#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CATSPER4	378807	broad.mit.edu	37	1	26527434	26527434	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:26527434G>A	ENST00000456354.2	+	8	1168	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	367					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTGTCGAACCTCTCAG	0.542																																						uc010oez.1		NA																	0				ovary(1)	1						c.(1099-1101)TCG>TCA		cation channel, sperm associated 4							79.0	78.0	78.0					1																	26527434		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527434G>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1101G>A	1.37:g.26527434G>A						CATSPER4_uc010oey.1_Silent_p.S189S|CATSPER4_uc009vsf.2_RNA	p.S367S	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	8	1101	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	367			Cytoplasmic (Potential).		A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.1101G>A	CCDS30645.1																																																																																				0.542	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		7	53	0	0	0	0	7	53				
DEPDC1	55635	broad.mit.edu	37	1	68947189	68947189	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:68947189C>T	ENST00000456315.2	-	9	1983	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.M339I	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	623	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTCGGGAAATCATACGCATTA	0.393																																						uc001dem.3		NA																	0					0						c.(1867-1869)ATG>ATA		DEP domain containing 1 isoform a							84.0	79.0	81.0					1																	68947189		2203	4299	6502	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947189C>T	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1869G>A	1.37:g.68947189C>T	ENSP00000412292:p.Met623Ile					DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.M339I	p.M623I	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	1986	-			623			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1869G>A	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478133	0.84747	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;T	0.84516	-1.86;2.25	5.72	5.72	0.89469	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.78637	2.42	0.43230	D	0.995128	D;D	0.71674	0.998;0.982	D;D	0.69654	0.965;0.961	D	0.90662	0.4591	10	0.51188	T	0.08	-5.9369	19.8968	0.96969	0.0:1.0:0.0:0.0	.	623;339	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	I	623;339	ENSP00000412292:M623I;ENSP00000360005:M339I	ENSP00000360005:M339I	M	-	3	0	DEPDC1	68719777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.299000	0.78831	2.691000	0.91804	0.655000	0.94253	ATG		0.393	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		3	26	0	0	0	0	3	26				
ZZZ3	26009	broad.mit.edu	37	1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					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						ACGAGTAGATCGGGAAGCAGC	0.403																																						uc001dhq.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(13-15)CGA>CAA		zinc finger, ZZ-type containing 3							38.0	40.0	39.0					1																	78099026		2198	4294	6492	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78099026C>T	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.14G>A	1.37:g.78099026C>T	ENSP00000359837:p.Arg5Gln					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R5Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R5Q	p.R5Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	490	-			5					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.14G>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880664	0.72294	.	.	ENSG00000036549	ENST00000370801;ENST00000433749;ENST00000414381	.	.	.	5.57	3.66	0.41972	.	0.072490	0.56097	D	0.000023	T	0.59689	0.2212	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.98;0.988	P;B;P	0.62184	0.899;0.395;0.599	T	0.65573	-0.6135	9	0.87932	D	0	.	12.9631	0.58470	0.1297:0.7459:0.1244:0.0	.	5;5;5	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	5	.	ENSP00000359837:R5Q	R	-	2	0	ZZZ3	77871614	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	0.793000	0.33875	-0.182000	0.12963	CGA		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		9	42	0	0	0	0	9	42				
TMED5	50999	broad.mit.edu	37	1	93621908	93621908	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:93621908C>A	ENST00000370282.3	-	3	905	c.420G>T	c.(418-420)aaG>aaT	p.K140N	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.K140N|TMED5_ENST00000479918.1_Missense_Mutation_p.K140N	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	140					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TAATATATTTCTTCCAATCTT	0.353																																						uc001dpn.2		NA																	0				ovary(1)	1						c.(418-420)AAG>AAT		transmembrane emp24 protein transport domain							185.0	175.0	179.0					1																	93621908		2203	4300	6503	SO:0001583	missense	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93621908C>A	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.420G>T	1.37:g.93621908C>A	ENSP00000359305:p.Lys140Asn					TMED5_uc001dpo.2_Missense_Mutation_p.K140N|TMED5_uc001dpp.2_RNA	p.K140N	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	3	867	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	140			Lumenal (Potential).		B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.420G>T	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066151	0.55539	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.18657	2.2;2.2;2.2	5.48	4.56	0.56223	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.31845	0.965	0.58432	D	0.999999	D;P	0.61697	0.99;0.947	D;P	0.64410	0.925;0.837	T	0.01956	-1.1240	10	0.33141	T	0.24	-29.1442	13.2941	0.60286	0.0:0.9228:0.0:0.0772	.	140;140	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	N	140;140;89;140	ENSP00000359305:K140N;ENSP00000418992:K140N;ENSP00000359303:K140N	ENSP00000359303:K140N	K	-	3	2	TMED5	93394496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.972000	0.40540	1.287000	0.44583	0.585000	0.79938	AAG		0.353	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		12	77	1	0	2.27e-07	2.44e-07	12	77				
GSTM4	2948	broad.mit.edu	37	1	110199342	110199342	+	Silent	SNP	C	C	T	rs368378245		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:110199342C>T	ENST00000369836.4	+	2	354	c.45C>T	c.(43-45)caC>caT	p.H15H	GSTM4_ENST00000326729.5_Silent_p.H15H|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Silent_p.H15H	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	15	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AGCTGGCCCACGCCATCCGCC	0.582																																						uc001dyf.2		NA																	0					0						c.(43-45)CAC>CAT		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)	C	,	1,4405		0,1,2202	129.0	136.0	134.0		45,45	-6.2	0.7	1		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GSTM4	NM_000850.4,NM_147148.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	15/219,15/196	110199342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110199342C>T	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.45C>T	1.37:g.110199342C>T						GSTM4_uc009wfi.2_Silent_p.H15H|GSTM4_uc001dyg.2_Translation_Start_Site|GSTM4_uc009wfj.2_Silent_p.H15H|GSTM4_uc001dyh.2_Silent_p.H15H|GSTM2_uc001dyi.2_Intron	p.H15H	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	359	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	15			GST N-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Silent	SNP	ENST00000369836.4	37	c.45C>T	CCDS807.1																																																																																				0.582	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		23	127	0	0	0	0	23	127				
CD160	11126	broad.mit.edu	37	1	145704173	145704173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704173C>T	ENST00000369288.2	-	4	461	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CD160_ENST00000235933.6_Missense_Mutation_p.D82N|CD160_ENST00000401557.3_Missense_Mutation_p.D82N|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	82	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCAGGATCCCTTTTAAGT	0.463																																					Colon(182;1122 1999 4065 44014 53024)	uc001eol.1		NA																	0					0						c.(244-246)GAT>AAT		CD160 antigen precursor							109.0	102.0	104.0					1																	145704173		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145704173C>T	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.244G>A	1.37:g.145704173C>T	ENSP00000358294:p.Asp82Asn					NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron	p.D82N	NM_007053	NP_008984	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		4	462	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		82			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.244G>A	CCDS923.1	.	.	.	.	.	.	.	.	.	.	C	2.477	-0.320504	0.05386	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.46819	0.86;0.86;0.86	4.34	0.149	0.14863	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.977441	0.08337	N	0.961516	T	0.09598	0.0236	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.31308	-0.9948	10	0.22706	T	0.39	0.0454	3.4459	0.07481	0.3777:0.4201:0.0:0.2022	.	82	O95971	BY55_HUMAN	N	82	ENSP00000235933:D82N;ENSP00000358294:D82N;ENSP00000385199:D82N	ENSP00000235933:D82N	D	-	1	0	CD160	144415530	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.174000	0.09839	-0.152000	0.11156	-0.251000	0.11542	GAT		0.463	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		15	90	0	0	0	0	15	90				
CD160	11126	broad.mit.edu	37	1	145704204	145704204	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704204C>G	ENST00000369288.2	-	4	430	c.213G>C	c.(211-213)gaG>gaC	p.E71D	CD160_ENST00000235933.6_Missense_Mutation_p.E71D|CD160_ENST00000401557.3_Missense_Mutation_p.E71D|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	71	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTAAACTGGTCTCAGGAGAAC	0.438																																					Colon(182;1122 1999 4065 44014 53024)	uc001eol.1		NA																	0					0						c.(211-213)GAG>GAC		CD160 antigen precursor							102.0	95.0	98.0					1																	145704204		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145704204C>G	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.213G>C	1.37:g.145704204C>G	ENSP00000358294:p.Glu71Asp					NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron	p.E71D	NM_007053	NP_008984	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		4	431	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		71			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.213G>C	CCDS923.1	.	.	.	.	.	.	.	.	.	.	C	7.139	0.581374	0.13686	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.57436	0.4;0.4;0.4	4.34	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.364316	0.20098	N	0.099297	T	0.29288	0.0729	N	0.19112	0.55	0.27579	N	0.949638	D	0.54047	0.964	P	0.54499	0.754	T	0.05989	-1.0852	10	0.36615	T	0.2	-5.0217	7.8608	0.29509	0.0:0.8862:0.0:0.1138	.	71	O95971	BY55_HUMAN	D	71	ENSP00000235933:E71D;ENSP00000358294:E71D;ENSP00000385199:E71D	ENSP00000235933:E71D	E	-	3	2	CD160	144415561	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	0.482000	0.22276	1.036000	0.39998	0.563000	0.77884	GAG		0.438	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		10	78	0	0	0	0	10	78				
MRPL9	65005	broad.mit.edu	37	1	151732587	151732587	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:151732587T>C	ENST00000368830.3	-	7	827	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	RP11-98D18.15_ENST00000601684.1_RNA|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000315067.8_5'Flank|MRPL9_ENST00000368829.3_Missense_Mutation_p.Y214C	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	248					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTACTTATATCTTTTGGT	0.498																																						uc001eyv.2		NA																	0				ovary(1)	1						c.(742-744)TAT>TGT		mitochondrial ribosomal protein L9 precursor							86.0	84.0	85.0					1																	151732587		2203	4300	6503	SO:0001583	missense	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151732587T>C	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.743A>G	1.37:g.151732587T>C	ENSP00000357823:p.Tyr248Cys					MRPL9_uc009wmz.2_RNA	p.Y248C	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	828	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		248					B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	c.743A>G	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134076	0.37630	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.35236	1.33;1.32	5.16	5.16	0.70880	.	0.589487	0.16610	N	0.206947	T	0.40979	0.1139	L	0.57536	1.79	0.35112	D	0.76623	D	0.76494	0.999	P	0.61132	0.884	T	0.46233	-0.9206	10	0.66056	D	0.02	-1.2972	11.3139	0.49379	0.0:0.0:0.0:1.0	.	248	Q9BYD2	RM09_HUMAN	C	248;214	ENSP00000357823:Y248C;ENSP00000357822:Y214C	ENSP00000357822:Y214C	Y	-	2	0	MRPL9	149999211	1.000000	0.71417	0.945000	0.38365	0.096000	0.18686	4.350000	0.59392	2.157000	0.67596	0.528000	0.53228	TAT		0.498	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		6	50	0	0	0	0	6	50				
TDRD10	126668	broad.mit.edu	37	1	154492809	154492809	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:154492809C>T	ENST00000368480.3	+	5	256	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TDRD10_ENST00000368482.4_Silent_p.F57F			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423																																						uc009wow.2		NA																	0				ovary(1)	1						c.(169-171)TTC>TTT		tudor domain containing 10 isoform a							154.0	148.0	150.0					1																	154492809		1922	4140	6062	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154492809C>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.171C>T	1.37:g.154492809C>T						TDRD10_uc001ffd.2_Silent_p.F57F|TDRD10_uc001ffe.2_5'Flank	p.F57F	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1009	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		57			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.171C>T	CCDS41406.1																																																																																				0.423	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		6	54	0	0	0	0	6	54				
ADAMTS4	9507	broad.mit.edu	37	1	161167904	161167904	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:161167904A>G	ENST00000367996.5	-	1	942	c.514T>C	c.(514-516)Tct>Cct	p.S172P	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.S172P	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	172					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCCCCAGCAGAGTTAGGGGTG	0.637																																						uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(514-516)TCT>CCT		ADAM metallopeptidase with thrombospondin type 1							54.0	53.0	54.0					1																	161167904		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167904A>G	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.514T>C	1.37:g.161167904A>G	ENSP00000356975:p.Ser172Pro					ADAMTS4_uc001fyu.2_Missense_Mutation_p.S172P|NDUFS2_uc001fyv.2_5'Flank	p.S172P	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	942	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		172					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.514T>C	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805890	0.31961	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.65732	-0.06;-0.17	5.26	5.26	0.73747	.	0.243594	0.29572	N	0.011780	T	0.59865	0.2225	L	0.43152	1.355	0.80722	D	1	D;B	0.76494	0.999;0.012	D;B	0.72338	0.977;0.02	T	0.63514	-0.6620	10	0.41790	T	0.15	.	8.4084	0.32629	0.7189:0.0:0.0:0.2811	.	172;172	Q5VTW1;O75173	.;ATS4_HUMAN	P	172	ENSP00000356975:S172P;ENSP00000356974:S172P	ENSP00000356974:S172P	S	-	1	0	ADAMTS4	159434528	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	1.555000	0.36277	1.975000	0.57531	0.402000	0.26972	TCT		0.637	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		8	56	0	0	0	0	8	56				
PAPPA2	60676	broad.mit.edu	37	1	176738784	176738784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:176738784G>C	ENST00000367662.3	+	16	5529	c.4365G>C	c.(4363-4365)caG>caC	p.Q1455H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1455	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGGACCAGAATGTGAGCT	0.468																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4363-4365)CAG>CAC		pappalysin 2 isoform 1							130.0	122.0	124.0					1																	176738784		1919	4131	6050	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738784G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4365G>C	1.37:g.176738784G>C	ENSP00000356634:p.Gln1455His					PAPPA2_uc009www.2_RNA	p.Q1455H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5529	+			1455			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4365G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222016	0.39300	.	.	ENSG00000116183	ENST00000367662	T	0.76448	-1.02	6.17	2.96	0.34315	Sushi/SCR/CCP (1);	1.019430	0.07788	N	0.954510	T	0.68604	0.3019	L	0.43152	1.355	0.09310	N	1	B	0.29862	0.259	B	0.27887	0.084	T	0.59220	-0.7495	10	0.54805	T	0.06	0.114	5.0866	0.14687	0.2469:0.1773:0.5759:0.0	.	1455	Q9BXP8	PAPP2_HUMAN	H	1455	ENSP00000356634:Q1455H	ENSP00000356634:Q1455H	Q	+	3	2	PAPPA2	175005407	0.001000	0.12720	0.009000	0.14445	0.877000	0.50540	1.129000	0.31381	0.925000	0.37094	-0.140000	0.14226	CAG		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			16	57	0	0	0	0	16	57				
DDX59	83479	broad.mit.edu	37	1	200635068	200635068	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:200635068G>A	ENST00000331314.6	-	2	1014	c.801C>T	c.(799-801)ttC>ttT	p.F267F	DDX59_ENST00000447706.2_Silent_p.F267F|DDX59_ENST00000367348.3_Silent_p.F267F	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	267	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CACTTACCTCGAATAAAGCTC	0.368																																						uc009wzk.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(799-801)TTC>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							49.0	50.0	50.0					1																	200635068		2203	4300	6503	SO:0001819	synonymous_variant	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635068G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.801C>T	1.37:g.200635068G>A						DDX59_uc010ppl.1_Silent_p.F267F	p.F267F	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	1044	-			267			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	c.801C>T	CCDS30964.1																																																																																				0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		6	46	0	0	0	0	6	46				
C1orf186	440712	broad.mit.edu	37	1	206243180	206243180	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:206243180C>T	ENST00000331555.5	-	3	720	c.82G>A	c.(82-84)Gcc>Acc	p.A28T		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	28						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TAGTTGATGGCGGTGAGGAAG	0.557																																						uc001hdt.1		NA																	0					0						c.(82-84)GCC>ACC		hypothetical protein LOC440712							109.0	97.0	101.0					1																	206243180		2203	4300	6503	SO:0001583	missense	440712					integral to membrane		g.chr1:206243180C>T	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.82G>A	1.37:g.206243180C>T	ENSP00000356093:p.Ala28Thr						p.A28T	NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		3	721	-			28			Helical; (Potential).			Missense_Mutation	SNP	ENST00000331555.5	37	c.82G>A	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935514	0.34189	.	.	ENSG00000196533	ENST00000331555	.	.	.	3.06	3.06	0.35304	.	0.878029	0.09458	N	0.799478	T	0.28101	0.0693	L	0.29908	0.895	0.09310	N	1	D	0.60160	0.987	B	0.42138	0.377	T	0.11324	-1.0592	9	0.56958	D	0.05	-31.8513	9.8622	0.41120	0.0:1.0:0.0:0.0	.	28	Q6ZWK4	CA186_HUMAN	T	28	.	ENSP00000356093:A28T	A	-	1	0	C1orf186	204409803	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.655000	0.24933	2.028000	0.59812	0.561000	0.74099	GCC		0.557	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		13	53	0	0	0	0	13	53				
PLXNA2	5362	broad.mit.edu	37	1	208205080	208205080	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:208205080C>T	ENST00000367033.3	-	29	5837	c.5080G>A	c.(5080-5082)Gac>Aac	p.D1694N	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1694					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAAACAAGTCGTCCACAAAC	0.577																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5080-5082)GAC>AAC		plexin A2 precursor							63.0	58.0	59.0					1																	208205080		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208205080C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5080G>A	1.37:g.208205080C>T	ENSP00000356000:p.Asp1694Asn					PLXNA2_uc001hgy.2_5'Flank	p.D1694N	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	29	5838	-			1694			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5080G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688235	0.88639	.	.	ENSG00000076356	ENST00000367033	T	0.15834	2.39	4.55	4.55	0.56014	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050197	0.85682	D	0.000000	T	0.28665	0.0710	L	0.57130	1.785	0.80722	D	1	D	0.58620	0.983	P	0.49752	0.621	T	0.08207	-1.0733	10	0.87932	D	0	.	17.5414	0.87849	0.0:1.0:0.0:0.0	.	1694	O75051	PLXA2_HUMAN	N	1694	ENSP00000356000:D1694N	ENSP00000356000:D1694N	D	-	1	0	PLXNA2	206271703	1.000000	0.71417	0.928000	0.36995	0.623000	0.37688	7.366000	0.79548	2.369000	0.80426	0.655000	0.94253	GAC		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		11	49	0	0	0	0	11	49				
USH2A	7399	broad.mit.edu	37	1	215901489	215901489	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:215901489C>T	ENST00000307340.3	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000366943.2_Silent_p.L3983L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25. {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)		TTGTCCAATTCAACAGAACTG	0.498										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11947-11949)TTG>TTA		usherin isoform B							114.0	110.0	112.0					1																	215901489		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:215901489C>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.11949G>A	1.37:g.215901489C>T		HNSCC(13;0.011)					p.L3983L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12336	-			3983			Fibronectin type-III 25.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11949G>A	CCDS31025.1																																																																																				0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	91	0	0	0	0	14	91				
ARID4B	51742	broad.mit.edu	37	1	235345577	235345577	+	Missense_Mutation	SNP	C	C	G	rs373402838		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:235345577C>G	ENST00000264183.3	-	20	3154	c.2657G>C	c.(2656-2658)aGa>aCa	p.R886T	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.R800T|ARID4B_ENST00000366603.2_Missense_Mutation_p.R886T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	886					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGAGATTTTCTTTTTTCCTC	0.348																																						uc001hwq.2		NA																	0				ovary(2)|lung(1)	3						c.(2656-2658)AGA>ACA		AT rich interactive domain 4B isoform 1							104.0	103.0	103.0					1																	235345577		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345577C>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2657G>C	1.37:g.235345577C>G	ENSP00000264183:p.Arg886Thr					ARID4B_uc001hwr.2_Missense_Mutation_p.R800T|ARID4B_uc001hws.3_Missense_Mutation_p.R800T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.R567T	p.R886T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3155	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	886					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2657G>C	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.958557|2.958557	0.53400|0.53400	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.24538	.|1.85;1.89;1.89	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.449907	.|0.27700	.|N	.|0.018214	T|T	0.37100|0.37100	0.0991|0.0991	N|N	0.14661|0.14661	0.345|0.345	0.44388|0.44388	D|D	0.997296|0.997296	.|D;D;D;B	.|0.67145	.|0.996;0.992;0.991;0.15	.|D;D;D;B	.|0.77557	.|0.99;0.974;0.964;0.027	T|T	0.33803|0.33803	-0.9854|-0.9854	5|10	.|0.52906	.|T	.|0.07	-21.9407|-21.9407	19.6767|19.6767	0.95936|0.95936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|567;886;800;886	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	Q|T	286|886;800;886;886	.|ENSP00000264184:R800T;ENSP00000355562:R886T;ENSP00000264183:R886T	.|ENSP00000264183:R886T	E|R	-|-	1|2	0|0	ARID4B|ARID4B	233412200|233412200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.277000|2.277000	0.43417|0.43417	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.348	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		20	92	0	0	0	0	20	92				
HEATR1	55127	broad.mit.edu	37	1	236722359	236722359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:236722359C>T	ENST00000366582.3	-	35	4961	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	HEATR1_ENST00000366581.2_Missense_Mutation_p.R1535H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1616					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGCTTTGCGGCGAACAGATGG	0.458																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(4846-4848)CGC>CAC		protein BAP28							111.0	104.0	106.0					1																	236722359		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236722359C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4847G>A	1.37:g.236722359C>T	ENSP00000355541:p.Arg1616His					HEATR1_uc009xgh.1_Missense_Mutation_p.R778H	p.R1616H	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		35	4972	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1616					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4847G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531063	0.85706	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.74421	-0.84;-0.84	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.961;0.999	D	0.88694	0.3211	10	0.72032	D	0.01	.	20.0413	0.97592	0.0:1.0:0.0:0.0	.	1535;1616	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	1616;1535	ENSP00000355541:R1616H;ENSP00000355540:R1535H	ENSP00000355540:R1535H	R	-	2	0	HEATR1	234788982	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	7.240000	0.78192	2.751000	0.94390	0.650000	0.86243	CGC		0.458	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		14	55	0	0	0	0	14	55				
