	---
CAPN12	147968	broad.mit.edu	37	19	39227940	39227941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39227940_39227941insC	ENST00000328867.4	-	10	1525_1526	c.1217_1218insG	c.(1216-1218)ggcfs	p.G406fs	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Frame_Shift_Ins_p.G257fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	406	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGCCCCCCAGCCCCCCCAGGG	0.673																																							uc002ojd.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1216-1218)GGCfs		calpain 12																																				SO:0001589	frameshift_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39227940_39227941insC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1218dupG	19.37:g.39227947_39227947dupC	ENSP00000331636:p.Gly406fs					CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	p.G406fs	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1526_1527	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		406			Domain III.			Frame_Shift_Ins	INS	ENST00000328867.4	37	c.1217_1218insG	CCDS12519.1																																																																																				0.673	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71360643	71360645	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	TTT	TTT	-	-	TTT	TTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:71360643_71360645delTTT	ENST00000244230.2	+	2	1057_1059	c.705_707delTTT	c.(703-708)gatttt>gat	p.F237del	MPHOSPH10_ENST00000498451.2_In_Frame_Del_p.F237del	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	237					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGATATTGATTTTTTTGAAGAT	0.34																																							uc002sht.1		NA																	0				skin(2)|ovary(1)	3						c.(703-708)GATTTT>GAT		M-phase phosphoprotein 10																																				SO:0001651	inframe_deletion	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360643_71360645delTTT	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.705_707delTTT	2.37:g.71360646_71360648delTTT	ENSP00000244230:p.Phe237del					MPHOSPH10_uc010feb.1_In_Frame_Del_p.F237del	p.F237del	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	1057_1059	+			237			Potential.		A0AVJ8	In_Frame_Del	DEL	ENST00000244230.2	37	c.705_707delTTT	CCDS1916.1																																																																																				0.340	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		26	72	NA	NA	NA	NA	NA	26	72	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152292047	152292048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:152292047_152292048insT	ENST00000243326.5	+	10	1631_1632	c.1148_1149insT	c.(1147-1152)catgtafs	p.V384fs	RIF1_ENST00000444746.2_Frame_Shift_Ins_p.V384fs|RIF1_ENST00000428287.2_Frame_Shift_Ins_p.V384fs|RIF1_ENST00000430328.2_Frame_Shift_Ins_p.V384fs|RIF1_ENST00000453091.2_Frame_Shift_Ins_p.V384fs|RIF1_ENST00000433166.2_Intron			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTCGTGTCATGTAGCTACAT	0.376																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(1147-1149)CATfs		RAP1 interacting factor 1																																				SO:0001589	frameshift_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152292047_152292048insT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1149dupT	2.37:g.152292048_152292048dupT	ENSP00000243326:p.Val384fs					RIF1_uc002txl.2_Frame_Shift_Ins_p.H383fs|RIF1_uc010fnv.1_Frame_Shift_Ins_p.H347fs|RIF1_uc002txn.2_Frame_Shift_Ins_p.H383fs|RIF1_uc002txo.2_Frame_Shift_Ins_p.H383fs|RIF1_uc010zby.1_Intron	p.H383fs	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	11	1278_1279	+			383					A0AVS0|Q9NS16	Frame_Shift_Ins	INS	ENST00000243326.5	37	c.1148_1149insT	CCDS2194.1																																																																																				0.376	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			44	140	NA	NA	NA	NA	NA	44	140	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179554591	179554591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179554591delC	ENST00000591111.1	-	120	31068	c.30844delG	c.(30844-30846)gaafs	p.E10282fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.E9355fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.E10599fs			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			GGAATCTTTTCTTCAGGGACA	0.393																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28063-28065)GAAfs		titin isoform N2-A							175.0	169.0	171.0					2																	179554591		1831	4080	5911	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179554591delC	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.30844delG	2.37:g.179554591delC	ENSP00000465570:p.Glu10282fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.E6016fs|TTN_uc010fre.1_Frame_Shift_Del_p.E466fs	p.E9355fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	28287	-			10282					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.28063delG																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		72	214	NA	NA	NA	NA	NA	72	214	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190340074	190340074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:190340074delG	ENST00000314761.4	+	21	2484	c.2424delG	c.(2422-2424)ttgfs	p.L808fs		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	808						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TACATCAGTTGTCAAAATCTG	0.363																																							uc002uql.1		NA																	0				ovary(2)	2						c.