FAM208B	54906	broad.mit.edu	37	10	5804550	5804550	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:5804550T>C	ENST00000328090.5	+	20	7855	c.7230T>C	c.(7228-7230)gaT>gaC	p.D2410D	GDI2_ENST00000479928.1_5'Flank	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2410																	TTGTTACAGATGTAAATAACT	0.303																																						uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(7228-7230)GAT>GAC		hypothetical protein LOC54906							62.0	62.0	62.0					10																	5804550		1788	4048	5836	SO:0001819	synonymous_variant	54906							g.chr10:5804550T>C	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.7230T>C	10.37:g.5804550T>C						C10orf18_uc001iik.2_Silent_p.D1254D	p.D2410D	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			20	7855	+			2410					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.7230T>C	CCDS41485.1																																																																																				0.303	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		8	71	0	0	0	0	8	71				
PCDH15	65217	broad.mit.edu	37	10	55700733	55700733	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:55700733G>C	ENST00000320301.6	-	24	3519	c.3125C>G	c.(3124-3126)cCt>cGt	p.P1042R	PCDH15_ENST00000395433.1_Missense_Mutation_p.P1020R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1042R|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1042R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1047R|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1005R|PCDH15_ENST00000409834.1_Missense_Mutation_p.P653R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1049R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P971R|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1049R|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1042R|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1042	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				TACTGGAGGAGGTCTGCAGGT	0.348										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3124-3126)CCT>CGT		protocadherin 15 isoform CD1-4 precursor							85.0	81.0	82.0					10																	55700733		2203	4300	6503	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.chr10:55700733G>C	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	ENST00000320301.6:c.3125C>G	10.37:g.55700733G>C	ENSP00000322604:p.Pro1042Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P1047R|PCDH15_uc010qhr.1_Missense_Mutation_p.P1042R|PCDH15_uc010qhs.1_Missense_Mutation_p.P1054R|PCDH15_uc010qht.1_Missense_Mutation_p.P1049R|PCDH15_uc010qhu.1_Missense_Mutation_p.P1042R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1042R|PCDH15_uc010qhw.1_Missense_Mutation_p.P1005R|PCDH15_uc010qhx.1_Missense_Mutation_p.P971R|PCDH15_uc010qhy.1_Missense_Mutation_p.P1047R|PCDH15_uc010qhz.1_Missense_Mutation_p.P1042R|PCDH15_uc010qia.1_Missense_Mutation_p.P1020R|PCDH15_uc010qib.1_Missense_Mutation_p.P1020R	p.P1042R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			24	3520	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1042			Cadherin 10.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3125C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580134	0.65992	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;1.19;0.18;1.19;1.19;0.18	5.23	5.23	0.72850	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.64382	0.2593	N	0.25485	0.75	0.42704	D	0.993627	D;D;D;P;D;D;D;P;D;P;P;D;D	0.71674	0.998;0.992;0.992;0.901;0.983;0.992;0.996;0.67;0.982;0.94;0.935;0.964;0.982	D;P;P;B;P;P;D;P;P;P;P;P;P	0.68353	0.957;0.791;0.791;0.402;0.889;0.791;0.957;0.449;0.714;0.603;0.573;0.449;0.714	T	0.67444	-0.5669	9	0.59425	D	0.04	.	16.0818	0.81010	0.0:0.0:1.0:0.0	.	1020;1042;1042;1047;971;1005;1042;1042;1049;1049;1042;1047;1042	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	1049;1047;1042;1042;653;1049;1005;1042;1020;1042;1042;1047;971	ENSP00000363076:P1049R;ENSP00000410304:P1047R;ENSP00000378826:P1042R;ENSP00000386693:P653R;ENSP00000378832:P1049R;ENSP00000378820:P1005R;ENSP00000354950:P1042R;ENSP00000378821:P1020R;ENSP00000322604:P1042R;ENSP00000378818:P1042R;ENSP00000412628:P971R	ENSP00000322604:P1042R	P	-	2	0	PCDH15	55370739	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.436000	0.73417	2.602000	0.87976	0.484000	0.47621	CCT		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	21	0	0	0	0	5	21				
TACR2	6865	broad.mit.edu	37	10	71166838	71166838	+	Splice_Site	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:71166838A>G	ENST00000373306.4	-	4	1482		c.e4+1		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTGGGGGCTCACCTGTGGTTG	0.602																																						uc001jpn.2		NA																	0				prostate(1)	1						c.e4+1		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						134.0	119.0	125.0					10																	71166838		2203	4300	6503	SO:0001630	splice_region_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71166838A>G		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.938+1T>C	10.37:g.71166838A>G						TACR2_uc001jpm.2_Splice_Site_p.R101_splice	p.R313_splice	NM_001057	NP_001048	P21452	NK2R_HUMAN			4	1533	-								A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Splice_Site	SNP	ENST00000373306.4	37	c.938_splice	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918954	0.73098	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9222	0.70847	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TACR2	70836844	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.457000	0.80775	1.926000	0.55796	0.454000	0.30748	.		0.602	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1		Intron	8	56	0	0	0	0	8	56				
RGR	5995	broad.mit.edu	37	10	86014100	86014100	+	Silent	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:86014100C>G	ENST00000359452.4	+	5	581	c.543C>G	c.(541-543)ctC>ctG	p.L181L	RGR_ENST00000358110.5_Silent_p.L177L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	177					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCTTCCTCTTCACCATGT	0.562																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1		NA																	0				ovary(1)	1						c.(529-531)CTC>CTG		retinal G-protein coupled receptor isoform 2							215.0	184.0	195.0					10																	86014100		2203	4300	6503	SO:0001819	synonymous_variant	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86014100C>G	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.543C>G	10.37:g.86014100C>G						RGR_uc001kdd.1_Silent_p.L181L|RGR_uc001kde.1_Silent_p.L177L	p.L177L	NM_001012720	NP_001012738	P47804	RGR_HUMAN			5	569	+			177			Helical; Name=5; (Potential).		A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	c.531C>G	CCDS7374.1																																																																																				0.562	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		7	68	0	0	0	0	7	68				
PDZD8	118987	broad.mit.edu	37	10	119049706	119049706	+	Missense_Mutation	SNP	C	C	T	rs150304837		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:119049706C>T	ENST00000334464.5	-	4	1491	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	418	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTCCAATGGCGATAAGTCGA	0.423																																						uc001lde.1		NA																	0					0						c.(1252-1254)GCC>ACC		PDZ domain containing 8		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	85.0	78.0	80.0		1252	5.5	1.0	10	dbSNP_134	80	0,8600		0,0,4300	no	missense	PDZD8	NM_173791.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	418/1155	119049706	1,13005	2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119049706C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1252G>A	10.37:g.119049706C>T	ENSP00000334642:p.Ala418Thr						p.A418T	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	4	1451	-		Colorectal(252;0.19)	418			PDZ.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1252G>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833201	0.91036	2.27E-4	0.0	ENSG00000165650	ENST00000334464	T	0.73363	-0.74	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.81795	0.4898	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.83196	-0.0081	10	0.72032	D	0.01	-12.6644	17.5358	0.87830	0.0:1.0:0.0:0.0	.	418	Q8NEN9	PDZD8_HUMAN	T	418	ENSP00000334642:A418T	ENSP00000334642:A418T	A	-	1	0	PDZD8	119039696	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.372000	0.79612	2.584000	0.87258	0.563000	0.77884	GCC		0.423	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		13	47	0	0	0	0	13	47				
GRK5	2869	broad.mit.edu	37	10	121156241	121156241	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:121156241G>A	ENST00000392870.2	+	4	625	c.296G>A	c.(295-297)gGa>gAa	p.G99E	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	99	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAAAAACTGGGAGAGAAAGGG	0.423																																						uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(295-297)GGA>GAA		G protein-coupled receptor kinase 5							122.0	125.0	124.0					10																	121156241		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121156241G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.296G>A	10.37:g.121156241G>A	ENSP00000376609:p.Gly99Glu					GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	p.G99E	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	4	529	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	99			N-terminal.|RGS.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.296G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215837	0.22373	.	.	ENSG00000198873	ENST00000392870	T	0.01821	4.62	5.32	5.32	0.75619	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.49305	U	0.000156	T	0.02193	0.0068	N	0.19112	0.55	0.80722	D	1	B	0.34181	0.44	B	0.40782	0.34	T	0.64774	-0.6328	10	0.09338	T	0.73	-7.5243	17.758	0.88455	0.0:0.0:1.0:0.0	.	99	P34947	GRK5_HUMAN	E	99	ENSP00000376609:G99E	ENSP00000376609:G99E	G	+	2	0	GRK5	121146231	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	4.559000	0.60796	2.477000	0.83638	0.591000	0.81541	GGA		0.423	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		13	75	0	0	0	0	13	75				
RIC8A	60626	broad.mit.edu	37	11	209868	209868	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:209868G>A	ENST00000526104.1	+	3	1938	c.594G>A	c.(592-594)ctG>ctA	p.L198L	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.L198L|RIC8A_ENST00000527696.1_Silent_p.L192L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	198					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACTGGAGCTGACGCTGGGGG	0.597																																						uc001log.2		NA																	0					0						c.(592-594)CTG>CTA		resistance to inhibitors of cholinesterase 8							51.0	48.0	49.0					11																	209868		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209868G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.594G>A	11.37:g.209868G>A						BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.L198L|RIC8A_uc001loh.2_Silent_p.L191L	p.L198L	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	919	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	198					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.594G>A																																																																																					0.597	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		12	47	0	0	0	0	12	47				
PDDC1	347862	broad.mit.edu	37	11	773582	773582	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:773582T>C	ENST00000319863.8	-	4	316	c.295A>G	c.(295-297)Acc>Gcc	p.T99A	PDDC1_ENST00000442059.2_Missense_Mutation_p.T49A|PDDC1_ENST00000526325.1_Missense_Mutation_p.T99A|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Missense_Mutation_p.T99A|PDDC1_ENST00000524550.1_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	99						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAGGTCGGTCAGGGCCCCA	0.637																																						uc001lrc.2		NA																	0					0						c.(295-297)ACC>GCC		Parkinson disease 7 domain containing 1							31.0	30.0	31.0					11																	773582		2202	4297	6499	SO:0001583	missense	347862					extracellular region		g.chr11:773582T>C	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.295A>G	11.37:g.773582T>C	ENSP00000321691:p.Thr99Ala					PDDC1_uc010qwm.1_Missense_Mutation_p.T49A|PDDC1_uc001lrd.2_Missense_Mutation_p.T99A|PDDC1_uc001lrf.1_Intron|PDDC1_uc001lrg.1_Intron|PDDC1_uc009ycg.2_Missense_Mutation_p.T49A|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Intron|PDDC1_uc010qwq.1_Intron|PDDC1_uc010qwr.1_Missense_Mutation_p.T99A|PDDC1_uc010qws.1_Missense_Mutation_p.T49A	p.T99A	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	320	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	99					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.295A>G	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	T	2.614	-0.290142	0.05568	.	.	ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000526325;ENST00000442059	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.57	-4.37	0.03633	ThiJ/PfpI (1);	1.111240	0.06761	N	0.781820	T	0.56587	0.1995	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.33137	-0.9880	10	0.23302	T	0.38	-2.8076	4.4186	0.11468	0.3377:0.2166:0.0:0.4457	.	49;99;99	B7Z1J9;Q8NB37-2;Q8NB37	.;.;PDDC1_HUMAN	A	37;99;99;23;99;49	ENSP00000437068:T37A;ENSP00000380612:T99A;ENSP00000321691:T99A;ENSP00000434839:T23A;ENSP00000433322:T99A;ENSP00000397890:T49A	ENSP00000321691:T99A	T	-	1	0	PDDC1	763582	0.957000	0.32711	0.020000	0.16555	0.396000	0.30629	0.865000	0.27940	-0.832000	0.04251	-1.117000	0.02048	ACC		0.637	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		3	21	0	0	0	0	3	21				
MUC15	143662	broad.mit.edu	37	11	26587071	26587071	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:26587071A>G	ENST00000455601.2	-	2	453	c.335T>C	c.(334-336)tTg>tCg	p.L112S	MUC15_ENST00000529533.1_Missense_Mutation_p.L139S|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.L139S|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.L139S|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.L139S|ANO3_ENST00000525139.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	112					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GCTATGGATCAAGGGAGGGCT	0.453																																						uc001mqx.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(334-336)TTG>TCG		mucin 15 isoform b							167.0	151.0	157.0					11																	26587071		2203	4299	6502	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587071A>G	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.335T>C	11.37:g.26587071A>G	ENSP00000397339:p.Leu112Ser					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.L139S|MUC15_uc001mqy.2_Missense_Mutation_p.L139S	p.L112S	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	601	-			112			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.335T>C	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642818	0.29246	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.26957	1.77;1.74;1.7;1.74;1.7	4.66	1.15	0.20763	.	0.711485	0.12308	N	0.480438	T	0.18467	0.0443	L	0.31926	0.97	0.09310	N	1	P;B;B	0.36144	0.539;0.129;0.297	B;B;B	0.38428	0.273;0.117;0.189	T	0.16158	-1.0412	10	0.41790	T	0.15	-7.386	5.8937	0.18927	0.6789:0.0:0.3211:0.0	.	139;112;139	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	S	112;139;139;139;139	ENSP00000397339:L112S;ENSP00000416753:L139S;ENSP00000281268:L139S;ENSP00000431983:L139S;ENSP00000431945:L139S	ENSP00000281268:L139S	L	-	2	0	MUC15	26543647	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.211000	0.32382	0.358000	0.24211	0.528000	0.53228	TTG		0.453	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		6	93	0	0	0	0	6	93				
KIAA1549L	25758	broad.mit.edu	37	11	33620472	33620472	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:33620472G>C	ENST00000321505.4	+	12	4147	c.3967G>C	c.(3967-3969)Gag>Cag	p.E1323Q	KIAA1549L_ENST00000265654.5_3'UTR|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1329Q			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1323						integral component of membrane (GO:0016021)											AGTGACAAAGGAGGAGGCAAG	0.577																																						uc001mup.3		NA																	0				ovary(2)	2						c.(3985-3987)GAG>CAG		hypothetical protein LOC25758							101.0	117.0	112.0					11																	33620472		2117	4216	6333	SO:0001583	missense	25758					integral to membrane		g.chr11:33620472G>C	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.3967G>C	11.37:g.33620472G>C	ENSP00000315295:p.Glu1323Gln					C11orf41_uc001mun.1_3'UTR	p.E1329Q	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			12	4109	+			1323					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3985G>C	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.569551|4.569551	0.86439|0.86439	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.048839|.	0.85682|.	D|.	0.000000|.	T|T	0.71693|0.71693	0.3370|0.3370	L|L	0.57536|0.57536	1.79|1.79	0.44899|0.44899	D|D	0.997912|0.997912	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.70350|0.70350	-0.4896|-0.4896	9|5	0.44086|.	T|.	0.13|.	-18.003|-18.003	18.1045|18.1045	0.89516|0.89516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1329|.	E9PAT2|.	.|.	Q|S	1323;1329;1162|720	.|.	ENSP00000315295:E1323Q|.	E|R	+|+	1|3	0|2	C11orf41|C11orf41	33577048|33577048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.363000|9.363000	0.97131|0.97131	2.294000|2.294000	0.77228|0.77228	0.491000|0.491000	0.48974|0.48974	GAG|AGG		0.577	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	22	0	0	0	0	5	22				
ARHGAP1	392	broad.mit.edu	37	11	46702656	46702656	+	Missense_Mutation	SNP	G	G	T	rs373742878		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46702656G>T	ENST00000311956.4	-	7	637	c.540C>A	c.(538-540)ttC>ttA	p.F180L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	180	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|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)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCCCGAACTTGAAGCTGTTGG	0.602																																						uc001ndd.2		NA																	0				skin(1)	1						c.(538-540)TTC>TTA		Rho GTPase activating protein 1							85.0	90.0	88.0					11																	46702656		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46702656G>T	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.540C>A	11.37:g.46702656G>T	ENSP00000310491:p.Phe180Leu						p.F180L	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	7	609	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	180			CRAL-TRIO.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.540C>A	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.483693|1.483693	0.26598|0.26598	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488|ENST00000528837	T;T|.	0.25414|.	1.8;1.8|.	5.28|5.28	4.36|4.36	0.52297|0.52297	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.045275|.	0.85682|.	D|.	0.000000|.	T|T	0.54615|0.54615	0.1869|0.1869	L|L	0.40543|0.40543	1.245|1.245	0.54753|0.54753	D|D	0.999987|0.999987	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.49418|0.49418	-0.8942|-0.8942	10|5	0.10111|.	T|.	0.7|.	.|.	9.7672|9.7672	0.40567|0.40567	0.1793:0.0:0.8207:0.0|0.1793:0.0:0.8207:0.0	.|.	180|.	Q07960|.	RHG01_HUMAN|.	L|K	180|134	ENSP00000310491:F180L;ENSP00000432794:F180L|.	ENSP00000310491:F180L|.	F|Q	-|-	3|1	2|0	ARHGAP1|ARHGAP1	46659232|46659232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	0.942000|0.942000	0.29017|0.29017	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.602	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		4	42	1	0	0.00909568	0.0093116	4	42				
CKAP5	9793	broad.mit.edu	37	11	46771969	46771969	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46771969T>C	ENST00000529230.1	-	42	5605	c.5559A>G	c.(5557-5559)ttA>ttG	p.L1853L	CKAP5_ENST00000354558.3_Silent_p.L1793L|CKAP5_ENST00000312055.5_Silent_p.L1793L|CKAP5_ENST00000415402.1_Silent_p.L1860L|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1853					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATATTCATATAACTCTGCTA	0.428																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(5557-5559)TTA>TTG		colonic and hepatic tumor over-expressed protein							105.0	103.0	103.0					11																	46771969		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46771969T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5559A>G	11.37:g.46771969T>C						CKAP5_uc009ylg.1_Silent_p.L1746L|CKAP5_uc001ndj.1_Silent_p.L1793L|CKAP5_uc001ndh.1_Silent_p.L782L	p.L1853L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			42	5669	-			1853					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.5559A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	8.482	0.860034	0.17178	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.58	-0.645	0.11475	.	.	.	.	.	T	0.57021	0.2025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51996	-0.8634	4	.	.	.	-15.1455	10.1217	0.42625	0.0:0.6123:0.0:0.3877	.	.	.	.	V	92	.	.	I	-	1	0	CKAP5	46728545	0.991000	0.36638	0.997000	0.53966	0.962000	0.63368	0.279000	0.18771	-0.121000	0.11787	0.449000	0.29647	ATA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		15	51	0	0	0	0	15	51				
MADD	8567	broad.mit.edu	37	11	47305742	47305742	+	Missense_Mutation	SNP	A	A	G	rs191553785		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:47305742A>G	ENST00000311027.5	+	11	2041	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	MADD_ENST00000402799.1_Missense_Mutation_p.M626V|MADD_ENST00000395336.3_Missense_Mutation_p.M626V|MADD_ENST00000406482.1_Missense_Mutation_p.M626V|MADD_ENST00000395344.3_Missense_Mutation_p.M626V|MADD_ENST00000342922.4_Missense_Mutation_p.M626V|MADD_ENST00000402192.2_Missense_Mutation_p.M626V|MADD_ENST00000407859.3_Missense_Mutation_p.M626V|MADD_ENST00000349238.3_Missense_Mutation_p.M626V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTGATAGTATGGATTATGA	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		20392	0.0		0.001	False		,,,				2504	0.0					uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(1876-1878)ATG>GTG		MAP-kinase activating death domain-containing							174.0	154.0	161.0					11																	47305742		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47305742A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1876A>G	11.37:g.47305742A>G	ENSP00000310933:p.Met626Val					MADD_uc001neq.2_Missense_Mutation_p.M626V|MADD_uc001nev.1_Missense_Mutation_p.M626V|MADD_uc001nes.1_Missense_Mutation_p.M626V|MADD_uc001net.1_Missense_Mutation_p.M626V|MADD_uc009yln.1_Missense_Mutation_p.M626V|MADD_uc001neu.1_Missense_Mutation_p.M626V|MADD_uc001nex.2_Missense_Mutation_p.M626V|MADD_uc001nez.2_Missense_Mutation_p.M626V|MADD_uc001new.2_Missense_Mutation_p.M626V	p.M626V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	11	2067	+			626						Missense_Mutation	SNP	ENST00000311027.5	37	c.1876A>G	CCDS7930.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	12.34	1.908375	0.33721	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.04970	3.66;3.53;3.53;3.66;3.65;3.52;3.53;3.65;3.66	6.04	3.68	0.42216	.	0.233442	0.51477	D	0.000096	T	0.01222	0.0040	N	0.00289	-1.7	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.35943	-0.9768	10	0.10902	T	0.67	-16.0429	2.3817	0.04356	0.4726:0.2908:0.2365:0.0	.	626;626;626;626;626;626;626;626;626;626	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	626	ENSP00000343902:M626V;ENSP00000385585:M626V;ENSP00000384435:M626V;ENSP00000304505:M626V;ENSP00000310933:M626V;ENSP00000384204:M626V;ENSP00000378753:M626V;ENSP00000378745:M626V;ENSP00000384287:M626V	ENSP00000310933:M626V	M	+	1	0	MADD	47262318	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.502000	0.53332	1.072000	0.40860	0.460000	0.39030	ATG		0.423	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			16	93	0	0	0	0	16	93				
RCOR2	283248	broad.mit.edu	37	11	63681511	63681511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:63681511C>T	ENST00000301459.4	-	8	1193	c.806G>A	c.(805-807)gGc>gAc	p.G269D	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	269					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGCCGTGAGGCCTTCAGGGCT	0.642																																						uc001nyc.2		NA																	0				ovary(1)|skin(1)	2						c.(805-807)GGC>GAC		REST corepressor 2							101.0	100.0	101.0					11																	63681511		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63681511C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.806G>A	11.37:g.63681511C>T	ENSP00000301459:p.Gly269Asp						p.G269D	NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN			8	1194	-			269					Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.806G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.406766	0.01155	.	.	ENSG00000167771	ENST00000301459	T	0.29917	1.55	4.58	3.64	0.41730	.	0.159570	0.53938	N	0.000051	T	0.03695	0.0105	N	0.00037	-2.525	0.41092	D	0.985607	B	0.06786	0.001	B	0.04013	0.001	T	0.28870	-1.0030	10	0.02654	T	1	.	4.106	0.10037	0.1989:0.6253:0.0:0.1759	.	269	Q8IZ40	RCOR2_HUMAN	D	269	ENSP00000301459:G269D	ENSP00000301459:G269D	G	-	2	0	RCOR2	63438087	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	3.224000	0.51238	1.235000	0.43724	0.561000	0.74099	GGC		0.642	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		17	129	0	0	0	0	17	129				
UVRAG	7405	broad.mit.edu	37	11	75826972	75826972	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:75826972G>A	ENST00000356136.3	+	14	1551	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	UVRAG_ENST00000528420.1_Missense_Mutation_p.R336K|UVRAG_ENST00000532130.1_Missense_Mutation_p.R65K|UVRAG_ENST00000533454.1_Missense_Mutation_p.R65K|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.R65K|UVRAG_ENST00000539288.1_Missense_Mutation_p.R65K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	437					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCACAGCTAAGATATCAACAT	0.373																																						uc001oxc.2		NA																	0				skin(4)|lung(2)	6						c.(1309-1311)AGA>AAA		UV radiation resistance associated							82.0	74.0	77.0					11																	75826972		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75826972G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1310G>A	11.37:g.75826972G>A	ENSP00000348455:p.Arg437Lys					UVRAG_uc010rrw.1_Missense_Mutation_p.R336K|UVRAG_uc001oxd.2_Missense_Mutation_p.R65K|UVRAG_uc010rrx.1_Missense_Mutation_p.R65K|UVRAG_uc010rry.1_5'UTR	p.R437K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			14	1551	+			437					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1310G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761009	0.69763	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.29655	1.56;1.56	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.21042	-1.0257	10	0.34782	T	0.22	-17.586	17.6702	0.88214	0.0:0.0:1.0:0.0	.	437	Q9P2Y5	UVRAG_HUMAN	K	437;336;65;65;65;65	ENSP00000348455:R437K;ENSP00000436039:R336K	ENSP00000348455:R437K	R	+	2	0	UVRAG	75504620	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	8.521000	0.90569	2.840000	0.97914	0.655000	0.94253	AGA		0.373	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		5	25	0	0	0	0	5	25				
NOX4	50507	broad.mit.edu	37	11	89223667	89223667	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:89223667T>C	ENST00000263317.4	-	2	350	c.112A>G	c.(112-114)Aac>Gac	p.N38D	NOX4_ENST00000535633.1_Missense_Mutation_p.N14D|NOX4_ENST00000534731.1_Missense_Mutation_p.N38D|NOX4_ENST00000532825.1_Missense_Mutation_p.N14D|NOX4_ENST00000542487.1_Missense_Mutation_p.N14D|NOX4_ENST00000393282.2_Missense_Mutation_p.N38D|NOX4_ENST00000531342.1_Missense_Mutation_p.N38D|NOX4_ENST00000527626.1_De_novo_Start_OutOfFrame|NOX4_ENST00000413594.2_Missense_Mutation_p.N59D|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.N14D|NOX4_ENST00000424319.1_Missense_Mutation_p.N14D|NOX4_ENST00000343727.5_Missense_Mutation_p.N14D|NOX4_ENST00000525196.1_Missense_Mutation_p.N38D|NOX4_ENST00000375979.3_Missense_Mutation_p.N38D			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	38					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCCCTTGGTTATACAGCAAG	0.418																																						uc001pct.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(112-114)AAC>GAC		NADPH oxidase 4 isoform a							140.0	136.0	137.0					11																	89223667		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89223667T>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.112A>G	11.37:g.89223667T>C	ENSP00000263317:p.Asn38Asp					NOX4_uc009yvr.2_Intron|NOX4_uc001pcu.2_Translation_Start_Site|NOX4_uc001pcw.2_Missense_Mutation_p.N38D|NOX4_uc001pcx.2_Missense_Mutation_p.N38D|NOX4_uc001pcv.2_Missense_Mutation_p.N38D|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Translation_Start_Site|NOX4_uc009yvp.2_Missense_Mutation_p.N38D|NOX4_uc010rtv.1_Missense_Mutation_p.N14D|NOX4_uc009yvq.2_Missense_Mutation_p.N14D|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	p.N38D	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			2	351	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	38			Extracellular (Potential).		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.112A>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313291	0.40996	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.52;-3.52;-3.52;-3.5;-3.54;-3.45;-3.59;-3.52;-3.52;-3.57;-2.94;-2.89	5.23	2.7	0.31948	.	0.278605	0.36268	N	0.002695	D	0.82976	0.5154	N	0.11427	0.14	0.26958	N	0.965888	B;B;B;B;B;B	0.29085	0.001;0.079;0.232;0.039;0.001;0.021	B;B;B;B;B;B	0.20184	0.002;0.013;0.028;0.028;0.004;0.005	T	0.72040	-0.4410	9	.	.	.	-7.8896	4.3596	0.11196	0.2525:0.0:0.17:0.5774	.	14;38;38;38;38;38	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	D	14;14;14;38;38;38;14;14;14;59;38;38;38	ENSP00000412446:N14D;ENSP00000440172:N14D;ENSP00000344747:N14D;ENSP00000436892:N38D;ENSP00000436716:N38D;ENSP00000263317:N38D;ENSP00000434924:N14D;ENSP00000433797:N14D;ENSP00000439373:N14D;ENSP00000405705:N59D;ENSP00000435039:N38D;ENSP00000365146:N38D	.	N	-	1	0	NOX4	88863315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.385000	0.34408	0.799000	0.34018	0.379000	0.24179	AAC		0.418	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		15	63	0	0	0	0	15	63				
RNF214	257160	broad.mit.edu	37	11	117109781	117109781	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:117109781A>T	ENST00000531452.1	+	3	618	c.572A>T	c.(571-573)gAt>gTt	p.D191V	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.D191V	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	191							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CAGGATGATGATCAAGATAGC	0.468																																						uc001pqt.2		NA																	0					0						c.(571-573)GAT>GTT		ring finger protein 214							75.0	76.0	76.0					11																	117109781		1973	4159	6132	SO:0001583	missense	257160						zinc ion binding	g.chr11:117109781A>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.572A>T	11.37:g.117109781A>T	ENSP00000431643:p.Asp191Val					RNF214_uc001pqu.2_Missense_Mutation_p.D191V|RNF214_uc010rxf.1_Intron	p.D191V	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	3	617	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	191					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.572A>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598325	0.66332	.	.	ENSG00000167257	ENST00000531452;ENST00000300650	T;T	0.62364	0.03;0.03	5.67	4.51	0.55191	.	0.215793	0.32769	N	0.005677	T	0.69744	0.3145	L	0.44542	1.39	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.67078	-0.5761	9	.	.	.	-9.0644	10.4623	0.44587	0.8365:0.1635:0.0:0.0	.	191	Q8ND24	RN214_HUMAN	V	191	ENSP00000431643:D191V;ENSP00000300650:D191V	.	D	+	2	0	RNF214	116614991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.165000	0.50778	0.940000	0.37473	0.482000	0.46254	GAT		0.468	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		13	75	0	0	0	0	13	75				
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592																																						uc001qnn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7675-7677)TCG>TTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						38.0	37.0	37.0					12																	6078430		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6078430G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7676C>T	12.37:g.6078430G>A	ENSP00000261405:p.Ser2559Leu					VWF_uc010set.1_Intron	p.S2559L	NM_000552	NP_000543	P04275	VWF_HUMAN			45	7926	-			2559					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7676C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130348	0.01756	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.87	-5.23	0.02798	.	2.276390	0.01853	N	0.036089	T	0.10637	0.0260	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.10377	T	0.69	.	10.4912	0.44752	0.72:0.1164:0.1637:0.0	.	2559	P04275	VWF_HUMAN	L	2559	ENSP00000261405:S2559L	ENSP00000261405:S2559L	S	-	2	0	VWF	5948691	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.528000	0.02225	-0.988000	0.03489	-1.193000	0.01689	TCG		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	49	0	0	0	0	4	49				
CLEC4E	26253	broad.mit.edu	37	12	8687355	8687355	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:8687355G>A	ENST00000299663.3	-	6	704	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.A135V	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	180	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCTCATGGTGGCACAGTCCTC	0.413																																						uc001quo.1		NA																	0				central_nervous_system(1)	1						c.(538-540)GCC>GTC		C-type lectin domain family 4, member E							129.0	120.0	123.0					12																	8687355		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8687355G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.539C>T	12.37:g.8687355G>A	ENSP00000299663:p.Ala180Val						p.A180V	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			6	704	-	Lung SC(5;0.184)		180			C-type lectin.|Extracellular (Potential).		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.539C>T	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.705245	0.00719	.	.	ENSG00000166523	ENST00000299663;ENST00000545274;ENST00000537698	T;T	0.18016	2.44;2.24	5.47	-0.596	0.11657	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.924859	0.09129	N	0.844648	T	0.06096	0.0158	N	0.03281	-0.365	0.19575	N	0.999967	B	0.12630	0.006	B	0.17722	0.019	T	0.39981	-0.9587	10	0.02654	T	1	.	9.2319	0.37441	0.4975:0.0:0.5025:0.0	.	180	Q9ULY5	CLC4E_HUMAN	V	180;135;81	ENSP00000299663:A180V;ENSP00000443034:A135V	ENSP00000299663:A180V	A	-	2	0	CLEC4E	8578622	0.002000	0.14202	0.164000	0.22755	0.047000	0.14425	-0.197000	0.09518	-0.080000	0.12685	-0.143000	0.13931	GCC		0.413	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		18	55	0	0	0	0	18	55				
KLHL42	57542	broad.mit.edu	37	12	27950650	27950650	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:27950650C>T	ENST00000381271.2	+	3	1380	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	357					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTTTCAGACCGGAACATGAA	0.473																																						uc001rij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1069-1071)CGG>TGG		kelch domain containing 5							262.0	250.0	254.0					12																	27950650		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950650C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1069C>T	12.37:g.27950650C>T	ENSP00000370671:p.Arg357Trp					KLHDC5_uc009zjj.2_RNA	p.R357W	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			3	1146	+	Lung SC(9;0.0873)		357			Kelch 4.		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1069C>T	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997646	0.74818	.	.	ENSG00000087448	ENST00000381271	T	0.67523	-0.27	5.04	4.07	0.47477	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	L	0.54323	1.7	0.52501	D	0.999957	D	0.89917	1.0	D	0.87578	0.998	T	0.74067	-0.3784	10	0.38643	T	0.18	.	11.9899	0.53169	0.2423:0.7577:0.0:0.0	.	357	Q9P2K6	KLDC5_HUMAN	W	357	ENSP00000370671:R357W	ENSP00000370671:R357W	R	+	1	2	KLHDC5	27841917	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.013000	0.57138	2.321000	0.78463	0.655000	0.94253	CGG		0.473	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		45	328	0	0	0	0	45	328				
KRT81	3887	broad.mit.edu	37	12	52681054	52681054	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:52681054G>T	ENST00000327741.5	-	7	1147	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	360	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.617																																						uc001sab.2		NA																	0					0						c.(1078-1080)GCC>GAC		keratin, hair, basic, 1							29.0	30.0	30.0					12																	52681054		2202	4295	6497	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681054G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1079C>A	12.37:g.52681054G>T	ENSP00000369349:p.Ala360Asp					KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR	p.A360D	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1129	-			360			Rod.|Coil 2.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.1079C>A	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630234	0.67015	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.74737	-0.87	5.1	5.1	0.69264	Filament (1);	0.169818	0.27577	U	0.018749	D	0.86539	0.5957	M	0.77712	2.385	0.44595	D	0.997567	D	0.59767	0.986	D	0.70227	0.968	D	0.88340	0.2974	10	0.87932	D	0	.	18.5013	0.90882	0.0:0.0:1.0:0.0	.	360	Q14533	KRT81_HUMAN	D	360	ENSP00000369349:A360D	ENSP00000369349:A360D	A	-	2	0	KRT81	50967321	0.997000	0.39634	0.984000	0.44739	0.358000	0.29455	5.633000	0.67825	2.361000	0.80049	0.561000	0.74099	GCC		0.617	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		8	45	1	0	7.48e-07	8.02e-07	8	45				
SOAT2	8435	broad.mit.edu	37	12	53516967	53516967	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:53516967C>T	ENST00000301466.3	+	13	1399	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	447					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GTTCTTCTATCCCGTCATGCT	0.592																																						uc001sbv.2		NA																	0				ovary(1)	1						c.(1339-1341)CCC>TCC		acyl-CoA:cholesterol acyltransferase 2							251.0	195.0	214.0					12																	53516967		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53516967C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1339C>T	12.37:g.53516967C>T	ENSP00000301466:p.Pro447Ser					SOAT2_uc009zms.2_RNA	p.P447S	NM_003578	NP_003569	O75908	SOAT2_HUMAN			13	1427	+			447			Helical; (Potential).		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.1339C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904752	0.92035	.	.	ENSG00000167780	ENST00000301466	T	0.73047	-0.71	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87352	0.2338	10	0.38643	T	0.18	-19.5716	17.5626	0.87911	0.0:1.0:0.0:0.0	.	447	O75908	SOAT2_HUMAN	S	447	ENSP00000301466:P447S	ENSP00000301466:P447S	P	+	1	0	SOAT2	51803234	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	7.248000	0.78268	2.768000	0.95171	0.561000	0.74099	CCC		0.592	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			11	52	0	0	0	0	11	52				
USP15	9958	broad.mit.edu	37	12	62785134	62785134	+	Missense_Mutation	SNP	G	G	C	rs7358652		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:62785134G>C	ENST00000280377.5	+	16	2216	c.2158G>C	c.(2158-2160)Ggc>Cgc	p.G720R	USP15_ENST00000353364.3_Missense_Mutation_p.G691R|USP15_ENST00000393654.3_Missense_Mutation_p.G695R	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	720	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAACAACTTAGGCAATACTGA	0.358																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(2158-2160)GGC>CGC		ubiquitin specific peptidase 15							110.0	108.0	109.0					12																	62785134		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785134G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2158G>C	12.37:g.62785134G>C	ENSP00000280377:p.Gly720Arg					USP15_uc001srb.1_Missense_Mutation_p.G691R	p.G720R	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2167	+			720					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.2158G>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369859	0.82573	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.25579	1.82;1.79;1.81	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43507	-0.9387	9	.	.	.	-6.7177	19.4845	0.95024	0.0:0.0:1.0:0.0	.	720;691	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	R	691;720;695	ENSP00000258123:G691R;ENSP00000280377:G720R;ENSP00000377264:G695R	.	G	+	1	0	USP15	61071401	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.165000	0.94761	2.609000	0.88269	0.655000	0.94253	GGC		0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		12	83	0	0	0	0	12	83				
HECTD4	283450	broad.mit.edu	37	12	112610649	112610649	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:112610649C>T	ENST00000430131.2	-	66	11490	c.10345G>A	c.(10345-10347)Gtc>Atc	p.V3449I	HECTD4_ENST00000377560.5_Missense_Mutation_p.V3699I|HECTD4_ENST00000550722.1_Missense_Mutation_p.V3725I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3449					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCATGTCGGACATCGATGCAT	0.587																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(10345-10347)GTC>ATC		chromosome 12 open reading frame 51							105.0	109.0	108.0					12																	112610649		2151	4235	6386	SO:0001583	missense	283450							g.chr12:112610649C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10345G>A	12.37:g.112610649C>T	ENSP00000404379:p.Val3449Ile						p.V3449I	NM_001109662	NP_001103132					60	10363	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.10345G>A		.	.	.	.	.	.	.	.	.	.	C	13.36	2.214778	0.39102	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.43294	0.95;0.95;0.95	5.63	5.63	0.86233	.	.	.	.	.	T	0.26666	0.0652	N	0.08118	0	0.29036	N	0.885363	B	0.13594	0.008	B	0.12156	0.007	T	0.13980	-1.0489	9	0.56958	D	0.05	.	12.9551	0.58424	0.0:0.9261:0.0:0.0739	.	3449	Q9Y4D8	K0614_HUMAN	I	3699;3449;3725	ENSP00000366783:V3699I;ENSP00000404379:V3449I;ENSP00000449784:V3725I	ENSP00000366783:V3699I	V	-	1	0	C12orf51	111095032	1.000000	0.71417	0.985000	0.45067	0.181000	0.23173	3.489000	0.53237	2.654000	0.90174	0.561000	0.74099	GTC		0.587	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	61	0	0	0	0	7	61				
HECTD4	283450	broad.mit.edu	37	12	112666473	112666473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:112666473C>T	ENST00000430131.2	-	41	6541	c.5396G>A	c.(5395-5397)aGa>aAa	p.R1799K	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2049K|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2075K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1799					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACACAAAGTCTAGACAATGG	0.398																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(5395-5397)AGA>AAA		chromosome 12 open reading frame 51							135.0	131.0	132.0					12																	112666473		1917	4132	6049	SO:0001583	missense	283450							g.chr12:112666473C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5396G>A	12.37:g.112666473C>T	ENSP00000404379:p.Arg1799Lys					C12orf51_uc001ttr.1_5'Flank	p.R1799K	NM_001109662	NP_001103132					35	5414	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5396G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.768894	0.96914	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.60040	0.23;0.24;0.22	6.17	6.17	0.99709	.	.	.	.	.	T	0.63920	0.2552	N	0.24115	0.695	0.52099	D	0.999946	P	0.44690	0.841	P	0.57204	0.815	T	0.64997	-0.6275	9	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1799	Q9Y4D8	K0614_HUMAN	K	2049;1799;2075	ENSP00000366783:R2049K;ENSP00000404379:R1799K;ENSP00000449784:R2075K	ENSP00000366783:R2049K	R	-	2	0	C12orf51	111150856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.310000	0.78947	2.941000	0.99782	0.655000	0.94253	AGA		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	58	0	0	0	0	6	58				
DCLK1	9201	broad.mit.edu	37	13	36700050	36700050	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:36700050G>A	ENST00000360631.3	-	2	436	c.225C>T	c.(223-225)gcC>gcT	p.A75A	DCLK1_ENST00000255448.4_Silent_p.A75A|DCLK1_ENST00000379892.4_Silent_p.A75A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	75	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGGGAGATGGCATACACAA	0.527																																						uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(223-225)GCC>GCT		doublecortin-like kinase 1							112.0	101.0	105.0					13																	36700050		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700050G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.225C>T	13.37:g.36700050G>A							p.A75A	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	458	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	75			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.225C>T																																																																																					0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		12	56	0	0	0	0	12	56				
F7	2155	broad.mit.edu	37	13	113773175	113773175	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:113773175G>A	ENST00000375581.3	+	9	1289	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	F7_ENST00000346342.3_Silent_p.L396L|F7_ENST00000541084.1_Silent_p.L349L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	418	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	CGTGGTACCTGACGGGCATCG	0.627																																						uc001vsv.2		NA																	0					0						c.(1252-1254)CTG>CTA		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						30.0	31.0	31.0					13																	113773175		2201	4298	6499	SO:0001819	synonymous_variant	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.chr13:113773175G>A		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.1254G>A	13.37:g.113773175G>A						F7_uc001vsw.2_Silent_p.L396L|F7_uc010tjt.1_Silent_p.L349L	p.L418L	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1305	+	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)	418			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.1254G>A	CCDS9528.1																																																																																				0.627	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		8	18	0	0	0	0	8	18				
PRMT5	10419	broad.mit.edu	37	14	23397351	23397351	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:23397351C>T	ENST00000324366.8	-	3	522	c.299G>A	c.(298-300)cGc>cAc	p.R100H	PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397440.4_Missense_Mutation_p.R83H|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Intron|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.R83H|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	100	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GGAGTTCCTGCGAATCTTCTC	0.498																																						uc001whm.1		NA																	0				ovary(1)	1						c.(298-300)CGC>CAC		protein arginine methyltransferase 5 isoform a							93.0	80.0	84.0					14																	23397351		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23397351C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.299G>A	14.37:g.23397351C>T	ENSP00000319169:p.Arg100His					PRMT5_uc001whl.1_Missense_Mutation_p.R83H|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tng.1_Intron|PRMT5_uc010tnh.1_Intron|PRMT5_uc001whn.1_Missense_Mutation_p.R83H	p.R100H	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	3	390	-	all_cancers(95;2.76e-05)		100					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.299G>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654970	0.88056	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000555530;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000554910;ENST00000421938	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.85197	2.74	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.973	D;P;P	0.78314	0.991;0.513;0.611	D	0.86607	0.1870	9	0.87932	D	0	-10.1014	17.6592	0.88187	0.0:1.0:0.0:0.0	.	83;100;83	A8MTP3;O14744;A8MZ91	.;ANM5_HUMAN;.	H	100;83;83;1;100;100;62;58;110	.	ENSP00000319169:R100H	R	-	2	0	PRMT5	22467191	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.888000	0.75622	2.464000	0.83262	0.557000	0.71058	CGC		0.498	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			5	40	0	0	0	0	5	40				
NIN	51199	broad.mit.edu	37	14	51192739	51192739	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:51192739C>T	ENST00000382041.3	-	30	6314	c.6124G>A	c.(6124-6126)Gaa>Aaa	p.E2042K	NIN_ENST00000530997.2_Missense_Mutation_p.E2042K|NIN_ENST00000382043.4_Missense_Mutation_p.E1329K|NIN_ENST00000324330.9_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000245441.5_Missense_Mutation_p.E2042K|NIN_ENST00000389868.3_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2042					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTTCAACTTCTATCATTCGT	0.413			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(6124-6126)GAA>AAA		ninein isoform 5							192.0	169.0	177.0					14																	51192739		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192739C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6124G>A	14.37:g.51192739C>T	ENSP00000371472:p.Glu2042Lys					NIN_uc001wyi.2_Missense_Mutation_p.E2042K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E1329K|NIN_uc010tqp.1_Missense_Mutation_p.E2048K	p.E2042K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			30	6315	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2042			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6124G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.577706|5.577706	0.96565|0.96565	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041|ENST00000530997;ENST00000389869	T;T;T|.	0.39997|.	1.05;1.85;2.35|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.226331|.	0.43416|.	D|.	0.000577|.	T|T	0.73313|0.73313	0.3571|0.3571	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.982;0.999|.	D;D;P;D|.	0.72982|.	0.979;0.979;0.791;0.964|.	T|T	0.69146|0.69146	-0.5222|-0.5222	10|5	0.32370|.	T|.	0.25|.	-16.6948|-16.6948	19.3249|19.3249	0.94258|0.94258	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2048;2042;1329;2042|.	Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;NIN_HUMAN;.;.|.	K|K	2042;2025;1329;2048;2042|1532	ENSP00000245441:E2042K;ENSP00000371474:E1329K;ENSP00000371472:E2042K|.	ENSP00000245441:E2042K|.	E|R	-|-	1|2	0|0	NIN|NIN	50262489|50262489	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.945000|0.945000	0.59286|0.59286	7.174000|7.174000	0.77620|0.77620	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		11	66	0	0	0	0	11	66				
NID2	22795	broad.mit.edu	37	14	52520909	52520909	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:52520909A>G	ENST00000216286.5	-	4	897	c.898T>C	c.(898-900)Ttc>Ctc	p.F300L	NID2_ENST00000541773.1_Missense_Mutation_p.F247L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	300					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)					GCATGGCTGAAGGAACGTCCC	0.517																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(898-900)TTC>CTC		nidogen 2 precursor							55.0	52.0	53.0					14																	52520909		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520909A>G	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.898T>C	14.37:g.52520909A>G	ENSP00000216286:p.Phe300Leu					NID2_uc010tqs.1_Missense_Mutation_p.F300L|NID2_uc010tqt.1_Missense_Mutation_p.F300L|NID2_uc001wzp.2_Missense_Mutation_p.F300L	p.F300L	NM_007361	NP_031387	Q14112	NID2_HUMAN			4	1132	-	Breast(41;0.0639)|all_epithelial(31;0.123)		300					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.898T>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	A	9.309	1.055183	0.19907	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.82711	-1.64;-1.53	5.34	1.2	0.21068	.	1.460500	0.03799	N	0.264139	T	0.68238	0.2979	L	0.27053	0.805	0.09310	N	1	B;B;B	0.33171	0.4;0.146;0.008	B;B;B	0.33960	0.173;0.038;0.006	T	0.55879	-0.8071	10	0.08599	T	0.76	.	0.5094	0.00592	0.3479:0.1872:0.2841:0.1808	.	247;302;300	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	L	300;247;302	ENSP00000216286:F300L;ENSP00000443730:F247L	ENSP00000216286:F300L	F	-	1	0	NID2	51590659	0.836000	0.29430	0.024000	0.17045	0.386000	0.30323	0.190000	0.17057	0.384000	0.24942	0.533000	0.62120	TTC		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			6	17	0	0	0	0	6	17				