(2422-2424)TTGfs		WD repeat domain 75							55.0	55.0	55.0					2																	190340074		2203	4300	6503	SO:0001589	frameshift_variant	84128					nucleolus		g.chr2:190340074delG	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2424delG	2.37:g.190340074delG	ENSP00000314193:p.Leu808fs					WDR75_uc002uqm.1_Frame_Shift_Del_p.L744fs|WDR75_uc002uqn.1_Frame_Shift_Del_p.L586fs|WDR75_uc002uqo.1_Frame_Shift_Del_p.L586fs	p.L808fs	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		21	2484	+			808					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Frame_Shift_Del	DEL	ENST00000314761.4	37	c.2424delG	CCDS2298.1																																																																																				0.363	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		19	46	NA	NA	NA	NA	NA	19	46	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177021	44177021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:44177021delG	ENST00000360029.3	-	2	1491	c.1208delC	c.(1207-1209)ccafs	p.P404fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	404					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTGTCTGGTGGGGGTATCCA	0.483										HNSCC(17;0.042)																													uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1207-1209)CCAfs		potassium channel tetramerisation domain							198.0	203.0	201.0					4																	44177021		2203	4300	6503	SO:0001589	frameshift_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177021delG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1208delC	4.37:g.44177021delG	ENSP00000353129:p.Pro404fs	HNSCC(17;0.042)					p.P403fs	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1492	-			403					A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	c.1208delC	CCDS3467.1																																																																																				0.483	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			44	294	NA	NA	NA	NA	NA	44	294	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467435	66467435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:66467435delG	ENST00000273854.3	-	3	1434	c.834delC	c.(832-834)gccfs	p.A278fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.A278fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.A278fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.A278fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	278	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTCCCCTTCGGCGCTGCAGT	0.522										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(832-834)GCCfs		ephrin receptor EphA5 isoform a precursor							78.0	79.0	79.0					4																	66467435		2203	4300	6503	SO:0001589	frameshift_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467435delG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.834delC	4.37:g.66467435delG	ENSP00000273854:p.Ala278fs	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Frame_Shift_Del_p.A209fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.A278fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.A278fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.A278fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.A278fs	p.A278fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1027	-			278			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	c.834delC	CCDS3513.1																																																																																				0.522	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		9	65	NA	NA	NA	NA	NA	9	65	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33546184	33546184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33546184delC	ENST00000504830.1	-	22	4761	c.4426delG	c.(4426-4428)gccfs	p.A1476fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.A1391fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1476	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCAGTGGCCCAGTGACAG	0.438										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4426-4428)GCCfs		ADAM metallopeptidase with thrombospondin type 1							117.0	103.0	108.0					5																	33546184		2203	4300	6503	SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33546184delC	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4426delG	5.37:g.33546184delC	ENSP00000422554:p.Ala1476fs	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.A1391fs	p.A1476fs	NM_030955	NP_112217	P58397	ATS12_HUMAN			22	4589	-			1476			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	c.4426delG	CCDS34140.1																																																																																				0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		7	88	NA	NA	NA	NA	NA	7	88	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33561259	33561260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33561259_33561260insT	ENST00000504830.1	-	20	4332_4333	c.3997_3998insA	c.(3997-3999)gccfs	p.A1333fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.A1248fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1333	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCCAGTAGGCCCCCAGGCCA	0.584										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3997-3999)GCCfs		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561259_33561260insT	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3997_3998insA	5.37:g.33561259_33561260insT	ENSP00000422554:p.Ala1333fs	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.A1248fs	p.A1333fs	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4160_4161	-			1333			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Ins	INS	ENST00000504830.1	37	c.3997_3998insA	CCDS34140.1																																																																																				0.584	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	80	NA	NA	NA	NA	NA	14	80	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35709195	35709196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:35709195_35709196insC	ENST00000356031.3	+	19	2965_2966	c.2811_2812insC	c.