DYNC1H1	1778	broad.mit.edu	37	14	102452228	102452228	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:102452228A>T	ENST00000360184.4	+	8	1830	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	556	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTACGATGAGAGGATCGACAG	0.512																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(1666-1668)AGG>TGG		cytoplasmic dynein 1 heavy chain 1							100.0	89.0	93.0					14																	102452228		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452228A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1666A>T	14.37:g.102452228A>T	ENSP00000348965:p.Arg556Trp						p.R556W	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			8	1830	+			556			Interaction with DYNC1I2 (By similarity).|Stem (By similarity).|Potential.		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.1666A>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536044	0.64972	.	.	ENSG00000197102	ENST00000360184	T	0.58940	0.3	5.67	-1.58	0.08479	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.91920	3.255	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.82827	-0.0265	10	0.87932	D	0	.	16.6026	0.84820	0.4078:0.5922:0.0:0.0	.	556	Q14204	DYHC1_HUMAN	W	556	ENSP00000348965:R556W	ENSP00000348965:R556W	R	+	1	2	DYNC1H1	101521981	1.000000	0.71417	0.852000	0.33557	0.653000	0.38743	1.312000	0.33574	-0.527000	0.06374	0.533000	0.62120	AGG		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		12	35	0	0	0	0	12	35				
SPESP1	246777	broad.mit.edu	37	15	69238891	69238891	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:69238891T>C	ENST00000310673.3	+	2	1172	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	340					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TATGTGTAGATCAAGGAGAGT	0.274																																						uc002arn.1		NA																	0					0						c.(1018-1020)TCA>CCA		sperm equatorial segment protein 1 precursor							35.0	37.0	36.0					15																	69238891		1969	4117	6086	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238891T>C	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.1018T>C	15.37:g.69238891T>C	ENSP00000312284:p.Ser340Pro					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.S340P	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	1146	+			340					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.1018T>C	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	T	4.420	0.077722	0.08485	.	.	ENSG00000258484	ENST00000310673	T	0.27256	1.68	5.09	1.49	0.22878	.	3.035820	0.01259	N	0.009129	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	0.999999	B	0.28552	0.215	B	0.28991	0.097	T	0.24799	-1.0150	10	0.51188	T	0.08	3.3271	6.8485	0.24003	0.0:0.2812:0.0:0.7188	.	340	Q6UW49	SPESP_HUMAN	P	340	ENSP00000312284:S340P	ENSP00000312284:S340P	S	+	1	0	SPESP1	67025945	0.001000	0.12720	0.002000	0.10522	0.052000	0.14988	0.287000	0.18920	0.061000	0.16311	-0.250000	0.11733	TCA		0.274	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		10	40	0	0	0	0	10	40				
ABHD17C	58489	broad.mit.edu	37	15	81046631	81046631	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:81046631G>A	ENST00000258884.4	+	3	1037	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.G69R|ABHD17C_ENST00000558464.1_Missense_Mutation_p.G270R	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	304							hydrolase activity (GO:0016787)										TGAAGGGGCTGGGCATAATGA	0.473																																						uc002bfu.2		NA																	0					0						c.(910-912)GGG>AGG		hypothetical protein LOC58489							70.0	67.0	68.0					15																	81046631		1911	4126	6037	SO:0001583	missense	58489						hydrolase activity	g.chr15:81046631G>A		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.910G>A	15.37:g.81046631G>A	ENSP00000258884:p.Gly304Arg					FAM108C1_uc002bft.2_Missense_Mutation_p.G263R	p.G304R	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			3	1029	+			304					Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	c.910G>A	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891618	0.91889	.	.	ENSG00000136379	ENST00000258884	T	0.58210	0.35	5.48	5.48	0.80851	.	0.063004	0.64402	D	0.000008	T	0.79317	0.4425	H	0.95079	3.62	0.80722	D	1	P;P	0.40909	0.732;0.686	P;P	0.53988	0.739;0.622	D	0.84323	0.0517	10	0.72032	D	0.01	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	304;270	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	R	304	ENSP00000258884:G304R	ENSP00000258884:G304R	G	+	1	0	FAM108C1	78833686	1.000000	0.71417	0.842000	0.33263	0.898000	0.52572	9.364000	0.97136	2.560000	0.86352	0.650000	0.86243	GGG		0.473	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		3	38	0	0	0	0	3	38				
SNRPA1	6627	broad.mit.edu	37	15	101821964	101821964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:101821964C>T	ENST00000254193.6	-	9	805	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	245					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTTCCATCTCTTCTTCACCA	0.418																																						uc002bww.2		NA																	0				kidney(1)	1						c.(733-735)GAG>AAG		small nuclear ribonucleoprotein polypeptide A'							103.0	99.0	100.0					15																	101821964		2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101821964C>T	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.733G>A	15.37:g.101821964C>T	ENSP00000254193:p.Glu245Lys					SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	p.E245K	NM_003090	NP_003081	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	810	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		245					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.733G>A	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716525	0.89205	.	.	ENSG00000131876	ENST00000254193	T	0.48522	0.81	4.85	4.85	0.62838	.	0.051952	0.85682	D	0.000000	T	0.36413	0.0966	L	0.36672	1.1	0.53688	D	0.999972	P	0.34934	0.476	B	0.32980	0.156	T	0.16748	-1.0392	10	0.08599	T	0.76	.	16.9706	0.86298	0.0:1.0:0.0:0.0	.	245	P09661	RU2A_HUMAN	K	245	ENSP00000254193:E245K	ENSP00000254193:E245K	E	-	1	0	SNRPA1	99639487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.158000	0.64917	2.224000	0.72417	0.650000	0.86243	GAG		0.418	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		12	37	0	0	0	0	12	37				
ZNF598	90850	broad.mit.edu	37	16	2052728	2052728	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:2052728G>A	ENST00000563630.1	-	4	548	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZNF598_ENST00000562103.1_Silent_p.F102F|ZNF598_ENST00000431526.1_Silent_p.F157F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	157							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCATATGTGAAGATCTACA	0.657																																						uc002cof.1		NA																	0				lung(1)|breast(1)	2						c.(469-471)TTC>TTT		zinc finger protein 598							22.0	24.0	24.0					16																	2052728		2095	4200	6295	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2052728G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.306C>T	16.37:g.2052728G>A						ZNF598_uc002coe.1_5'Flank	p.F157F	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			6	486	-			157					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.471C>T																																																																																					0.657	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	10	0	0	0	0	3	10				
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	G	A	rs112238716		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(2179-2181)ATC>ATT		xylosyltransferase I		G		1,4393	2.1+/-5.4	0,1,2196	171.0	171.0	171.0		2181	-6.9	0.3	16	dbSNP_132	171	0,8600		0,0,4300	no	coding-synonymous	XYLT1	NM_022166.3		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		727/960	17221565	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221565G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2181C>T	16.37:g.17221565G>A							p.I727I	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			10	2266	-			727			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2181C>T	CCDS10569.1																																																																																				0.493	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		28	145	0	0	0	0	28	145				
SMG1	23049	broad.mit.edu	37	16	18840717	18840717	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:18840717G>C	ENST00000446231.2	-	54	9906	c.9494C>G	c.(9493-9495)tCt>tGt	p.S3165C	SMG1_ENST00000389467.3_Missense_Mutation_p.S3165C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3165					DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTCGTAAGAACTTGCTAA	0.463																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9493-9495)TCT>TGT		PI-3-kinase-related kinase SMG-1							85.0	81.0	83.0					16																	18840717		1937	4147	6084	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18840717G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9494C>G	16.37:g.18840717G>C	ENSP00000402515:p.Ser3165Cys					SMG1_uc010bwb.2_Missense_Mutation_p.S3025C|SMG1_uc010bwa.2_Missense_Mutation_p.S1896C	p.S3165C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			54	9857	-			3165					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.9494C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540917	0.65085	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01159	5.25;5.25	5.89	5.89	0.94794	.	0.305092	0.29253	N	0.012699	T	0.03739	0.0106	N	0.19112	0.55	0.53005	D	0.999966	D	0.76494	0.999	D	0.77557	0.99	T	0.62647	-0.6810	10	0.66056	D	0.02	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	3165	Q96Q15	SMG1_HUMAN	C	3165	ENSP00000402515:S3165C;ENSP00000374118:S3165C	ENSP00000374118:S3165C	S	-	2	0	SMG1	18748218	1.000000	0.71417	0.260000	0.24451	0.970000	0.65996	9.827000	0.99397	2.788000	0.95919	0.585000	0.79938	TCT		0.463	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	41	0	0	0	0	3	41				
NUPR1	26471	broad.mit.edu	37	16	28549476	28549476	+	Splice_Site	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:28549476C>T	ENST00000324873.6	-	2	379	c.113G>A	c.(112-114)gGa>gAa	p.G38E	NUPR1_ENST00000395641.2_Missense_Mutation_p.G56E	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	38					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						GCCTCCACCTCCTGTAACCAA	0.612																																						uc002dqe.1		NA																	0					0						c.(112-114)GGA>GAA		p8 protein isoform b							86.0	90.0	88.0					16																	28549476		2197	4300	6497	SO:0001630	splice_region_variant	26471				cell growth|induction of apoptosis	nucleus		g.chr16:28549476C>T	AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.113-1G>A	16.37:g.28549476C>T						uc010vct.1_Intron|NUPR1_uc002dqd.1_Missense_Mutation_p.G56E	p.G38E	NM_012385	NP_036517	O60356	NUPR1_HUMAN			2	380	-			38					B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	ENST00000324873.6	37	c.113G>A	CCDS10634.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498961	0.64298	.	.	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.5	3.53	0.40419	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.20196	N	0.99992	P	0.52577	0.954	P	0.54706	0.759	T	0.18272	-1.0342	7	0.21540	T	0.41	-0.6586	8.2434	0.31673	0.163:0.6443:0.1927:0.0	.	38	O60356	NUPR1_HUMAN	E	38;56	.	ENSP00000315559:G38E	G	-	2	0	NUPR1	28456977	0.461000	0.25783	0.730000	0.30809	0.499000	0.33736	0.456000	0.21859	0.776000	0.33473	0.655000	0.94253	GGA		0.612	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385	Missense_Mutation	18	103	0	0	0	0	18	103				
SALL1	6299	broad.mit.edu	37	16	51175973	51175973	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:51175973C>T	ENST00000251020.4	-	2	193	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	54					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTGATAATTCAAAGAACTCG	0.458																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(160-162)GAA>AAA		sal-like 1 isoform a							92.0	98.0	96.0					16																	51175973		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175973C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.160G>A	16.37:g.51175973C>T	ENSP00000251020:p.Glu54Lys					SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.E54K	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	191	-		all_cancers(37;0.0322)	54					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.160G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446063	0.25987	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.52526	0.66	5.37	5.37	0.77165	.	0.044305	0.85682	D	0.000000	T	0.28599	0.0708	N	0.12746	0.255	0.80722	D	1	B	0.25719	0.132	B	0.17098	0.017	T	0.20338	-1.0278	10	0.02654	T	1	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	54	Q9NSC2	SALL1_HUMAN	K	54	ENSP00000251020:E54K	ENSP00000251020:E54K	E	-	1	0	SALL1	49733474	1.000000	0.71417	0.989000	0.46669	0.962000	0.63368	4.939000	0.63526	2.499000	0.84300	0.555000	0.69702	GAA		0.458	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		20	119	0	0	0	0	20	119				
HAS3	3038	broad.mit.edu	37	16	69148735	69148735	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:69148735C>G	ENST00000306560.1	+	4	1384	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	HAS3_ENST00000569188.1_Missense_Mutation_p.L410V|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTGGAACATTCTCCTCTTCCT	0.547																																						uc010cfh.2		NA																	0					0						c.(1228-1230)CTC>GTC		hyaluronan synthase 3 isoform a							116.0	109.0	111.0					16																	69148735		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148735C>G	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1228C>G	16.37:g.69148735C>G	ENSP00000304440:p.Leu410Val					HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.L410V	p.L410V	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1452	+		Ovarian(137;0.101)	410			Helical; Name=4; (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.1228C>G	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959450	0.53400	.	.	ENSG00000103044	ENST00000306560	T	0.60548	0.18	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	L	0.48642	1.525	0.47374	D	0.999408	B	0.30870	0.298	B	0.25987	0.065	T	0.45071	-0.9286	10	0.16896	T	0.51	-24.5417	20.2544	0.98414	0.0:1.0:0.0:0.0	.	410	O00219	HAS3_HUMAN	V	410	ENSP00000304440:L410V	ENSP00000304440:L410V	L	+	1	0	HAS3	67706236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.876000	0.63079	2.885000	0.99019	0.655000	0.94253	CTC		0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	94	0	0	0	0	4	94				
MARVELD3	91862	broad.mit.edu	37	16	71674673	71674673	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:71674673C>T	ENST00000299952.4	+	3	1019	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	329	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCACGTGGCTCTGCAGATCAA	0.587																																						uc002fau.2		NA																	0				skin(1)	1						c.(976-978)CTG>TTG		MARVEL domain containing 3 isoform 1							77.0	75.0	75.0					16																	71674673		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71674673C>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.976C>T	16.37:g.71674673C>T						PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	p.L326L	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN			3	1039	+		Ovarian(137;0.125)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000299952.4	37	c.976C>T	CCDS32478.1																																																																																				0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		4	48	0	0	0	0	4	48				
CHST6	4166	broad.mit.edu	37	16	75513583	75513583	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:75513583C>T	ENST00000332272.4	-	3	323	c.144G>A	c.(142-144)tcG>tcA	p.S48S	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.S48S	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	48					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)|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)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCGAGCGCCACGAGGACAGCA	0.672																																						uc002fef.2		NA																	0					0						c.(142-144)TCG>TCA		carbohydrate (N-acetylglucosamine 6-O)							32.0	27.0	29.0					16																	75513583		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513583C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.144G>A	16.37:g.75513583C>T						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.S48S	p.S48S	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	324	-			48			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.144G>A	CCDS10918.1																																																																																				0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		3	21	0	0	0	0	3	21				
OR3A1	4994	broad.mit.edu	37	17	3195220	3195220	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3195220G>C	ENST00000323404.1	-	1	656	c.657C>G	c.(655-657)atC>atG	p.I219M	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGATATAGGAGATGACAATGA	0.537																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	0				kidney(2)|central_nervous_system(1)	3						c.(655-657)ATC>ATG		olfactory receptor, family 3, subfamily A,							63.0	60.0	61.0					17																	3195220		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195220G>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.657C>G	17.37:g.3195220G>C	ENSP00000313803:p.Ile219Met						p.I219M	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	657	-			219			Helical; Name=5; (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.657C>G	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	G	5.248	0.231168	0.09969	.	.	ENSG00000180090	ENST00000323404	T	0.41065	1.01	5.01	-0.526	0.11913	GPCR, rhodopsin-like superfamily (1);	0.250733	0.28420	N	0.015404	T	0.27063	0.0663	L	0.41415	1.275	0.09310	N	1	B	0.20368	0.044	B	0.25987	0.065	T	0.16276	-1.0408	10	0.54805	T	0.06	-19.7242	1.7848	0.03039	0.2968:0.1324:0.4353:0.1355	.	219	P47881	OR3A1_HUMAN	M	219	ENSP00000313803:I219M	ENSP00000313803:I219M	I	-	3	3	OR3A1	3141970	0.000000	0.05858	0.384000	0.26145	0.201000	0.24016	-1.113000	0.03296	0.078000	0.16900	0.650000	0.86243	ATC		0.537	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			12	26	0	0	0	0	12	26				
TRPV3	162514	broad.mit.edu	37	17	3417907	3417907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3417907G>A	ENST00000576742.1	-	17	2579	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	SPATA22_ENST00000541913.1_5'Flank|TRPV3_ENST00000301365.4_Missense_Mutation_p.P753L|TRPV3_ENST00000572519.1_Missense_Mutation_p.P753L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	753					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TACAGGCCCCGGGTCTTCGTT	0.498																																						uc002fvt.1		NA																	0				ovary(4)	4						c.(2257-2259)CCG>CTG		transient receptor potential cation channel,	Menthol(DB00825)						198.0	140.0	160.0					17																	3417907		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3417907G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2258C>T	17.37:g.3417907G>A	ENSP00000461518:p.Pro753Leu					SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P737L|TRPV3_uc010vri.1_Missense_Mutation_p.P708L|TRPV3_uc010vrj.1_Missense_Mutation_p.P737L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P737L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P753L|TRPV3_uc002fvu.2_Missense_Mutation_p.P753L	p.P753L	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			17	2580	-			753			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2258C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	g	32	5.175569	0.94807	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.92699	-3.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.67700	2.07	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.979;0.998;0.998;0.999;0.998;0.999	D	0.95724	0.8769	10	0.87932	D	0	-15.3959	18.7989	0.92008	0.0:0.0:1.0:0.0	.	737;737;753;737;753;753;753	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	L	753;753;737	ENSP00000301365:P753L	ENSP00000301365:P753L	P	-	2	0	TRPV3	3364657	1.000000	0.71417	0.683000	0.30040	0.267000	0.26476	6.780000	0.75063	2.769000	0.95229	0.563000	0.77884	CCG		0.498	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		7	25	0	0	0	0	7	25				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	39	0	0	0	0	5	39				
RAB34	83871	broad.mit.edu	37	17	27042864	27042864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:27042864C>A	ENST00000395245.3	-	4	894	c.268G>T	c.(268-270)Gag>Tag	p.E90*	RAB34_ENST00000395242.2_Nonsense_Mutation_p.E91*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.E68*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E148*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E90*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.E90*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E147*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	90					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.E90*(1)|p.E148*(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CGTTCCATCTCGAAGTCCACT	0.547																																					Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(268-270)GAG>TAG		Ras-related protein RAB34 isoform 1							188.0	181.0	184.0					17																	27042864		2203	4300	6503	SO:0001587	stop_gained	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042864C>A	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.268G>T	17.37:g.27042864C>A	ENSP00000378666:p.Glu90*					RAB34_uc002hcg.2_Nonsense_Mutation_p.E90*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E91*|RAB34_uc010was.1_Nonsense_Mutation_p.E147*|RAB34_uc010wat.1_Nonsense_Mutation_p.E147*|RAB34_uc002hch.2_Nonsense_Mutation_p.E90*|RAB34_uc010wau.1_Nonsense_Mutation_p.E68*|RAB34_uc010wav.1_Nonsense_Mutation_p.E148*	p.E90*	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			4	892	-	Lung NSC(42;0.00431)		90					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Nonsense_Mutation	SNP	ENST00000395245.3	37	c.268G>T	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633964	0.96682	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-28.6489	18.3645	0.90386	0.0:1.0:0.0:0.0	.	.	.	.	X	148;147;90;90;68;113;91;90;113;91;90;90	.	ENSP00000301043:E90X	E	-	1	0	RAB34	24066991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.476000	0.81055	2.685000	0.91497	0.462000	0.41574	GAG		0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		29	105	1	0	1.81e-10	1.98e-10	29	105				
GPR179	440435	broad.mit.edu	37	17	36483161	36483161	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:36483161G>A	ENST00000342292.4	-	11	6311	c.6291C>T	c.(6289-6291)agC>agT	p.S2097S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2097					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AACTGCCTCTGCTTCTGTCAG	0.582																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(6289-6291)AGC>AGT		GPR158-like 1 precursor							91.0	90.0	90.0					17																	36483161		2053	4206	6259	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483161G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6291C>T	17.37:g.36483161G>A							p.S2097S	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	6312	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2097			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.6291C>T	CCDS42308.1																																																																																				0.582	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			13	73	0	0	0	0	13	73				
KCNH6	81033	broad.mit.edu	37	17	61621726	61621726	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:61621726C>T	ENST00000583023.1	+	12	2469	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	KCNH6_ENST00000456941.2_Silent_p.L731L|KCNH6_ENST00000581784.1_Silent_p.L731L|KCNH6_ENST00000314672.5_Silent_p.L784L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	820					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)	TTGCTGGCCTCTGAAGCTGGG	0.617																																						uc002jay.2		NA																	0				skin(1)	1						c.(2458-2460)CTG>TTG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						34.0	37.0	36.0					17																	61621726		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61621726C>T	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.2458C>T	17.37:g.61621726C>T						KCNH6_uc010wpl.1_Silent_p.L661L|KCNH6_uc010wpm.1_Silent_p.L784L|KCNH6_uc002jaz.1_Silent_p.L731L	p.L820L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			12	2538	+			820			Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.2458C>T	CCDS11638.1																																																																																				0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		9	19	0	0	0	0	9	19				
DSEL	92126	broad.mit.edu	37	18	65179743	65179743	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr18:65179743T>C	ENST00000310045.7	-	2	3606	c.2133A>G	c.(2131-2133)ggA>ggG	p.G711G	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	701					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAATCTGAAGTCCAGGATTGG	0.363																																						uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2131-2133)GGA>GGG		dermatan sulfate epimerase-like							63.0	65.0	64.0					18																	65179743		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179743T>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2133A>G	18.37:g.65179743T>C							p.G711G	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3357	-		Esophageal squamous(42;0.129)	701					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.2133A>G	CCDS11995.1																																																																																				0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		11	45	0	0	0	0	11	45				