(2812-2814)cctfs	p.P938fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.P933fs|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.P933fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	938					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCAAAAACTCCTACTGCAAA	0.386																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2809-2814)ACTCCTfs		KPL2 protein isoform 1																																				SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35709195_35709196insC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2813dupC	5.37:g.35709197_35709197dupC	ENSP00000348314:p.Pro938fs					SPEF2_uc003jjq.3_Frame_Shift_Ins_p.T932fs|SPEF2_uc003jjp.1_Frame_Shift_Ins_p.T423fs	p.T937fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		19	2922_2923	+	all_lung(31;7.56e-05)		937_938					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Ins	INS	ENST00000356031.3	37	c.2811_2812insC	CCDS43309.1																																																																																				0.386	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		18	118	NA	NA	NA	NA	NA	18	118	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257309	63257309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:63257309delC	ENST00000323865.3	-	1	471	c.238delG	c.(238-240)gtcfs	p.V80fs	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	80					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGGTCGGTGACCGCCAAAGAG	0.597																																							uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(238-240)GTCfs		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						43.0	50.0	47.0					5																	63257309		2203	4300	6503	SO:0001589	frameshift_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257309delC	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.238delG	5.37:g.63257309delC	ENSP00000316244:p.Val80fs						p.V80fs	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	238	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	80			Helical; Name=2; (By similarity).		Q6LAE7	Frame_Shift_Del	DEL	ENST00000323865.3	37	c.238delG	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		8	15	NA	NA	NA	NA	NA	8	15	---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174869076	174869076	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:174869076delT	ENST00000393752.2	-	2	2019	c.1027delA	c.(1027-1029)accfs	p.T343fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	343					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCTAAGAGGGTTGAAAATGCC	0.453																																							uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(1027-1029)ACCfs		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						101.0	100.0	100.0					5																	174869076		2203	4300	6503	SO:0001589	frameshift_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869076delT	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1027delA	5.37:g.174869076delT	ENSP00000377353:p.Thr343fs						p.T343fs	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1972	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	343			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Frame_Shift_Del	DEL	ENST00000393752.2	37	c.1027delA	CCDS4393.1																																																																																				0.453	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		35	52	NA	NA	NA	NA	NA	35	52	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838281	100838281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100838281delG	ENST00000369208.3	-	12	3039	c.2257delC	c.(2257-2259)caafs	p.Q753fs	SIM1_ENST00000262901.4_Frame_Shift_Del_p.Q753fs			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	753	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGTGTCCTTGTGCTGGGTCT	0.383																																							uc003pqj.3		NA																	0				ovary(4)	4						c.(2257-2259)CAAfs		single-minded homolog 1							157.0	151.0	153.0					6																	100838281		2203	4300	6503	SO:0001589	frameshift_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838281delG	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2257delC	6.37:g.100838281delG	ENSP00000358210:p.Gln753fs					SIM1_uc010kcu.2_Frame_Shift_Del_p.Q753fs	p.Q753fs	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2464	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	753			Single-minded C-terminal.		Q5TDP7	Frame_Shift_Del	DEL	ENST00000369208.3	37	c.2257delC	CCDS5045.1																																																																																				0.383	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		32	110	NA	NA	NA	NA	NA	32	110	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165711542	165711542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:165711542delC	ENST00000230301.8	-	5	1005	c.985delG	c.(985-987)gcgfs	p.A329fs	C6orf118_ENST00000543069.1_Frame_Shift_Del_p.A225fs	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	329										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCATGTCCGCCGTCTTCACC	0.602																																							uc003qum.3		NA																	0					0						c.(985-987)GCGfs		hypothetical protein LOC168090							104.0	85.0	91.0					6																	165711542		2203	4300	6503	SO:0001589	frameshift_variant	168090							g.chr6:165711542delC		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.985delG	6.37:g.165711542delC	ENSP00000230301:p.Ala329fs					C6orf118_uc011egi.1_RNA	p.A329fs	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	5	1021	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	329					Q8TC11	Frame_Shift_Del	DEL	ENST00000230301.8	37	c.985delG	CCDS5288.1																																																																																				0.602	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		15	49	NA	NA	NA	NA	NA	15	49	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96653778	96653778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:96653778delC	ENST00000222598.4	-	1	631	c.158delG	c.