ZNF491	126069	broad.mit.edu	37	19	11917375	11917375	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:11917375C>G	ENST00000323169.5	+	3	938	c.607C>G	c.(607-609)Cgc>Ggc	p.R203G	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					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(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCCTTTCGCAGACATGA	0.438																																						uc002mso.1		NA																	0				ovary(2)	2						c.(607-609)CGC>GGC		zinc finger protein 491							55.0	55.0	55.0					19																	11917375		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917375C>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.607C>G	19.37:g.11917375C>G	ENSP00000313443:p.Arg203Gly						p.R203G	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	892	+			203			C2H2-type 5.		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.607C>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	8.615	0.890067	0.17540	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00760	5.73	0.892	-0.316	0.12743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	L	0.59436	1.845	0.09310	N	1	P	0.49696	0.927	B	0.35727	0.209	T	0.50311	-0.8843	9	0.46703	T	0.11	.	4.2249	0.10575	0.255:0.4926:0.2524:0.0	.	203	Q8N8L2	ZN491_HUMAN	G	203	ENSP00000313443:R203G	ENSP00000313443:R203G	R	+	1	0	ZNF491	11778375	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.040000	0.12104	-0.063000	0.13065	0.407000	0.27541	CGC		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		23	18	0	0	0	0	23	18				
OR10H2	26538	broad.mit.edu	37	19	15839214	15839214	+	Missense_Mutation	SNP	G	G	A	rs113885700	byFrequency	TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:15839214G>A	ENST00000305899.3	+	1	381	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGGGCTACGACCGCTACGT	0.652													G|||	3	0.000599042	0.0	0.0014	5008	,	,		21169	0.0		0.001	False		,,,				2504	0.001					uc002nbm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(361-363)GAC>AAC		olfactory receptor, family 10, subfamily H,		G	ASN/ASP	0,4406		0,0,2203	57.0	50.0	52.0		361	3.3	1.0	19	dbSNP_132	52	3,8591		0,3,4294	no	missense	OR10H2	NM_013939.2	23	0,3,6497	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	121/316	15839214	3,12997	2203	4297	6500	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839214G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.361G>A	19.37:g.15839214G>A	ENSP00000306095:p.Asp121Asn						p.D121N	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	381	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		121			Cytoplasmic (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.361G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	24.6	4.548561	0.86127	0.0	3.49E-4	ENSG00000171942	ENST00000305899	T	0.18016	2.24	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.52693	0.1750	H	0.95884	3.735	0.43467	D	0.995676	D	0.89917	1.0	D	0.97110	1.0	T	0.67389	-0.5683	10	0.72032	D	0.01	.	12.0462	0.53480	0.0:0.0:1.0:0.0	.	121	O60403	O10H2_HUMAN	N	121	ENSP00000306095:D121N	ENSP00000306095:D121N	D	+	1	0	OR10H2	15700214	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.979000	0.76154	1.371000	0.46172	0.430000	0.28490	GAC		0.652	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			6	55	0	0	0	0	6	55				
GPATCH1	55094	broad.mit.edu	37	19	33587186	33587186	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:33587186C>T	ENST00000170564.2	+	7	1000	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	229					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GATTTCACACCTAAAGATAAT	0.438																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	0				skin(1)	1						c.(685-687)CCT>CTT		G patch domain containing 1							136.0	132.0	133.0					19																	33587186		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33587186C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.686C>T	19.37:g.33587186C>T	ENSP00000170564:p.Pro229Leu						p.P229L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			7	1000	+	Esophageal squamous(110;0.137)		229					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.686C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033736	0.75504	.	.	ENSG00000076650	ENST00000170564	T	0.15372	2.43	5.51	5.51	0.81932	.	0.107321	0.64402	D	0.000003	T	0.35364	0.0929	M	0.85630	2.765	0.80722	D	1	D	0.55172	0.97	P	0.51701	0.677	T	0.24693	-1.0153	10	0.66056	D	0.02	-12.491	11.8708	0.52519	0.0:0.9206:0.0:0.0794	.	229	Q9BRR8	GPTC1_HUMAN	L	229	ENSP00000170564:P229L	ENSP00000170564:P229L	P	+	2	0	GPATCH1	38279026	0.966000	0.33281	0.988000	0.46212	0.596000	0.36781	2.284000	0.43478	2.602000	0.87976	0.650000	0.86243	CCT		0.438	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		14	87	0	0	0	0	14	87				
FCGBP	8857	broad.mit.edu	37	19	40420125	40420125	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:40420125C>G	ENST00000221347.6	-	6	2876	c.2869G>C	c.(2869-2871)Gat>Cat	p.D957H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	957	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGCCCATCTGCTGCTTGG	0.582																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2869-2871)GAT>CAT		Fc fragment of IgG binding protein precursor							50.0	48.0	49.0					19																	40420125		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40420125C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2869G>C	19.37:g.40420125C>G	ENSP00000221347:p.Asp957His						p.D957H	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	2877	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		957			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2869G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371960	0.24857	.	.	ENSG00000090920	ENST00000221347	T	0.60797	0.16	4.84	1.59	0.23543	von Willebrand factor, type D domain (3);	0.614068	0.14674	N	0.305175	T	0.58921	0.2156	N	0.21282	0.65	0.09310	N	1	D	0.69078	0.997	D	0.77557	0.99	T	0.49495	-0.8934	10	0.45353	T	0.12	.	9.1417	0.36908	0.0:0.7563:0.0:0.2437	.	957	Q9Y6R7	FCGBP_HUMAN	H	957	ENSP00000221347:D957H	ENSP00000221347:D957H	D	-	1	0	FCGBP	45111965	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	1.493000	0.35605	0.269000	0.21961	0.561000	0.74099	GAT		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	45	0	0	0	0	8	45				
CYP2F1	1572	broad.mit.edu	37	19	41622401	41622401	+	Silent	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:41622401A>G	ENST00000331105.2	+	3	285	c.213A>G	c.(211-213)ggA>ggG	p.G71G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	71					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGCACCTGGGACCCAGGCGGG	0.612																																						uc002opu.1		NA																	0					0						c.(211-213)GGA>GGG		cytochrome P450, family 2, subfamily F,							120.0	116.0	117.0					19																	41622401		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622401A>G	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.213A>G	19.37:g.41622401A>G						CYP2F1_uc010xvw.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.G71G|CYP2F1_uc002opv.1_RNA	p.G71G	NM_000774	NP_000765	P24903	CP2F1_HUMAN			3	269	+			71					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.213A>G	CCDS12572.1																																																																																				0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			5	109	0	0	0	0	5	109				
SYMPK	8189	broad.mit.edu	37	19	46319207	46319207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46319207C>T	ENST00000245934.7	-	26	3833	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	RSPH6A_ENST00000221538.3_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1197					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCTCGCACTCAGGCCCCTCC	0.682																																						uc002pdn.2		NA																	0				ovary(1)	1						c.(3589-3591)GAG>AAG		symplekin							14.0	15.0	14.0					19																	46319207		2181	4258	6439	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46319207C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3589G>A	19.37:g.46319207C>T	ENSP00000245934:p.Glu1197Lys					RSPH6A_uc002pdm.2_5'Flank	p.E1197K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	26	3834	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1197					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.3589G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688350	0.88639	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.067532	0.56097	D	0.000031	T	0.36496	0.0969	N	0.24115	0.695	0.43014	D	0.99455	B	0.32918	0.39	B	0.26864	0.074	T	0.42816	-0.9429	9	0.72032	D	0.01	.	12.4155	0.55492	0.0:1.0:0.0:0.0	.	1197	Q92797	SYMPK_HUMAN	K	1197	.	ENSP00000245934:E1197K	E	-	1	0	SYMPK	51011047	0.997000	0.39634	0.988000	0.46212	0.959000	0.62525	4.950000	0.63603	2.298000	0.77334	0.472000	0.43445	GAG		0.682	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	16	0	0	0	0	3	16				
CCDC61	729440	broad.mit.edu	37	19	46509871	46509871	+	Missense_Mutation	SNP	C	C	T	rs376150047		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46509871C>T	ENST00000595358.1	+	4	335	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CCDC61_ENST00000594087.1_Missense_Mutation_p.R96W|CCDC61_ENST00000536603.1_Missense_Mutation_p.R96W|CCDC61_ENST00000263284.2_Missense_Mutation_p.R153W	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	96						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAGTCCCTGCGGAACCGCAA	0.632																																						uc002pdw.2		NA																	0				ovary(1)	1						c.(457-459)CGG>TGG		coiled-coil domain containing 61		A	TRP/ARG	1,3911		0,1,1955	23.0	27.0	26.0		457	1.8	1.0	19		26	0,8280		0,0,4140	no	missense	CCDC61	NM_001080402.1	101	0,1,6095	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	153/532	46509871	1,12191	1956	4140	6096	SO:0001583	missense	729440							g.chr19:46509871C>T		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.286C>T	19.37:g.46509871C>T	ENSP00000471454:p.Arg96Trp						p.R153W	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	5	457	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	c.457C>T	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994263	0.74703	2.56E-4	0.0	ENSG00000104983	ENST00000263284;ENST00000536603	T;T	0.50548	0.74;0.74	3.96	1.78	0.24846	.	0.062749	0.64402	D	0.000003	T	0.67239	0.2872	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.69789	-0.5050	10	0.87932	D	0	-20.1789	10.7205	0.46038	0.3463:0.6537:0.0:0.0	.	96	Q9Y6R9	CCD61_HUMAN	W	153;96	ENSP00000263284:R153W;ENSP00000444279:R96W	ENSP00000263284:R153W	R	+	1	2	CCDC61	51201711	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	1.313000	0.33585	0.475000	0.27415	-0.224000	0.12420	CGG		0.632	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		9	28	0	0	0	0	9	28				
ZNF766	90321	broad.mit.edu	37	19	52785416	52785416	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:52785416A>T	ENST00000439461.1	+	2	114	c.71A>T	c.(70-72)aAa>aTa	p.K24I	ZNF766_ENST00000593612.1_Missense_Mutation_p.K39I|MIR643_ENST00000385267.1_RNA|ZNF766_ENST00000359102.4_Missense_Mutation_p.K39I|ZNF766_ENST00000600821.1_Missense_Mutation_p.K19I|ZNF766_ENST00000599581.1_Missense_Mutation_p.K24I|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAGGAGTGGAAATGCCTGGAC	0.463																																						uc002pyr.1		NA																	0					0						c.(70-72)AAA>ATA		zinc finger protein 766							193.0	196.0	195.0					19																	52785416		2203	4300	6503	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52785416A>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.71A>T	19.37:g.52785416A>T	ENSP00000409652:p.Lys24Ile					ZNF766_uc002pys.1_Missense_Mutation_p.K24I|ZNF766_uc002pyt.1_Missense_Mutation_p.K39I	p.K24I	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	2	114	+			24			KRAB.		B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.71A>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261618	0.23051	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.01918	4.56;4.56	2.91	1.82	0.25136	Krueppel-associated box (4);	.	.	.	.	T	0.05547	0.0146	M	0.64260	1.97	0.09310	N	1	D;D;D	0.61080	0.963;0.989;0.971	P;P;P	0.54856	0.693;0.762;0.725	T	0.34576	-0.9823	9	0.56958	D	0.05	.	4.483	0.11776	0.6798:0.1973:0.1229:0.0	.	39;39;24	G3XAE0;B3KUR0;Q5HY98	.;.;ZN766_HUMAN	I	24;39	ENSP00000409652:K24I;ENSP00000352005:K39I	ENSP00000352005:K39I	K	+	2	0	ZNF766	57477228	0.002000	0.14202	0.698000	0.30274	0.073000	0.16967	-0.891000	0.04135	1.183000	0.42943	0.533000	0.62120	AAA		0.463	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		32	152	0	0	0	0	32	152				
CNOT3	4849	broad.mit.edu	37	19	54653382	54653382	+	Silent	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:54653382G>C	ENST00000406403.1	+	12	3097	c.1494G>C	c.(1492-1494)gtG>gtC	p.V498V	CNOT3_ENST00000358389.3_Silent_p.V317V|CNOT3_ENST00000221232.5_Silent_p.V498V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	498	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTCCTGGTGCCACTGCCTG	0.677																																						uc002qdj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1492-1494)GTG>GTC		CCR4-NOT transcription complex, subunit 3							44.0	40.0	41.0					19																	54653382		2203	4300	6503	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54653382G>C	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1494G>C	19.37:g.54653382G>C						CNOT3_uc010yel.1_Silent_p.V498V|CNOT3_uc002qdi.2_Silent_p.V411V|CNOT3_uc002qdk.1_Silent_p.V498V|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'UTR	p.V498V	NM_014516	NP_055331	O75175	CNOT3_HUMAN			13	1805	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		498			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1494G>C	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358614	0.24598	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.96	3.91	0.45181	.	.	.	.	.	T	0.59032	0.2164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55909	-0.8066	4	.	.	.	-19.4856	8.9626	0.35856	0.1748:0.0:0.8252:0.0	.	.	.	.	P	30	.	.	A	+	1	0	CNOT3	59345194	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.345000	0.33953	1.212000	0.43366	0.655000	0.94253	GCC		0.677	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		5	23	0	0	0	0	5	23				
ZNF211	10520	broad.mit.edu	37	19	58146066	58146066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:58146066C>G	ENST00000347302.3	+	2	339	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	ZNF211_ENST00000240731.4_Missense_Mutation_p.Q67E|ZNF211_ENST00000544273.1_Missense_Mutation_p.Q66E|ZNF211_ENST00000420680.1_Missense_Mutation_p.Q58E|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.Q67E	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.026)		TGATGAGGCTCAGAAACACCT	0.502																																						uc002qpq.2		NA																	0				ovary(2)	2						c.(160-162)CAG>GAG		zinc finger protein 211 isoform 2							318.0	263.0	282.0					19																	58146066		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58146066C>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.160C>G	19.37:g.58146066C>G	ENSP00000339562:p.Gln54Glu					ZNF211_uc010yhb.1_Missense_Mutation_p.Q58E|ZNF211_uc002qpp.2_Missense_Mutation_p.Q67E|ZNF211_uc002qpr.2_Missense_Mutation_p.Q66E|ZNF211_uc002qps.2_Missense_Mutation_p.Q67E|ZNF211_uc002qpt.2_Missense_Mutation_p.Q66E|ZNF211_uc010yhc.1_Missense_Mutation_p.Q66E|ZNF211_uc010yhd.1_5'UTR|ZNF211_uc010yhe.1_5'UTR	p.Q54E	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	340	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	54			KRAB.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.160C>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.041966|3.041966	0.55003|0.55003	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T|.	0.09073|.	3.02;3.02;3.02;3.02;3.02|.	2.82|2.82	2.82|2.82	0.32997|0.32997	Krueppel-associated box (4);|.	.|.	.|.	.|.	.|.	T|.	0.76307|.	0.3969|.	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.58268|.	0.972;0.954;0.982;0.963;0.978|.	D;D;D;D;D|.	0.74348|.	0.971;0.932;0.968;0.959;0.983|.	T|.	0.78645|.	-0.2123|.	9|.	0.52906|.	T|.	0.07|.	.|.	9.1894|9.1894	0.37189|0.37189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	58;66;67;54;67|.	Q13398-4;Q13398-3;F8WDV2;Q13398;B9ZVW1|.	.;.;.;ZN211_HUMAN;.|.	E|X	58;54;67;66;67|57	ENSP00000399193:Q58E;ENSP00000339562:Q54E;ENSP00000299871:Q67E;ENSP00000441386:Q66E;ENSP00000240731:Q67E|.	ENSP00000240731:Q67E|.	Q|S	+|+	1|2	0|0	ZNF211|ZNF211	62837878|62837878	0.989000|0.989000	0.36119|0.36119	0.994000|0.994000	0.49952|0.49952	0.818000|0.818000	0.46254|0.46254	3.630000|3.630000	0.54273|0.54273	1.580000|1.580000	0.49851|0.49851	0.313000|0.313000	0.20887|0.20887	CAG|TCA		0.502	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			12	84	0	0	0	0	12	84				
CLIP4	79745	broad.mit.edu	37	2	29375604	29375604	+	Missense_Mutation	SNP	A	A	G	rs147860020		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:29375604A>G	ENST00000320081.5	+	9	1330	c.1075A>G	c.(1075-1077)Ata>Gta	p.I359V	CLIP4_ENST00000401605.1_Missense_Mutation_p.I359V|CLIP4_ENST00000401617.2_Missense_Mutation_p.I252V|CLIP4_ENST00000404424.1_Missense_Mutation_p.I359V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	359										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAGGAAGAATATAACACACAC	0.363																																						uc002rmv.2		NA																	0				ovary(1)	1						c.(1075-1077)ATA>GTA		CAP-GLY domain containing linker protein family,		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	111.0	101.0	104.0		1075	-2.6	0.0	2	dbSNP_134	104	0,8600		0,0,4300	no	missense	CLIP4	NM_024692.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	359/706	29375604	1,13005	2203	4300	6503	SO:0001583	missense	79745							g.chr2:29375604A>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1075A>G	2.37:g.29375604A>G	ENSP00000327009:p.Ile359Val					CLIP4_uc002rmu.2_Missense_Mutation_p.I359V|CLIP4_uc010ezm.1_Missense_Mutation_p.I359V|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.I341V	p.I359V	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			9	1314	+	Acute lymphoblastic leukemia(172;0.155)		359					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1075A>G	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	A	0.298	-0.975590	0.02215	2.27E-4	0.0	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.07	-2.6	0.06190	Cytoskeleton-associated protein, Gly-rich domain (1);	1.156250	0.05956	N	0.639669	T	0.56717	0.2004	L	0.45581	1.43	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35351	-0.9792	10	0.07030	T	0.85	.	0.8918	0.01255	0.3734:0.1924:0.2692:0.165	.	359;359	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	V	359;252;359;359;359;360;341	ENSP00000384242:I359V;ENSP00000385148:I252V;ENSP00000385594:I359V;ENSP00000327009:I359V	ENSP00000327009:I359V	I	+	1	0	CLIP4	29229108	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.330000	0.07925	-0.073000	0.12842	-0.263000	0.10527	ATA		0.363	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		4	42	0	0	0	0	4	42				
DYSF	8291	broad.mit.edu	37	2	71828648	71828648	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:71828648C>T	ENST00000258104.3	+	35	4140	c.3863C>T	c.(3862-3864)cCt>cTt	p.P1288L	DYSF_ENST00000409744.1_Missense_Mutation_p.P1275L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1289L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1306L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1289L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1320L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1288L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1306L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1319L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1305L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1305L|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1288					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCATATTCCTGGTTTTGAG	0.512																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3862-3864)CCT>CTT		dysferlin isoform 8							308.0	243.0	265.0					2																	71828648		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71828648C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3863C>T	2.37:g.71828648C>T	ENSP00000258104:p.Pro1288Leu					DYSF_uc010feg.2_Missense_Mutation_p.P1319L|DYSF_uc010feh.2_Missense_Mutation_p.P1274L|DYSF_uc002sig.3_Missense_Mutation_p.P1274L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1288L|DYSF_uc010fef.2_Missense_Mutation_p.P1305L|DYSF_uc010fei.2_Missense_Mutation_p.P1305L|DYSF_uc010fek.2_Missense_Mutation_p.P1306L|DYSF_uc010fej.2_Missense_Mutation_p.P1275L|DYSF_uc010fel.2_Missense_Mutation_p.P1275L|DYSF_uc010feo.2_Missense_Mutation_p.P1320L|DYSF_uc010fem.2_Missense_Mutation_p.P1289L|DYSF_uc010fen.2_Missense_Mutation_p.P1306L|DYSF_uc002sif.2_Missense_Mutation_p.P1289L|DYSF_uc010yqy.1_Missense_Mutation_p.P169L|DYSF_uc010yqz.1_Missense_Mutation_p.P28L	p.P1288L	NM_003494	NP_003485	O75923	DYSF_HUMAN			35	4239	+			1288			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3863C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447234	0.63178	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84442	-1.81;-1.81;-1.85;-1.85;-1.81;-1.8;-1.8;-1.83;-1.84;-1.84;-1.79	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.85561	0.5725	L	0.42245	1.32	0.80722	D	1	B;P;P;P;P;B;B;B;B;P;B;P;P;P;P	0.49253	0.306;0.921;0.921;0.71;0.71;0.002;0.001;0.002;0.0;0.921;0.005;0.71;0.71;0.813;0.586	B;P;P;P;P;B;B;B;B;P;B;P;P;P;B	0.52159	0.11;0.543;0.543;0.543;0.543;0.008;0.005;0.008;0.007;0.543;0.005;0.543;0.543;0.691;0.342	D	0.86740	0.1954	10	0.56958	D	0.05	-2.6911	14.5951	0.68400	0.0:1.0:0.0:0.0	.	31;1320;1306;1289;1275;1306;1275;1305;1274;1319;1305;1288;1274;1289;1288	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1319;1305;1305;1288;1288;1320;1289;1275;1289;1306;1306	ENSP00000407046:P1319L;ENSP00000387137:P1305L;ENSP00000386547:P1305L;ENSP00000398305:P1288L;ENSP00000258104:P1288L;ENSP00000386683:P1320L;ENSP00000377678:P1289L;ENSP00000386285:P1275L;ENSP00000386512:P1289L;ENSP00000386881:P1306L;ENSP00000386617:P1306L	ENSP00000258104:P1288L	P	+	2	0	DYSF	71682156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.240000	0.65378	2.367000	0.80283	0.655000	0.94253	CCT		0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	47	0	0	0	0	7	47				
NCAPH	23397	broad.mit.edu	37	2	97007517	97007517	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:97007517G>A	ENST00000240423.4	+	2	200	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	NCAPH_ENST00000455200.1_Missense_Mutation_p.E42K|NCAPH_ENST00000427946.1_Intron	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	53					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCCAGTCCTCGAAGACTTTCC	0.597																																						uc002svz.1		NA																	0				urinary_tract(1)|skin(1)	2						c.(157-159)GAA>AAA		non-SMC condensin I complex, subunit H							75.0	82.0	80.0					2																	97007517		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007517G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.157G>A	2.37:g.97007517G>A	ENSP00000240423:p.Glu53Lys					NCAPH_uc010fhu.1_Missense_Mutation_p.E29K|NCAPH_uc010fhv.1_Missense_Mutation_p.E42K|NCAPH_uc010yum.1_Missense_Mutation_p.E29K|NCAPH_uc010fhw.1_Missense_Mutation_p.E42K|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	p.E53K	NM_015341	NP_056156	Q15003	CND2_HUMAN			2	241	+		Ovarian(717;0.0221)	53					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.157G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632680	0.29068	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T	0.44083	0.96;0.93;0.96	5.66	1.63	0.23807	.	0.455261	0.26383	N	0.024691	T	0.23688	0.0573	L	0.36672	1.1	0.22880	N	0.998616	B;B;B;B	0.17268	0.012;0.012;0.021;0.012	B;B;B;B	0.12837	0.007;0.007;0.008;0.007	T	0.25950	-1.0117	10	0.06365	T	0.9	-13.1225	5.6191	0.17448	0.1764:0.3425:0.481:0.0	.	29;42;42;53	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	K	53;42;53;42	ENSP00000240423:E53K;ENSP00000405237:E42K;ENSP00000407308:E42K	ENSP00000240423:E53K	E	+	1	0	NCAPH	96371244	0.034000	0.19679	0.621000	0.29145	0.929000	0.56500	1.178000	0.31981	0.332000	0.23536	-0.142000	0.14014	GAA		0.597	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		18	91	0	0	0	0	18	91				
EPB41L5	57669	broad.mit.edu	37	2	120833323	120833323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:120833323C>G	ENST00000263713.5	+	7	713	c.499C>G	c.(499-501)Ctg>Gtg	p.L167V	EPB41L5_ENST00000331393.4_Missense_Mutation_p.L167V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L167V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L167V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L167V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	167	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCTTATAATCTGCAAGGTAA	0.323																																						uc002tmg.2		NA																	0				ovary(1)	1						c.(499-501)CTG>GTG		erythrocyte membrane protein band 4.1 like 5							215.0	208.0	210.0					2																	120833323		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120833323C>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.499C>G	2.37:g.120833323C>G	ENSP00000263713:p.Leu167Val					EPB41L5_uc010flk.2_Missense_Mutation_p.L167V|EPB41L5_uc010fll.2_Missense_Mutation_p.L167V|EPB41L5_uc002tmh.3_Missense_Mutation_p.L167V|EPB41L5_uc010flm.2_5'Flank	p.L167V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			7	625	+			167			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.499C>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043614	0.36085	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.36	3.24	0.37175	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.093874	0.41938	D	0.000785	T	0.72843	0.3511	L	0.45228	1.405	0.58432	D	0.999992	B;B;B	0.28512	0.104;0.214;0.127	B;B;B	0.39771	0.165;0.309;0.255	T	0.66048	-0.6020	10	0.33141	T	0.24	.	2.2035	0.03930	0.2322:0.3514:0.0:0.4164	.	167;167;167	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	V	167	ENSP00000263713:L167V;ENSP00000393856:L167V;ENSP00000329687:L167V;ENSP00000393722:L167V;ENSP00000390439:L167V	ENSP00000263713:L167V	L	+	1	2	EPB41L5	120549793	0.765000	0.28485	0.999000	0.59377	0.987000	0.75469	1.303000	0.33470	1.201000	0.43203	0.655000	0.94253	CTG		0.323	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		10	56	0	0	0	0	10	56				
POTEF	728378	broad.mit.edu	37	2	130832564	130832564	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:130832564G>A	ENST00000409914.2	-	17	2880	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	POTEF_ENST00000357462.5_Silent_p.F827F	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	827	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGGGGTGTTGAAGGTCTCAA	0.612																																						uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(2479-2481)TTC>TTT		prostate, ovary, testis expressed protein on							105.0	123.0	117.0					2																	130832564		2199	4297	6496	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832564G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2481C>T	2.37:g.130832564G>A							p.F827F	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2881	-			827			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2481C>T	CCDS46409.1																																																																																				0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		32	118	0	0	0	0	32	118				
NEB	4703	broad.mit.edu	37	2	152483523	152483523	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:152483523A>G	ENST00000172853.10	-	66	9758	c.9611T>C	c.(9610-9612)aTg>aCg	p.M3204T	NEB_ENST00000604864.1_Missense_Mutation_p.M3447T|NEB_ENST00000397345.3_Missense_Mutation_p.M3447T|NEB_ENST00000603639.1_Missense_Mutation_p.M3447T|NEB_ENST00000427231.2_Missense_Mutation_p.M3447T|NEB_ENST00000409198.1_Missense_Mutation_p.M3204T			P20929	NEBU_HUMAN	nebulin	3204					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACCTTGTTCATATTGAGAGC	0.408																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9610-9612)ATG>ACG		nebulin isoform 3							116.0	111.0	113.0					2																	152483523		1950	4158	6108	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483523A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9611T>C	2.37:g.152483523A>G	ENSP00000172853:p.Met3204Thr						p.M3204T	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9802	-			3204			Nebulin 87.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9611T>C		.	.	.	.	.	.	.	.	.	.	A	19.48	3.835955	0.71373	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.39	5.39	0.77823	.	0.170926	0.64402	D	0.000006	T	0.62122	0.2402	M	0.82517	2.595	0.80722	D	1	D	0.60160	0.987	P	0.60012	0.867	T	0.62181	-0.6908	10	0.19590	T	0.45	.	15.7086	0.77606	1.0:0.0:0.0:0.0	.	3204	P20929	NEBU_HUMAN	T	3204;3447;3447;3204	ENSP00000386259:M3204T;ENSP00000380505:M3447T;ENSP00000416578:M3447T;ENSP00000172853:M3204T	ENSP00000172853:M3204T	M	-	2	0	NEB	152191769	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.943000	0.70211	2.170000	0.68504	0.533000	0.62120	ATG		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	61	0	0	0	0	16	61				
HNRNPA3	220988	broad.mit.edu	37	2	178080540	178080540	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:178080540T>C	ENST00000392524.2	+	3	495	c.258T>C	c.(256-258)gtT>gtC	p.V86V	HNRNPA3_ENST00000411529.2_Silent_p.V64V|HNRNPA3_ENST00000435711.1_Silent_p.V86V			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	86	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTCTTGTGTTGAAGAGGTGG	0.408																																						uc002ulb.1		NA																	0				ovary(2)	2						c.(256-258)GTT>GTC		heterogeneous nuclear ribonucleoprotein A3							64.0	67.0	66.0					2																	178080540		2198	4293	6491	SO:0001819	synonymous_variant	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080540T>C	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.258T>C	2.37:g.178080540T>C						HNRNPA3_uc002ulc.1_Silent_p.V86V|HNRNPA3_uc002uld.2_Silent_p.V64V|HNRNPA3_uc002ule.2_5'Flank	p.V86V	NM_194247	NP_919223	P51991	ROA3_HUMAN			3	364	+			86			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Silent	SNP	ENST00000392524.2	37	c.258T>C	CCDS2273.1																																																																																				0.408	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		17	95	0	0	0	0	17	95				
OSBPL6	114880	broad.mit.edu	37	2	179251794	179251794	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179251794G>A	ENST00000190611.4	+	20	2460	c.2084G>A	c.(2083-2085)aGa>aAa	p.R695K	OSBPL6_ENST00000359685.3_Missense_Mutation_p.R659K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R720K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R699K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R659K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R664K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	695					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAGATATCAGATGGAAAAAC	0.398																																						uc002ulx.2		NA																	0				pancreas(1)	1						c.(2083-2085)AGA>AAA		oxysterol-binding protein-like protein 6 isoform							108.0	101.0	103.0					2																	179251794		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179251794G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2084G>A	2.37:g.179251794G>A	ENSP00000190611:p.Arg695Lys					OSBPL6_uc002uly.2_Missense_Mutation_p.R720K|OSBPL6_uc010zfe.1_Missense_Mutation_p.R664K|OSBPL6_uc002ulz.2_Missense_Mutation_p.R659K|OSBPL6_uc002uma.2_Missense_Mutation_p.R699K	p.R695K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		20	2462	+			695					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2084G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054080	0.75960	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	N	0.25647	0.755	0.80722	D	1	P;B;B;D;P	0.61080	0.934;0.427;0.019;0.989;0.845	P;B;B;P;P	0.59056	0.851;0.319;0.054;0.798;0.58	T	0.02668	-1.1126	10	0.20519	T	0.43	-19.3579	20.1421	0.98061	0.0:0.0:1.0:0.0	.	664;699;659;720;695	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	K	720;659;664;695;659;699	ENSP00000376293:R720K;ENSP00000352713:R659K;ENSP00000387248:R664K;ENSP00000190611:R695K;ENSP00000386885:R659K;ENSP00000318723:R699K	ENSP00000190611:R695K	R	+	2	0	OSBPL6	178960040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	AGA		0.398	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		5	28	0	0	0	0	5	28				
TTN	7273	broad.mit.edu	37	2	179641976	179641976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179641976G>A	ENST00000591111.1	-	27	4938	c.4714C>T	c.(4714-4716)Cga>Tga	p.R1572*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R1526*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R1572*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1572*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1526*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1572*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1526*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12429	Ig-like 7.		R -> Q (in dbSNP:rs12476289). {ECO:0000269|PubMed:10850961, ECO:0000269|PubMed:11717165, ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1526*(3)|p.R1572*(2)		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)			ATTTCAAGTCGGGAACCTTCC	0.393																																						uc010zfg.1		NA																	5	Substitution - Nonsense(5)		skin(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4714-4716)CGA>TGA		titin isoform N2-A							148.0	140.0	143.0					2																	179641976		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641976G>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.4714C>T	2.37:g.179641976G>A	ENSP00000465570:p.Arg1572*					TTN_uc010zfh.1_Nonsense_Mutation_p.R1526*|TTN_uc010zfi.1_Nonsense_Mutation_p.R1526*|TTN_uc010zfj.1_Nonsense_Mutation_p.R1526*|TTN_uc002unb.2_Nonsense_Mutation_p.R1572*|uc002unc.1_RNA	p.R1572*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	4938	-			1572					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.4714C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.031142	0.99506	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.9	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3297	0.55033	0.0:0.0:0.4052:0.5948	.	.	.	.	X	1572;1526;1526;1526;1526;1572	.	ENSP00000340554:R1526X	R	-	1	2	TTN	179350221	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.300000	0.43620	1.446000	0.47643	0.650000	0.86243	CGA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	70	0	0	0	0	21	70				
ORC2	4999	broad.mit.edu	37	2	201791527	201791527	+	Silent	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:201791527G>T	ENST00000234296.2	-	12	1263	c.1014C>A	c.(1012-1014)gtC>gtA	p.V338V	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	338					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AGCCATTGATGACAACGTGAA	0.388																																						uc002uwr.2		NA																	0					0						c.(1012-1014)GTC>GTA		origin recognition complex, subunit 2							128.0	121.0	124.0					2																	201791527		2203	4300	6503	SO:0001819	synonymous_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201791527G>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1014C>A	2.37:g.201791527G>T						ORC2L_uc010zhj.1_Silent_p.V338V	p.V338V	NM_006190	NP_006181	Q13416	ORC2_HUMAN			12	1271	-			338					Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	37	c.1014C>A	CCDS2334.1																																																																																				0.388	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		9	75	1	0	0.00621372	0.0063992	9	75				
GIGYF2	26058	broad.mit.edu	37	2	233684583	233684583	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:233684583G>A	ENST00000409547.1	+	23	2728	c.2417G>A	c.(2416-2418)cGa>cAa	p.R806Q	GIGYF2_ENST00000452341.2_Missense_Mutation_p.R637Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R806Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R800Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R827Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R828Q|GIGYF2_ENST00000373566.3_Missense_Mutation_p.R828Q	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	806	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCATTAAGGCGACAGCGAGAA	0.512																																						uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(2416-2418)CGA>CAA		GRB10 interacting GYF protein 2 isoform b							79.0	84.0	82.0					2																	233684583		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233684583G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2417G>A	2.37:g.233684583G>A	ENSP00000386537:p.Arg806Gln					GIGYF2_uc002vtg.2_Missense_Mutation_p.R800Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R827Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R806Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R800Q|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.R637Q|GIGYF2_uc002vtq.3_Missense_Mutation_p.R139Q	p.R806Q	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	23	2754	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	806			Gln-rich.|Glu-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2417G>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889021	0.72524	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.04	4.16	0.48862	.	0.169427	0.49916	N	0.000129	T	0.64853	0.2636	L	0.51422	1.61	0.52501	D	0.999955	B;B;B;B	0.09022	0.001;0.002;0.002;0.002	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.57130	-0.7864	10	0.18710	T	0.47	-3.9965	9.8082	0.40805	0.1578:0.0:0.8422:0.0	.	637;827;806;800	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	Q	828;806;828;806;800;827;800;637	ENSP00000362667:R828Q;ENSP00000362664:R806Q;ENSP00000386765:R828Q;ENSP00000386537:R806Q;ENSP00000387070:R800Q;ENSP00000387170:R827Q;ENSP00000410297:R800Q;ENSP00000411505:R637Q	ENSP00000362664:R806Q	R	+	2	0	GIGYF2	233392827	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	4.959000	0.63666	1.115000	0.41800	0.462000	0.41574	CGA		0.512	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		5	22	0	0	0	0	5	22				
HAO1	54363	broad.mit.edu	37	20	7866452	7866452	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:7866452G>A	ENST00000378789.3	-	6	924	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	291	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCACACCCCCGTCCAGGAAGA	0.502																																						uc002wmw.1		NA																	0				ovary(3)	3						c.(871-873)GAC>GAT		hydroxyacid oxidase 1							121.0	120.0	120.0					20																	7866452		2203	4300	6503	SO:0001819	synonymous_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866452G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.873C>T	20.37:g.7866452G>A						HAO1_uc010gbu.2_Silent_p.D291D	p.D291D	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			6	897	-			291			FMN binding.|FMN hydroxy acid dehydrogenase.|FMN (By similarity).		Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	c.873C>T	CCDS13100.1																																																																																				0.502	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			15	120	0	0	0	0	15	120				
XRN2	22803	broad.mit.edu	37	20	21335499	21335499	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:21335499C>T	ENST00000377191.3	+	21	2104	c.2009C>T	c.(2008-2010)aCt>aTt	p.T670I	XRN2_ENST00000430571.2_Missense_Mutation_p.T594I|XRN2_ENST00000539513.1_Missense_Mutation_p.T616I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	670					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAGACCTCACTCCAGAAGAG	0.398																																						uc002wsf.1		NA																	0				skin(1)	1						c.(2008-2010)ACT>ATT		5'-3' exoribonuclease 2							91.0	80.0	84.0					20																	21335499		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21335499C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2009C>T	20.37:g.21335499C>T	ENSP00000366396:p.Thr670Ile					XRN2_uc002wsg.1_Missense_Mutation_p.T594I|XRN2_uc010zsk.1_Missense_Mutation_p.T616I	p.T670I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			21	2104	+			670					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2009C>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915404	0.92178	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.38240	1.17;1.15;1.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.69243	-0.5196	10	0.87932	D	0	-18.3311	20.0858	0.97800	0.0:1.0:0.0:0.0	.	670	Q9H0D6	XRN2_HUMAN	I	670;594;616	ENSP00000366396:T670I;ENSP00000413548:T594I;ENSP00000441113:T616I	ENSP00000366396:T670I	T	+	2	0	XRN2	21283499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.463000	0.80869	2.753000	0.94483	0.650000	0.86243	ACT		0.398	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		3	25	0	0	0	0	3	25				
PFKL	5211	broad.mit.edu	37	21	45746680	45746680	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr21:45746680G>A	ENST00000349048.4	+	22	2333	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Missense_Mutation_p.A807T	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	760	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGTATGGCCGCCTACGTGTC	0.667																																						uc002zel.2		NA																	0					0						c.(2278-2280)GCC>ACC		liver phosphofructokinase							39.0	33.0	35.0					21																	45746680		2199	4299	6498	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45746680G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2278G>A	21.37:g.45746680G>A	ENSP00000269848:p.Ala760Thr					PFKL_uc002zek.2_Missense_Mutation_p.A807T|PFKL_uc002zem.2_Missense_Mutation_p.A347T|PFKL_uc002zen.2_Missense_Mutation_p.A347T	p.A760T	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	22	2337	+			760					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.2278G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491312	0.04322	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80304	-1.34;-1.36	3.86	2.98	0.34508	.	0.122675	0.53938	U	0.000051	T	0.52125	0.1715	N	0.02539	-0.55	0.22366	N	0.99916	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.38373	-0.9664	10	0.15066	T	0.55	-34.2487	7.1872	0.25806	0.2146:0.0:0.7854:0.0	.	760;807	P17858;P17858-2	K6PL_HUMAN;.	T	760;553;807	ENSP00000269848:A760T;ENSP00000384038:A807T	ENSP00000269848:A760T	A	+	1	0	PFKL	44571108	1.000000	0.71417	0.280000	0.24747	0.460000	0.32559	4.463000	0.60128	0.603000	0.29913	0.467000	0.42956	GCC		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			3	9	0	0	0	0	3	9				
CCT8L2	150160	broad.mit.edu	37	22	17072823	17072823	+	Silent	SNP	G	G	A	rs137862002		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:17072823G>A	ENST00000359963.3	-	1	877	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.C206C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCAGCGCGCACACCCCAA	0.617																																						uc002zlp.1		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(1)	1						c.(616-618)TGC>TGT		T-complex protein 1		G		0,4406		0,0,2203	64.0	63.0	64.0		618	1.8	0.1	22	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCT8L2	NM_014406.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		206/558	17072823	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072823G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.618C>T	22.37:g.17072823G>A							p.C206C	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	878	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	206					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.618C>T	CCDS13738.1																																																																																				0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			4	83	0	0	0	0	4	83				
MYH9	4627	broad.mit.edu	37	22	36710351	36710351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:36710351C>G	ENST00000216181.5	-	13	1623	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	465	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACAGCTGCTCAAACGAGTTC	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1393-1395)GAG>CAG		myosin, heavy polypeptide 9, non-muscle							135.0	108.0	117.0					22																	36710351		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36710351C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1393G>C	22.37:g.36710351C>G	ENSP00000216181:p.Glu465Gln					MYH9_uc003aph.1_Missense_Mutation_p.E329Q	p.E465Q	NM_002473	NP_002464	P35579	MYH9_HUMAN			13	1624	-			465			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1393G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819732	0.71028	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.92149	-2.98	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.179749	0.46442	D	0.000281	D	0.97275	0.9109	H	0.98769	4.325	0.80722	D	1	D	0.57899	0.981	P	0.54270	0.747	D	0.99069	1.0833	10	0.87932	D	0	.	18.4598	0.90735	0.0:1.0:0.0:0.0	.	465	P35579	MYH9_HUMAN	Q	329;465	ENSP00000216181:E465Q	ENSP00000216181:E465Q	E	-	1	0	MYH9	35040297	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.524000	0.85096	0.558000	0.71614	GAG		0.547	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		14	32	0	0	0	0	14	32				
PICK1	9463	broad.mit.edu	37	22	38465066	38465066	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:38465066G>A	ENST00000404072.3	+	6	723	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Missense_Mutation_p.V126M|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	126					ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCACCGGCTGGTGGAGAACAT	0.632																																						uc003auq.2		NA																	0					0						c.(376-378)GTG>ATG		protein interacting with C kinase 1							54.0	46.0	49.0					22																	38465066		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38465066G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.376G>A	22.37:g.38465066G>A	ENSP00000385205:p.Val126Met					PICK1_uc003aur.2_Missense_Mutation_p.V126M|PICK1_uc003aus.2_Missense_Mutation_p.V126M|PICK1_uc003aut.2_Missense_Mutation_p.V126M	p.V126M	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			6	766	+	Melanoma(58;0.045)		126					B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.376G>A	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881295	0.91740	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976;ENST00000435166	T;T;T;T	0.79352	-1.26;-1.26;-1.26;1.0	4.86	4.86	0.63082	Arfaptin-like (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	M	0.84846	2.72	0.80722	D	1	P	0.44380	0.834	P	0.55923	0.787	D	0.89985	0.4103	10	0.87932	D	0	-24.1878	18.3685	0.90399	0.0:0.0:1.0:0.0	.	126	Q9NRD5	PICK1_HUMAN	M	126	ENSP00000385205:V126M;ENSP00000398141:V126M;ENSP00000349465:V126M;ENSP00000397588:V126M	ENSP00000349465:V126M	V	+	1	0	PICK1	36795012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.596000	0.98267	2.404000	0.81709	0.561000	0.74099	GTG		0.632	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		10	15	0	0	0	0	10	15				
IL17RC	84818	broad.mit.edu	37	3	9960234	9960234	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:9960234C>T	ENST00000295981.3	+	5	837	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	IL17RC_ENST00000383812.4_Missense_Mutation_p.R136C|IL17RC_ENST00000455057.1_Missense_Mutation_p.R136C|IL17RC_ENST00000403601.3_Missense_Mutation_p.R136C|IL17RC_ENST00000416074.2_Missense_Mutation_p.R7C|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R136C	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	207					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCTACTGCCCGCTGCGTCCT	0.572																																						uc003bua.2		NA																	0				ovary(1)|pancreas(1)	2						c.(619-621)CGC>TGC		interleukin 17 receptor C isoform 1 precursor							96.0	88.0	91.0					3																	9960234		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9960234C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.619C>T	3.37:g.9960234C>T	ENSP00000295981:p.Arg207Cys					CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.R111C|IL17RC_uc003btz.2_Missense_Mutation_p.R136C|IL17RC_uc011atp.1_Missense_Mutation_p.R7C|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.R136C|IL17RC_uc010hct.2_Missense_Mutation_p.R136C|IL17RC_uc010hcu.2_Missense_Mutation_p.R136C|IL17RC_uc010hcv.2_Missense_Mutation_p.R136C|IL17RC_uc011atq.1_Missense_Mutation_p.R136C|IL17RC_uc003buc.2_5'UTR	p.R207C	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			5	855	+			207			Extracellular (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.619C>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905854	0.72868	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.12	5.12	0.69794	.	0.114524	0.39909	N	0.001232	T	0.39226	0.1070	M	0.66939	2.045	0.40283	D	0.978412	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;1.0;0.999;1.0	D;D;P;P;D;D;D;P;D	0.71184	0.923;0.96;0.84;0.84;0.911;0.911;0.923;0.791;0.972	T	0.26573	-1.0099	10	0.87932	D	0	-19.1073	14.0619	0.64804	0.0:1.0:0.0:0.0	.	136;7;136;136;136;136;136;207;136	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	C	136;111;207;111;136;7;136;136	ENSP00000373323:R136C;ENSP00000414609:R111C;ENSP00000295981:R207C;ENSP00000401128:R111C;ENSP00000384969:R136C;ENSP00000395315:R7C;ENSP00000407894:R136C;ENSP00000396064:R136C	ENSP00000295981:R207C	R	+	1	0	IL17RC	9935234	0.940000	0.31905	0.963000	0.40424	0.822000	0.46500	1.860000	0.39428	2.390000	0.81377	0.555000	0.69702	CGC		0.572	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		8	51	0	0	0	0	8	51				
BRK1	55845	broad.mit.edu	37	3	10157479	10157479	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:10157479A>G	ENST00000530758.1	+	1	204	c.94A>G	c.(94-96)Atc>Gtc	p.I32V	BRK1_ENST00000256463.6_Missense_Mutation_p.I32V	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	32					actin cytoskeleton organization (GO:0030036)|cell motility (GO:0048870)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|protein homotrimerization (GO:0070207)|Rac protein signal transduction (GO:0016601)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(1)|skin(1)	2						CATCAAGAAAATCGCAGACTT	0.632																																						uc003bvb.2		NA																	0					0						c.(94-96)ATC>GTC		chromosome 3 open reading frame 10							49.0	52.0	51.0					3																	10157479		1936	4128	6064	SO:0001583	missense	55845					cytoplasm|cytoskeleton		g.chr3:10157479A>G	AF161418	CCDS54553.1	3p25.3	2011-06-07	2011-06-07	2011-06-07	ENSG00000254999	ENSG00000254999			23057	protein-coding gene	gene with protein product	"""haematopoietic stem/progenitor cell protein 300"", ""BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"""	611183	"""chromosome 3 open reading frame 10"""	C3orf10		14695531	Standard	NM_018462		Approved	MDS027, HSPC300	uc003bvb.3	Q8WUW1	OTTHUMG00000155400	ENST00000530758.1:c.94A>G	3.37:g.10157479A>G	ENSP00000432472:p.Ile32Val						p.I32V	NM_018462	NP_060932	Q8WUW1	BRK1_HUMAN			1	147	+			32					B2R5E2|Q9P082	Missense_Mutation	SNP	ENST00000530758.1	37	c.94A>G	CCDS54553.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692041	0.88735	.	.	ENSG00000254999	ENST00000530758;ENST00000256463	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	.	.	.	0.58432	D	0.999995	P	0.52316	0.952	P	0.51742	0.678	T	0.68014	-0.5521	8	0.54805	T	0.06	.	13.5074	0.61491	1.0:0.0:0.0:0.0	.	32	Q8WUW1	BRK1_HUMAN	V	32	.	ENSP00000444659:I32V	I	+	1	0	BRK1	10132479	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	8.541000	0.90644	2.068000	0.61886	0.456000	0.33151	ATC		0.632	BRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339900.2	NM_018462		7	30	0	0	0	0	7	30				
RARB	5915	broad.mit.edu	37	3	25611301	25611301	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:25611301C>T	ENST00000404969.1	+	4	522	c.522C>T	c.(520-522)tgC>tgT	p.C174C	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.C55C|RARB_ENST00000437042.2_Silent_p.C55C|RARB_ENST00000330688.4_Silent_p.C167C			P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGCAAGAATGCACAGAGAGCT	0.493																																						uc011awl.1		NA																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(520-522)TGC>TGT		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						124.0	119.0	121.0					3																	25611301		2203	4300	6503	SO:0001819	synonymous_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611301C>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.522C>T	3.37:g.25611301C>T						RARB_uc003cdi.1_Silent_p.C55C|RARB_uc003cdh.2_Silent_p.C167C	p.C174C	NM_016152	NP_057236	P10826	RARB_HUMAN			4	588	+			174			Hinge.		P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	37	c.522C>T																																																																																					0.493	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		5	43	0	0	0	0	5	43				