(157-159)ggafs	p.G53fs	DLX5_ENST00000486603.2_Frame_Shift_Del_p.G53fs|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	53					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTGCGGGGCTCCCCCCGTAGG	0.602																																							uc003uon.2		NA																	0				ovary(1)	1						c.(157-159)GGAfs		distal-less homeobox 5							50.0	55.0	53.0					7																	96653778		2203	4300	6503	SO:0001589	frameshift_variant	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653778delC		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.158delG	7.37:g.96653778delC	ENSP00000222598:p.Gly53fs					DLX5_uc011kim.1_Frame_Shift_Del_p.G53fs	p.G53fs	NM_005221	NP_005212	P56178	DLX5_HUMAN			1	366	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		53					B7Z4P3|Q9UPL1	Frame_Shift_Del	DEL	ENST00000222598.4	37	c.158delG	CCDS5647.1																																																																																				0.602	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			14	62	NA	NA	NA	NA	NA	14	62	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99146751	99146751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:99146751delT	ENST00000401707.2	+	7	956	c.875delT	c.(874-876)cttfs	p.L292fs	POP1_ENST00000349693.3_Frame_Shift_Del_p.L292fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	292					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAAGGGAGCCTTGTGCTTTAT	0.502																																							uc003yij.3		NA																	0				ovary(1)|breast(1)	2						c.(874-876)CTTfs		processing of precursor 1							123.0	124.0	124.0					8																	99146751		2203	4300	6503	SO:0001589	frameshift_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99146751delT	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.875delT	8.37:g.99146751delT	ENSP00000385787:p.Leu292fs					POP1_uc011lgv.1_Frame_Shift_Del_p.L292fs|POP1_uc003yik.2_Frame_Shift_Del_p.L292fs	p.L292fs	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		7	975	+	Breast(36;1.78e-06)		292					A8K5W9|Q15037	Frame_Shift_Del	DEL	ENST00000401707.2	37	c.875delT	CCDS6277.1																																																																																				0.502	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		19	68	NA	NA	NA	NA	NA	19	68	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e36-1		fibrocystin L precursor																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	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.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)					p.G1465_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4498	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37	c.4394_splice	CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	9	127	NA	NA	NA	NA	NA	9	127	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18906757	18906758	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:18906757_18906758insT	ENST00000380548.4	+	28	5368_5369	c.5029_5030insT	c.(5029-5031)ctgfs	p.L1677fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Ins_p.L378fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1677	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGTGGACCCTGTGCACAGCT	0.614																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(5029-5031)CTGfs		ADAMTS-like 1 isoform 4 precursor																																				SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906757_18906758insT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5030dupT	9.37:g.18906758_18906758dupT	ENSP00000369921:p.Leu1677fs					ADAMTSL1_uc003znf.3_Frame_Shift_Ins_p.L378fs|ADAMTSL1_uc003zng.1_Frame_Shift_Ins_p.L68fs	p.L1677fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5156_5157	+			1677			TSP type-1 9.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	ENST00000380548.4	37	c.5029_5030insT	CCDS47954.1																																																																																				0.614	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			10	15	NA	NA	NA	NA	NA	10	15	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74324265	74324266	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:74324265_74324266delCA	ENST00000377044.4	-	17	3433_3434	c.2894_2895delTG	c.(2893-2895)gtgfs	p.V965fs	TMEM2_ENST00000377066.5_Frame_Shift_Del_p.V902fs	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	965					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)		CCATTCTTCCCACATAAGCATC	0.465																																							uc011lsa.1		NA																	0				ovary(2)	2						c.(2893-2895)GTGfs		transmembrane protein 2 isoform a																																				SO:0001589	frameshift_variant	23670					integral to membrane		g.chr9:74324265_74324266delCA		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.2894_2895delTG	9.37:g.74324267_74324268delCA	ENSP00000366243:p.Val965fs					TMEM2_uc010mos.2_Frame_Shift_Del_p.V902fs|TMEM2_uc011lsb.1_RNA	p.V965fs	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3434_3435	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	965					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Frame_Shift_Del	DEL	ENST00000377044.4	37	c.2894_2895delTG	CCDS6638.1																																																																																				0.465	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		9	89	NA	NA	NA	NA	NA	9	89	---	---	---	---