TRAK1	22906	broad.mit.edu	37	3	42242386	42242386	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:42242386A>G	ENST00000327628.5	+	12	1667	c.1267A>G	c.(1267-1269)Atg>Gtg	p.M423V	TRAK1_ENST00000396175.1_Missense_Mutation_p.M365V|TRAK1_ENST00000341421.3_Missense_Mutation_p.M365V|TRAK1_ENST00000449246.1_Missense_Mutation_p.M349V|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	423	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTCTCCCATGAACATCCC	0.567																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	0				ovary(1)	1						c.(1267-1269)ATG>GTG		OGT(O-Glc-NAc transferase)-interacting protein							148.0	131.0	137.0					3																	42242386		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242386A>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1267A>G	3.37:g.42242386A>G	ENSP00000328998:p.Met423Val					TRAK1_uc011azh.1_Missense_Mutation_p.M423V|TRAK1_uc011azi.1_Missense_Mutation_p.M423V|TRAK1_uc003ckz.3_Missense_Mutation_p.M349V|TRAK1_uc011azj.1_Missense_Mutation_p.M349V|TRAK1_uc003cla.2_Missense_Mutation_p.M365V	p.M423V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			12	1483	+			423			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1267A>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973885	0.34848	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.85	5.85	0.93711	Trafficking kinesin-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.40543	1.245	0.38407	D	0.945829	B;B;B;B;B;B	0.33857	0.105;0.37;0.37;0.085;0.029;0.429	B;B;B;B;B;B	0.35510	0.065;0.19;0.204;0.039;0.048;0.183	T	0.28964	-1.0027	10	0.32370	T	0.25	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	349;365;423;365;349;423	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	V	423;423;349;365;365;141	ENSP00000328998:M423V;ENSP00000410717:M349V;ENSP00000379478:M365V;ENSP00000340702:M365V;ENSP00000413729:M141V	ENSP00000328998:M423V	M	+	1	0	TRAK1	42217390	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.147000	0.50639	2.233000	0.73108	0.533000	0.62120	ATG		0.567	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		13	67	0	0	0	0	13	67				
KIF15	56992	broad.mit.edu	37	3	44852484	44852484	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:44852484G>A	ENST00000326047.4	+	17	2267	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	KIF15_ENST00000425755.1_Silent_p.E341E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	706					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCTCCTGAGATGAATGAAC	0.343																																						uc003cnx.3		NA																	0				ovary(1)	1						c.(2116-2118)GAG>GAA		kinesin family member 15							64.0	68.0	67.0					3																	44852484		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44852484G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2118G>A	3.37:g.44852484G>A						KIF15_uc010hiq.2_Silent_p.E609E|KIF15_uc003cny.1_Silent_p.E341E	p.E706E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	17	2267	+			706			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.2118G>A	CCDS33744.1																																																																																				0.343	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			9	50	0	0	0	0	9	50				
SLC12A8	84561	broad.mit.edu	37	3	124810400	124810400	+	Splice_Site	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:124810400C>A	ENST00000393469.4	-	11	1853	c.1804G>T	c.(1804-1806)Gct>Tct	p.A602S	SLC12A8_ENST00000469902.1_Splice_Site_p.A602S|SLC12A8_ENST00000423114.2_Splice_Site_p.A631S|SLC12A8_ENST00000430155.2_Splice_Site_p.A403S|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	602					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GACCCAACAGCCTGTGAAAAC	0.468																																						uc003ehv.3		NA																	0					0						c.(1804-1806)GCT>TCT		solute carrier family 12, member 8							66.0	66.0	66.0					3																	124810400		1932	4146	6078	SO:0001630	splice_region_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810400C>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1804-1G>T	3.37:g.124810400C>A						SLC12A8_uc003ehw.3_Missense_Mutation_p.A631S|SLC12A8_uc003eht.3_Missense_Mutation_p.A403S|SLC12A8_uc003ehu.3_Missense_Mutation_p.A355S|SLC12A8_uc010hry.2_Intron	p.A602S	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			12	1915	-			602			Helical; (Potential).		C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.1804G>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870611	0.91587	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.91792	-2.91;-2.75;-2.77;-2.75	5.98	5.98	0.97165	.	.	.	.	.	D	0.95931	0.8675	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.993	D	0.95761	0.8800	9	0.87932	D	0	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	631;602;403	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	S	403;602;631;602	ENSP00000415713:A403S;ENSP00000377112:A602S;ENSP00000404243:A631S;ENSP00000418783:A602S	ENSP00000377112:A602S	A	-	1	0	SLC12A8	126293090	1.000000	0.71417	0.996000	0.52242	0.821000	0.46438	6.185000	0.72013	2.838000	0.97847	0.655000	0.94253	GCT		0.468	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628	Missense_Mutation	10	26	1	0	0.00621372	0.0063992	10	26				
VEPH1	79674	broad.mit.edu	37	3	157031448	157031448	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:157031448C>G	ENST00000362010.2	-	11	2279	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.E658Q|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	658						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATGGCAGTTTCAAAGCTGTGA	0.478																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(1972-1974)GAA>CAA		ventricular zone expressed PH domain homolog 1							74.0	74.0	74.0					3																	157031448		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157031448C>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1972G>C	3.37:g.157031448C>G	ENSP00000354919:p.Glu658Gln					VEPH1_uc003fbk.1_Missense_Mutation_p.E658Q|VEPH1_uc010hvu.1_Intron	p.E658Q	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		11	2289	-			658					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1972G>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912377	0.33721	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.08720	3.06;3.06	5.01	5.01	0.66863	.	0.268828	0.35739	N	0.003007	T	0.08582	0.0213	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.46144	0.505	T	0.12967	-1.0527	10	0.44086	T	0.13	-0.7742	11.0394	0.47823	0.0:0.9121:0.0:0.0879	.	658	Q14D04	MELT_HUMAN	Q	658	ENSP00000354919:E658Q;ENSP00000376577:E658Q	ENSP00000354919:E658Q	E	-	1	0	VEPH1	158514142	1.000000	0.71417	0.926000	0.36857	0.796000	0.44982	2.588000	0.46137	2.476000	0.83614	0.484000	0.47621	GAA		0.478	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		12	46	0	0	0	0	12	46				
SI	6476	broad.mit.edu	37	3	164764678	164764678	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:164764678T>A	ENST00000264382.3	-	16	1900	c.1838A>T	c.(1837-1839)gAa>gTa	p.E613V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	613	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)	TATAGACCATTCCATTTGTTC	0.383										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1837-1839)GAA>GTA		sucrase-isomaltase	Acarbose(DB00284)						107.0	104.0	105.0					3																	164764678		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.chr3:164764678T>A	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.1838A>T	3.37:g.164764678T>A	ENSP00000264382:p.Glu613Val	HNSCC(35;0.089)					p.E613V	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1900	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	613			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1838A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923643	0.73213	.	.	ENSG00000090402	ENST00000264382	D	0.92647	-3.08	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.103535	0.64402	D	0.000005	D	0.92192	0.7524	L	0.58583	1.82	0.39683	D	0.970927	D	0.56746	0.977	P	0.53490	0.727	D	0.91914	0.5542	10	0.45353	T	0.12	.	9.0059	0.36111	0.0:0.0918:0.0:0.9082	.	613	P14410	SUIS_HUMAN	V	613	ENSP00000264382:E613V	ENSP00000264382:E613V	E	-	2	0	SI	166247372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.853000	0.55941	2.037000	0.60232	0.383000	0.25322	GAA		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		29	91	0	0	0	0	29	91				
KLHL24	54800	broad.mit.edu	37	3	183368442	183368442	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:183368442A>G	ENST00000454652.2	+	4	684	c.298A>G	c.(298-300)Agg>Ggg	p.R100G	KLHL24_ENST00000476808.1_Missense_Mutation_p.R100G|KLHL24_ENST00000242810.6_Missense_Mutation_p.R100G	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGACCACAGGGAAAGCCG	0.398																																						uc003flv.2		NA																	0				ovary(1)	1						c.(298-300)AGG>GGG		DRE1 protein							204.0	195.0	198.0					3																	183368442		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368442A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.298A>G	3.37:g.183368442A>G	ENSP00000395012:p.Arg100Gly					KLHL24_uc003flw.2_Missense_Mutation_p.R100G|KLHL24_uc003flx.2_Missense_Mutation_p.R100G	p.R100G	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	593	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		100			BTB.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.298A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.161233	0.57368	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000454495;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.44	-0.425	0.12317	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044858	0.85682	D	0.000000	T	0.77585	0.4152	M	0.69823	2.125	0.54753	D	0.999982	D;B	0.76494	0.999;0.36	D;P	0.78314	0.991;0.463	T	0.75619	-0.3255	10	0.27082	T	0.32	.	16.0654	0.80867	0.4239:0.5761:0.0:0.0	.	100;100	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	G	100	ENSP00000242810:R100G;ENSP00000417347:R100G;ENSP00000416836:R100G;ENSP00000408567:R100G;ENSP00000417275:R100G;ENSP00000395012:R100G;ENSP00000418922:R100G;ENSP00000419010:R100G	ENSP00000242810:R100G	R	+	1	2	KLHL24	184851136	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.930000	0.48924	0.013000	0.14918	-0.661000	0.03856	AGG		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		52	119	0	0	0	0	52	119				
RTP1	132112	broad.mit.edu	37	3	186917476	186917476	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:186917476C>T	ENST00000312295.4	+	2	440	c.410C>T	c.(409-411)aCg>aTg	p.T137M	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	137					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GAGTGCGGCACGGCGCGGCTG	0.662																																						uc003frg.2		NA																	0				ovary(2)|breast(1)	3						c.(409-411)ACG>ATG		receptor transporting protein 1							31.0	32.0	32.0					3																	186917476		2201	4273	6474	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917476C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.410C>T	3.37:g.186917476C>T	ENSP00000311712:p.Thr137Met						p.T137M	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	440	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.410C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034836	0.35893	.	.	ENSG00000175077	ENST00000312295	T	0.15256	2.44	5.7	4.81	0.61882	.	0.691557	0.15710	N	0.248468	T	0.32585	0.0834	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.08249	-1.0731	10	0.48119	T	0.1	.	11.9494	0.52946	0.1734:0.8266:0.0:0.0	.	137	P59025	RTP1_HUMAN	M	137	ENSP00000311712:T137M	ENSP00000311712:T137M	T	+	2	0	RTP1	188400170	0.001000	0.12720	0.186000	0.23195	0.087000	0.18053	0.592000	0.23984	1.386000	0.46466	0.561000	0.74099	ACG		0.662	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		8	40	0	0	0	0	8	40				
KLB	152831	broad.mit.edu	37	4	39449964	39449964	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:39449964C>G	ENST00000257408.4	+	5	2890	c.2793C>G	c.(2791-2793)ttC>ttG	p.F931L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	931	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATTATGCATTCAAACTGGCTG	0.323																																						uc003gua.2		NA																	0				skin(1)	1						c.(2791-2793)TTC>TTG		klotho beta							36.0	39.0	38.0					4																	39449964		2201	4300	6501	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39449964C>G	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2793C>G	4.37:g.39449964C>G	ENSP00000257408:p.Phe931Leu					KLB_uc011byj.1_Missense_Mutation_p.F922L	p.F931L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			5	2890	+			931			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2793C>G	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900835	0.72754	.	.	ENSG00000134962	ENST00000257408	T	0.30714	1.52	5.78	3.81	0.43845	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.099564	0.64402	D	0.000001	T	0.40645	0.1125	L	0.53249	1.67	0.35972	D	0.835412	D;D	0.58970	0.984;0.984	P;P	0.61800	0.828;0.894	T	0.52109	-0.8619	10	0.72032	D	0.01	-26.8049	4.2141	0.10526	0.0:0.5455:0.0:0.4545	.	922;931	B7ZL50;Q86Z14	.;KLOTB_HUMAN	L	931	ENSP00000257408:F931L	ENSP00000257408:F931L	F	+	3	2	KLB	39126359	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.244000	0.43124	1.455000	0.47813	0.313000	0.20887	TTC		0.323	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		7	34	0	0	0	0	7	34				
SLC4A4	8671	broad.mit.edu	37	4	72316995	72316995	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:72316995T>C	ENST00000264485.5	+	11	1416	c.1299T>C	c.(1297-1299)tgT>tgC	p.C433C	SLC4A4_ENST00000512686.1_Silent_p.C389C|SLC4A4_ENST00000340595.3_Silent_p.C389C|SLC4A4_ENST00000351898.6_Silent_p.C433C|SLC4A4_ENST00000425175.1_Silent_p.C433C|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	433					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATGGGGATTGTGAAGAATTGC	0.433																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1297-1299)TGT>TGC		solute carrier family 4, sodium bicarbonate							221.0	176.0	191.0					4																	72316995		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316995T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1299T>C	4.37:g.72316995T>C						SLC4A4_uc010iic.2_Silent_p.C433C|SLC4A4_uc010iib.2_Silent_p.C433C|SLC4A4_uc003hfz.2_Silent_p.C433C|SLC4A4_uc003hgc.3_Silent_p.C389C|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Silent_p.C311C|SLC4A4_uc003hgb.3_Silent_p.C389C	p.C433C	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1416	+			433			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1299T>C	CCDS43236.1																																																																																				0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		8	39	0	0	0	0	8	39				
FAM13A	10144	broad.mit.edu	37	4	89660214	89660214	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:89660214C>G	ENST00000264344.5	-	20	2736	c.2529G>C	c.(2527-2529)caG>caC	p.Q843H	FAM13A_ENST00000508369.1_Missense_Mutation_p.Q517H|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q503H|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q489H|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q429H|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q517H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	843					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGAGGATCTGTTTGACCA	0.493																																						uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.(2527-2529)CAG>CAC		family with sequence similarity 13, member A1							203.0	163.0	176.0					4																	89660214		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89660214C>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2529G>C	4.37:g.89660214C>G	ENSP00000264344:p.Gln843His					FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Missense_Mutation_p.Q314H|FAM13A_uc003hsb.1_Missense_Mutation_p.Q517H|FAM13A_uc003hsd.1_Missense_Mutation_p.Q517H|FAM13A_uc003hsc.1_Missense_Mutation_p.Q503H|FAM13A_uc011cdq.1_Missense_Mutation_p.Q489H|FAM13A_uc003hsf.1_Missense_Mutation_p.Q429H|FAM13A_uc003hsg.1_Missense_Mutation_p.Q314H	p.Q843H	NM_014883	NP_055698	O94988	FA13A_HUMAN			20	2737	-			843					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2529G>C	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782138	0.90282	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.60548	0.18;1.63;0.88;0.91;0.88;0.89	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.87578	0.99;0.997;0.996;0.998;0.987;0.996	T	0.79455	-0.1796	10	0.87932	D	0	.	18.863	0.92280	0.0:1.0:0.0:0.0	.	489;429;843;517;503;517	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	H	517;843;503;429;517;489	ENSP00000378450:Q517H;ENSP00000264344:Q843H;ENSP00000427189:Q503H;ENSP00000421914:Q429H;ENSP00000421562:Q517H;ENSP00000423252:Q489H	ENSP00000264344:Q843H	Q	-	3	2	FAM13A	89879237	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.345000	0.44018	2.694000	0.91930	0.650000	0.86243	CAG		0.493	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			8	32	0	0	0	0	8	32				
UNC5C	8633	broad.mit.edu	37	4	96256763	96256763	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:96256763T>C	ENST00000453304.1	-	2	492	c.144A>G	c.(142-144)gaA>gaG	p.E48E	UNC5C_ENST00000506749.1_Silent_p.E48E|UNC5C_ENST00000504962.1_Silent_p.E48E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	48					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCTGGGAGTTCATGAAAAA	0.393																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(142-144)GAA>GAG		unc5C precursor							59.0	57.0	57.0					4																	96256763		2202	4298	6500	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256763T>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.144A>G	4.37:g.96256763T>C						UNC5C_uc010ilc.1_Silent_p.E48E|UNC5C_uc003htq.2_Silent_p.E48E	p.E48E	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	2	298	-		Hepatocellular(203;0.114)	48			Extracellular (Potential).		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.144A>G	CCDS3643.1																																																																																				0.393	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		5	24	0	0	0	0	5	24				
PRDM5	11107	broad.mit.edu	37	4	121732584	121732584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:121732584T>C	ENST00000264808.3	-	8	1126	c.886A>G	c.(886-888)Ata>Gta	p.I296V	PRDM5_ENST00000428209.2_Missense_Mutation_p.I265V|PRDM5_ENST00000515109.1_Missense_Mutation_p.I265V|RNU6-550P_ENST00000391057.1_RNA	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	296					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTGAACATATAAGCTTTTTC	0.299																																						uc003idn.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(886-888)ATA>GTA		PR domain containing 5							55.0	55.0	55.0					4																	121732584		2201	4279	6480	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121732584T>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.886A>G	4.37:g.121732584T>C	ENSP00000264808:p.Ile296Val					PRDM5_uc003ido.2_Missense_Mutation_p.I265V|PRDM5_uc010ine.2_Missense_Mutation_p.I265V	p.I296V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			8	1136	-			296			C2H2-type 5.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.886A>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804047	0.31869	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.21361	2.01;2.01;2.01	5.82	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.417900	0.29053	N	0.013291	T	0.06508	0.0167	N	0.00980	-1.08	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.25467	-1.0131	10	0.46703	T	0.11	-13.0119	9.4784	0.38887	0.0:0.2626:0.0:0.7374	.	265;265;296	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	V	296;265;265	ENSP00000264808:I296V;ENSP00000422309:I265V;ENSP00000404832:I265V	ENSP00000264808:I296V	I	-	1	0	PRDM5	121952034	0.997000	0.39634	0.985000	0.45067	0.994000	0.84299	0.417000	0.21214	-0.068000	0.12953	0.533000	0.62120	ATA		0.299	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			4	27	0	0	0	0	4	27				
PCDH18	54510	broad.mit.edu	37	4	138450946	138450946	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:138450946T>C	ENST00000344876.4	-	1	2683	c.2297A>G	c.(2296-2298)aAt>aGt	p.N766S	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.N766S|PCDH18_ENST00000507846.1_Missense_Mutation_p.N546S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	766					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGAGTGCCATTTATGGTAGG	0.517																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(2296-2298)AAT>AGT		protocadherin 18 precursor							204.0	171.0	182.0					4																	138450946		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138450946T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2297A>G	4.37:g.138450946T>C	ENSP00000355082:p.Asn766Ser					PCDH18_uc003ihf.3_Missense_Mutation_p.N759S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.N546S|PCDH18_uc011cha.1_Intron	p.N766S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2684	-	all_hematologic(180;0.24)		766			Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2297A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812411	0.32053	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.6;0.64;0.54	5.53	4.34	0.51931	.	0.000000	0.46145	D	0.000304	T	0.44286	0.1286	M	0.62723	1.935	0.80722	D	1	P;P;P	0.43750	0.816;0.532;0.816	B;B;B	0.37091	0.158;0.19;0.241	T	0.37596	-0.9699	10	0.11794	T	0.64	.	11.9832	0.53131	0.1298:0.0:0.0:0.8702	.	546;766;766	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	766;766;546	ENSP00000355082:N766S;ENSP00000390688:N766S;ENSP00000425903:N546S	ENSP00000355082:N766S	N	-	2	0	PCDH18	138670396	1.000000	0.71417	0.421000	0.26609	0.980000	0.70556	7.473000	0.81007	1.080000	0.41073	0.533000	0.62120	AAT		0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		11	55	0	0	0	0	11	55				
NPR3	4883	broad.mit.edu	37	5	32712139	32712139	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:32712139A>G	ENST00000265074.8	+	1	600	c.257A>G	c.(256-258)aAc>aGc	p.N86S	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.N86S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	86					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGAGGGCAACGGGACTGGG	0.632																																						uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(256-258)AAC>AGC		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						29.0	35.0	33.0					5																	32712139		1972	4151	6123	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712139A>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.257A>G	5.37:g.32712139A>G	ENSP00000265074:p.Asn86Ser					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.N86S	p.N86S	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	475	+			86			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.257A>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384175	0.42308	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83335	-1.71;-1.71	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.340884	0.36034	N	0.002836	T	0.64768	0.2628	N	0.04355	-0.22	0.80722	D	1	B;B	0.21071	0.051;0.051	B;B	0.17433	0.018;0.018	T	0.62186	-0.6907	10	0.33940	T	0.23	-18.9571	10.5747	0.45221	0.9226:0.0:0.0774:0.0	.	86;86	P17342;Q60I31	ANPRC_HUMAN;.	S	86	ENSP00000265074:N86S;ENSP00000398028:N86S	ENSP00000265074:N86S	N	+	2	0	NPR3	32747896	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.700000	0.47085	2.054000	0.61138	0.459000	0.35465	AAC		0.632	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		4	46	0	0	0	0	4	46				
GZMK	3003	broad.mit.edu	37	5	54329703	54329703	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:54329703G>C	ENST00000231009.2	+	5	814	c.744G>C	c.(742-744)aaG>aaC	p.K248N	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTTAACCAAGAAATACCAGA	0.423																																						uc003jpl.1		NA																	0					0						c.(742-744)AAG>AAC		granzyme K precursor							111.0	103.0	106.0					5																	54329703		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329703G>C	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.744G>C	5.37:g.54329703G>C	ENSP00000231009:p.Lys248Asn						p.K248N	NM_002104	NP_002095	P49863	GRAK_HUMAN			5	788	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	248			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.744G>C	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741204	0.30865	.	.	ENSG00000113088	ENST00000231009	D	0.88818	-2.43	4.84	1.05	0.20165	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452591	0.23065	N	0.052336	T	0.74703	0.3751	N	0.11698	0.16	0.20074	N	0.999931	P	0.49358	0.923	B	0.43478	0.421	T	0.67581	-0.5634	10	0.29301	T	0.29	.	3.5883	0.07979	0.3565:0.0:0.4757:0.1678	.	248	P49863	GRAK_HUMAN	N	248	ENSP00000231009:K248N	ENSP00000231009:K248N	K	+	3	2	GZMK	54365460	0.034000	0.19679	0.295000	0.24960	0.846000	0.48090	0.140000	0.16056	0.063000	0.16370	0.655000	0.94253	AAG		0.423	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		6	58	0	0	0	0	6	58				
PCDHB1	29930	broad.mit.edu	37	5	140431659	140431659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:140431659C>T	ENST00000306549.3	+	1	681	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCTGGACCGAGAGGAGCA	0.577																																						uc003lik.1		NA																	0					0						c.(604-606)CGA>TGA		protocadherin beta 1 precursor							29.0	30.0	30.0					5																	140431659		2203	4300	6503	SO:0001587	stop_gained	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431659C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.604C>T	5.37:g.140431659C>T	ENSP00000307234:p.Arg202*						p.R202*	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	681	+			202			Cadherin 2.|Extracellular (Potential).		Q2M257	Nonsense_Mutation	SNP	ENST00000306549.3	37	c.604C>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986504	0.53934	.	.	ENSG00000171815	ENST00000306549	.	.	.	6.08	-2.95	0.05564	.	0.000000	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.9154	0.99977	0.161:0.839:0.0:0.0	.	.	.	.	X	202	.	ENSP00000307234:R202X	R	+	1	2	PCDHB1	140411843	0.222000	0.23652	0.952000	0.39060	0.553000	0.35397	0.881000	0.28173	-0.365000	0.08076	-1.014000	0.02459	CGA		0.577	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		4	27	0	0	0	0	4	27				
TLX3	30012	broad.mit.edu	37	5	170738466	170738466	+	Missense_Mutation	SNP	G	G	A	rs554835251		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:170738466G>A	ENST00000296921.5	+	3	821	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	247					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAACACGACGCCTTCCAAAA	0.652			T	BCL11B	T-ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		10396	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2		NA		Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(739-741)GCC>ACC		T-cell leukemia homeobox 3							58.0	51.0	54.0					5																	170738466		2202	4299	6501	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170738466G>A	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.739G>A	5.37:g.170738466G>A	ENSP00000296921:p.Ala247Thr					uc003mbe.1_5'Flank	p.A247T	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	821	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	247					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.739G>A	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723441	0.89298	.	.	ENSG00000164438	ENST00000296921	D	0.92446	-3.04	4.06	4.06	0.47325	.	0.054564	0.64402	D	0.000001	D	0.93363	0.7884	M	0.85710	2.77	0.58432	D	0.999995	D	0.55385	0.971	P	0.46253	0.509	D	0.93836	0.7132	10	0.46703	T	0.11	.	15.8229	0.78673	0.0:0.0:1.0:0.0	.	247	O43711	TLX3_HUMAN	T	247	ENSP00000296921:A247T	ENSP00000296921:A247T	A	+	1	0	TLX3	170671071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.512000	0.81728	1.791000	0.52520	0.491000	0.48974	GCC		0.652	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			5	14	0	0	0	0	5	14				
TDP2	51567	broad.mit.edu	37	6	24658077	24658077	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:24658077G>A	ENST00000378198.4	-	4	650	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TDP2_ENST00000545995.1_Silent_p.Y190Y|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_Silent_p.Y102Y			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	160					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTTCTTTAGGTAGCTATAAT	0.299								Direct reversal of damage																														uc003nej.2		NA																	0				ovary(1)|lung(1)	2						c.(478-480)TAC>TAT	Direct_reversal_of_damage|Editing_and_processing_nucleases	TRAF and TNF receptor-associated protein							85.0	92.0	90.0					6																	24658077		2203	4297	6500	SO:0001819	synonymous_variant	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24658077G>A	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.480C>T	6.37:g.24658077G>A						TDP2_uc003nei.2_Silent_p.Y48Y|TDP2_uc010jpu.1_Silent_p.Y160Y	p.Y160Y	NM_016614	NP_057698	O95551	TYDP2_HUMAN			4	505	-			160					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Silent	SNP	ENST00000378198.4	37	c.480C>T	CCDS4557.1																																																																																				0.299	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			10	51	0	0	0	0	10	51				
DHX16	8449	broad.mit.edu	37	6	30624814	30624814	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:30624814T>A	ENST00000376442.3	-	13	2258	c.2063A>T	c.(2062-2064)tAt>tTt	p.Y688F	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_Missense_Mutation_p.Y207F	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	688	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ATCCAGCACATAAATGATGCC	0.542																																						uc003nqz.2		NA																	0				ovary(2)|kidney(2)	4						c.(2062-2064)TAT>TTT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							126.0	91.0	104.0					6																	30624814		1510	2709	4219	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30624814T>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2063A>T	6.37:g.30624814T>A	ENSP00000365625:p.Tyr688Phe					DHX16_uc003nqy.2_Missense_Mutation_p.Y207F|DHX16_uc011dmo.1_Missense_Mutation_p.Y628F	p.Y688F	NM_003587	NP_003578	O60231	DHX16_HUMAN			13	2275	-			688			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.2063A>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726333	0.69074	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.75154	-0.91;-0.91	5.03	5.03	0.67393	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.48642	1.525	0.80722	D	1	P;P;B	0.50369	0.579;0.934;0.172	B;P;B	0.55965	0.372;0.788;0.128	T	0.68930	-0.5279	10	0.28530	T	0.3	.	13.8788	0.63670	0.0:0.0:0.0:1.0	.	628;688;207	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	F	688;207	ENSP00000365625:Y688F;ENSP00000365620:Y207F	ENSP00000365620:Y207F	Y	-	2	0	DHX16	30732793	1.000000	0.71417	0.965000	0.40720	0.989000	0.77384	4.066000	0.57520	2.108000	0.64289	0.459000	0.35465	TAT		0.542	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		5	24	0	0	0	0	5	24				
ITPR3	3710	broad.mit.edu	37	6	33636358	33636358	+	Silent	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:33636358C>G	ENST00000374316.5	+	18	3013	c.1953C>G	c.(1951-1953)ctC>ctG	p.L651L	ITPR3_ENST00000605930.1_Silent_p.L651L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	651					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCAAGAGCTCATCTGCAAGT	0.617																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(1951-1953)CTC>CTG		inositol 1,4,5-triphosphate receptor, type 3							171.0	137.0	148.0					6																	33636358		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33636358C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1953C>G	6.37:g.33636358C>G							p.L651L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			17	2172	+			651			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.1953C>G	CCDS4783.1																																																																																				0.617	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		12	37	0	0	0	0	12	37				
TRERF1	55809	broad.mit.edu	37	6	42222641	42222641	+	Silent	SNP	C	C	T	rs143046982		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42222641C>T	ENST00000372922.4	-	13	3166	c.2604G>A	c.(2602-2604)ctG>ctA	p.L868L	TRERF1_ENST00000340840.2_Silent_p.L785L|TRERF1_ENST00000372917.4_Silent_p.L785L|TRERF1_ENST00000541110.1_Silent_p.L888L|TRERF1_ENST00000354325.2_Silent_p.L785L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	868	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCTTCCGCAGTAGCAGCA	0.522																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2602-2604)CTG>CTA		transcriptional regulating factor 1		C		1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		2604	2.5	1.0	6	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	TRERF1	NM_033502.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		868/1201	42222641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42222641C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2604G>A	6.37:g.42222641C>T						TRERF1_uc011duq.1_Silent_p.L785L|TRERF1_uc003osb.2_Silent_p.L624L|TRERF1_uc003osc.2_Silent_p.L624L|TRERF1_uc003ose.2_Silent_p.L888L	p.L868L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		13	3167	-	Colorectal(47;0.196)		868			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.2604G>A	CCDS4867.1																																																																																				0.522	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		12	31	0	0	0	0	12	31				
KLHDC3	116138	broad.mit.edu	37	6	42986153	42986153	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42986153C>T	ENST00000326974.4	+	6	787	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	KLHDC3_ENST00000244670.8_Missense_Mutation_p.R64C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R139C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGGGGGCCGTGCCGACCG	0.577																																						uc003otl.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(592-594)CGT>TGT		kelch domain containing 3							57.0	52.0	53.0					6																	42986153		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986153C>T	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.592C>T	6.37:g.42986153C>T	ENSP00000313995:p.Arg198Cys					KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.R174C|KLHDC3_uc003otn.2_Missense_Mutation_p.R82C|KLHDC3_uc003oto.2_Missense_Mutation_p.R139C	p.R198C	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	761	+			198			Kelch 4.		A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.592C>T	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714666	0.68730	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.67523	-0.27;-0.27;-0.27	5.64	5.64	0.86602	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	L	0.45698	1.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;1.0	T	0.74945	-0.3491	10	0.87932	D	0	.	14.4175	0.67160	0.1832:0.8168:0.0:0.0	.	198;139;64;198	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	C	198;198;64;198;171;139	ENSP00000313995:R198C;ENSP00000244670:R64C;ENSP00000331562:R139C	ENSP00000244670:R64C	R	+	1	0	KLHDC3	43094131	0.988000	0.35896	0.997000	0.53966	0.988000	0.76386	2.771000	0.47670	2.663000	0.90544	0.561000	0.74099	CGT		0.577	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		26	41	0	0	0	0	26	41				
MCM3	4172	broad.mit.edu	37	6	52141938	52141938	+	Silent	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:52141938T>A	ENST00000229854.7	-	8	1168	c.1092A>T	c.(1090-1092)cgA>cgT	p.R364R	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Silent_p.R318R|MCM3_ENST00000596288.1_Silent_p.R409R			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGGGGATAGCTCGGGGTGCAG	0.592																																						uc003pan.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1090-1092)CGA>CGT		minichromosome maintenance complex component 3							60.0	60.0	60.0					6																	52141938		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141938T>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1092A>T	6.37:g.52141938T>A						MCM3_uc011dwu.1_Silent_p.R318R	p.R364R	NM_002388	NP_002379	P25205	MCM3_HUMAN			8	1202	-	Lung NSC(77;0.0931)		364			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.1092A>T																																																																																					0.592	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			12	50	0	0	0	0	12	50				
COL19A1	1310	broad.mit.edu	37	6	70639472	70639472	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:70639472C>T	ENST00000322773.4	+	6	648	c.546C>T	c.(544-546)gtC>gtT	p.V182V		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	182	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						AATCCCAGGTCATTTCACTTT	0.418																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(544-546)GTC>GTT		alpha 1 type XIX collagen precursor							115.0	109.0	111.0					6																	70639472		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639472C>T		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.546C>T	6.37:g.70639472C>T						COL19A1_uc010kam.1_Silent_p.V78V	p.V182V	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	663	+			182			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.546C>T	CCDS4970.1																																																																																				0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			11	68	0	0	0	0	11	68				
FAM184A	79632	broad.mit.edu	37	6	119295660	119295660	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:119295660T>C	ENST00000338891.7	-	14	3291	c.2848A>G	c.(2848-2850)Atc>Gtc	p.I950V	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	950						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCCGCATGATATTTTTCTCT	0.338																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2848-2850)ATC>GTC		hypothetical protein LOC79632 isoform 1							257.0	246.0	249.0					6																	119295660		1811	4081	5892	SO:0001583	missense	79632							g.chr6:119295660T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2848A>G	6.37:g.119295660T>C	ENSP00000342604:p.Ile950Val					FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	p.I950V	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			14	3196	-			950					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2848A>G	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090519	0.36855	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.42900	2.56;0.96	5.4	2.86	0.33363	.	0.364091	0.30732	N	0.008991	T	0.18635	0.0447	L	0.50333	1.59	0.80722	D	1	B	0.28850	0.225	B	0.24541	0.054	T	0.03184	-1.1063	10	0.30078	T	0.28	-2.8002	12.182	0.54218	0.0:0.0:0.271:0.729	.	950	Q8NB25	F184A_HUMAN	V	113;950;11	ENSP00000342604:I950V;ENSP00000357457:I11V	ENSP00000342604:I950V	I	-	1	0	FAM184A	119337359	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.034000	0.49751	0.384000	0.24942	-0.446000	0.05623	ATC		0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		58	177	0	0	0	0	58	177				
CNKSR3	154043	broad.mit.edu	37	6	154831199	154831199	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:154831199C>G	ENST00000607772.1	-	1	594	c.50G>C	c.(49-51)aGa>aCa	p.R17T		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	17	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCGCGCACCTCTAGTCCAGTC	0.647																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(49-51)AGA>ACA		CNKSR family member 3							137.0	120.0	126.0					6																	154831199		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154831199C>G	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.50G>C	6.37:g.154831199C>G	ENSP00000475915:p.Arg17Thr						p.R17T	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	1	555	-		Ovarian(120;0.196)	17			SAM.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.50G>C	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.997112	0.54147	.	.	ENSG00000153721	ENST00000367213	T	0.51071	0.72	4.88	3.79	0.43588	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.346062	0.25692	N	0.028922	T	0.20659	0.0497	L	0.28458	0.855	0.80722	D	1	B	0.16396	0.017	B	0.19391	0.025	T	0.15407	-1.0438	10	0.62326	D	0.03	.	8.9971	0.36059	0.0:0.8786:0.0:0.1214	.	17	Q6P9H4	CNKR3_HUMAN	T	17	ENSP00000356182:R17T	ENSP00000356182:R17T	R	-	2	0	CNKSR3	154872891	0.968000	0.33430	0.971000	0.41717	0.942000	0.58702	1.103000	0.31062	2.221000	0.72209	0.457000	0.33378	AGA		0.647	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		21	126	0	0	0	0	21	126				
RPS6KA2	6196	broad.mit.edu	37	6	166944753	166944753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:166944753C>T	ENST00000265678.4	-	3	488	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.A114T|RPS6KA2_ENST00000366863.2_5'UTR|Z98049.1_ENST00000598601.1_5'Flank|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.A97T|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	89	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|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 cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCTTCATGGCGTAGAGCTGC	0.502																																						uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(265-267)GCC>ACC		ribosomal protein S6 kinase, 90kDa, polypeptide							104.0	110.0	108.0					6																	166944753		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166944753C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.265G>A	6.37:g.166944753C>T	ENSP00000265678:p.Ala89Thr					RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A97T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A114T	p.A89T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	3	484	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	89			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.265G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903245	0.72754	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000507371;ENST00000506565	T;T;T;T;T	0.77750	0.01;0.01;0.01;-1.12;-1.12	4.4	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	H	0.96080	3.765	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.938	D;P;B	0.65573	0.936;0.895;0.244	D	0.93052	0.6466	10	0.87932	D	0	.	16.0683	0.80903	0.0:1.0:0.0:0.0	.	114;97;89	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	T	89;114;97;73;114	ENSP00000265678:A89T;ENSP00000422435:A114T;ENSP00000427015:A97T;ENSP00000423114:A73T;ENSP00000425148:A114T	ENSP00000265678:A89T	A	-	1	0	RPS6KA2	166864743	1.000000	0.71417	0.689000	0.30133	0.226000	0.24999	6.675000	0.74493	2.440000	0.82611	0.563000	0.77884	GCC		0.502	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		17	85	0	0	0	0	17	85				
ASNS	440	broad.mit.edu	37	7	97498327	97498327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:97498327G>C	ENST00000394309.3	-	3	613	c.142C>G	c.(142-144)Cac>Gac	p.H48D	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.H48D|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.H48D|ASNS_ENST00000422745.1_Missense_Mutation_p.H27D|ASNS_ENST00000444334.1_Missense_Mutation_p.H27D	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	48	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCCAACCGGTGAAATCCAAAG	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	0				ovary(1)	1						c.(142-144)CAC>GAC		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						73.0	62.0	66.0					7																	97498327		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498327G>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.142C>G	7.37:g.97498327G>C	ENSP00000377846:p.His48Asp					ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.H48D|ASNS_uc003uov.3_Missense_Mutation_p.H48D|ASNS_uc011kio.1_Missense_Mutation_p.H27D|ASNS_uc003uow.3_Missense_Mutation_p.H27D|ASNS_uc003uox.3_Intron	p.H48D	NM_133436	NP_597680	P08243	ASNS_HUMAN			3	648	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		48			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.142C>G	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751014	0.69533	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.42513	0.98;0.98;0.98;0.98;0.98;0.97	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77710	-0.2486	10	0.72032	D	0.01	-18.191	13.4946	0.61416	0.0:0.0:1.0:0.0	.	48	P08243	ASNS_HUMAN	D	48;48;48;27;27;48;48;48;27	ENSP00000175506:H48D;ENSP00000377846:H48D;ENSP00000377845:H48D;ENSP00000414901:H27D;ENSP00000406994:H27D;ENSP00000400422:H48D	ENSP00000175506:H48D	H	-	1	0	ASNS	97336263	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	8.954000	0.93051	2.120000	0.65058	0.555000	0.69702	CAC		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		13	49	0	0	0	0	13	49				
LAMB4	22798	broad.mit.edu	37	7	107696162	107696162	+	Missense_Mutation	SNP	C	C	A	rs369035830		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696162C>A	ENST00000388781.3	-	25	3753	c.3670G>T	c.(3670-3672)Gtg>Ttg	p.V1224L	LAMB4_ENST00000388780.3_Missense_Mutation_p.V1224L|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1224L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1224	Domain II.				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						ATTTCAGACACGTTCCCTCTG	0.423																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3670-3672)GTG>TTG		laminin, beta 4 precursor							84.0	87.0	86.0					7																	107696162		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107696162C>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.3670G>T	7.37:g.107696162C>A	ENSP00000373433:p.Val1224Leu					LAMB4_uc003vey.2_Missense_Mutation_p.V1224L|LAMB4_uc010ljp.1_Missense_Mutation_p.V193L	p.V1224L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			25	3754	-			1224			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3670G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	0.201	-1.045121	0.01997	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32753	1.44;1.44;2.34;1.8	4.57	-5.4	0.02656	.	0.864247	0.09784	N	0.756253	T	0.09158	0.0226	N	0.08118	0	0.31878	N	0.618852	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42899	-0.9424	10	0.02654	T	1	.	3.592	0.07991	0.1026:0.3475:0.1049:0.445	.	1224;1224	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1224;1224;250;1224	ENSP00000205386:V1224L;ENSP00000373433:V1224L;ENSP00000416562:V250L;ENSP00000373432:V1224L	ENSP00000205386:V1224L	V	-	1	0	LAMB4	107483398	0.742000	0.28228	0.015000	0.15790	0.916000	0.54674	-0.471000	0.06631	-0.988000	0.03489	-1.110000	0.02074	GTG		0.423	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		16	62	1	0	6.32e-08	6.83e-08	16	62				
LAMB4	22798	broad.mit.edu	37	7	107696408	107696408	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696408G>A	ENST00000388781.3	-	25	3507	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1142S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1142S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1142	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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						CCTGTGTCTGGATCACAGATG	0.532																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3424-3426)CCA>TCA		laminin, beta 4 precursor							44.0	44.0	44.0					7																	107696408		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107696408G>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.3424C>T	7.37:g.107696408G>A	ENSP00000373433:p.Pro1142Ser					LAMB4_uc003vey.2_Missense_Mutation_p.P1142S|LAMB4_uc010ljp.1_Missense_Mutation_p.P111S	p.P1142S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			25	3508	-			1142			Laminin EGF-like 13.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3424C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181069	0.38511	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.60424	1.1;1.1;0.19;0.19	5.65	2.83	0.33086	EGF-like, laminin (3);	0.751573	0.11808	N	0.527483	T	0.42086	0.1187	L	0.33293	1	0.39025	D	0.959823	B;B	0.31503	0.209;0.326	B;B	0.29077	0.098;0.096	T	0.35001	-0.9806	10	0.56958	D	0.05	.	4.5009	0.11863	0.0739:0.1119:0.4002:0.414	.	1142;1142	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1142;1142;168;1142	ENSP00000205386:P1142S;ENSP00000373433:P1142S;ENSP00000416562:P168S;ENSP00000373432:P1142S	ENSP00000205386:P1142S	P	-	1	0	LAMB4	107483644	0.709000	0.27886	0.434000	0.26772	0.801000	0.45260	0.944000	0.29043	0.448000	0.26722	0.655000	0.94253	CCA		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		8	36	0	0	0	0	8	36				
FAM110B	90362	broad.mit.edu	37	8	59059573	59059573	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:59059573G>T	ENST00000361488.3	+	5	1664	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	262						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562																																						uc003xtj.1		NA																	0				large_intestine(1)	1						c.(784-786)GAC>TAC		hypothetical protein LOC90362							95.0	103.0	100.0					8																	59059573		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059573G>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.784G>T	8.37:g.59059573G>T	ENSP00000355204:p.Asp262Tyr						p.D262Y	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1664	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	262					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.784G>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972191	0.74246	.	.	ENSG00000169122	ENST00000361488	T	0.51071	0.72	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74728	-0.3567	9	.	.	.	-28.2133	19.4917	0.95052	0.0:0.0:1.0:0.0	.	262	Q8TC76	F110B_HUMAN	Y	262	ENSP00000355204:D262Y	.	D	+	1	0	FAM110B	59222127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.770000	0.98971	2.580000	0.87095	0.561000	0.74099	GAC		0.562	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		13	94	1	0	9.31e-06	9.95e-06	13	94				
MAPK15	225689	broad.mit.edu	37	8	144802878	144802878	+	Missense_Mutation	SNP	G	G	A	rs200749268		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:144802878G>A	ENST00000338033.4	+	9	904	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACAGGCCACGACAGACGCTG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16217	0.001		0.0	False		,,,				2504	0.0					uc003yzj.2		NA																	0				lung(2)	2						c.(784-786)CGA>CAA		mitogen-activated protein kinase 15							26.0	37.0	33.0					8																	144802878		2132	4253	6385	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144802878G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.785G>A	8.37:g.144802878G>A	ENSP00000337691:p.Arg262Gln						p.R262Q	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		9	826	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		262			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.785G>A	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	4.683	0.126934	0.08931	.	.	ENSG00000181085	ENST00000338033	T	0.43294	0.95	3.77	0.157	0.14915	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.428003	0.22651	N	0.057337	T	0.21921	0.0528	L	0.28608	0.87	0.19300	N	0.99997	B	0.32573	0.376	B	0.31101	0.124	T	0.10337	-1.0634	10	0.20046	T	0.44	-11.3219	3.8481	0.08943	0.1045:0.1481:0.5769:0.1706	.	262	Q8TD08	MK15_HUMAN	Q	262	ENSP00000337691:R262Q	ENSP00000337691:R262Q	R	+	2	0	MAPK15	144874866	0.956000	0.32656	0.013000	0.15412	0.044000	0.14063	0.425000	0.21346	0.190000	0.20209	0.467000	0.42956	CGA		0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		3	28	0	0	0	0	3	28				
EXOSC4	54512	broad.mit.edu	37	8	145135305	145135305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:145135305C>T	ENST00000316052.5	+	3	642	c.539C>T	c.(538-540)gCt>gTt	p.A180V	EXOSC4_ENST00000525936.1_Silent_p.S137S|GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	180					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGAAGCAGCTGGTGGCCCC	0.657																																						uc003zau.2		NA																	0					0						c.(538-540)GCT>GTT		exosome component 4							51.0	55.0	54.0					8																	145135305		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135305C>T	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.539C>T	8.37:g.145135305C>T	ENSP00000315476:p.Ala180Val					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.A180V	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	649	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		180						Missense_Mutation	SNP	ENST00000316052.5	37	c.539C>T	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391591	0.62066	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.39406	1.08;1.08	5.38	5.38	0.77491	Exoribonuclease, phosphorolytic domain 2 (2);	0.121991	0.56097	D	0.000039	T	0.44286	0.1286	M	0.79123	2.44	0.80722	D	1	B	0.28400	0.21	B	0.23275	0.045	T	0.38757	-0.9646	10	0.17369	T	0.5	-12.272	16.6096	0.84879	0.0:1.0:0.0:0.0	.	180	Q9NPD3	EXOS4_HUMAN	V	180;203	ENSP00000315476:A180V;ENSP00000436539:A203V	ENSP00000315476:A180V	A	+	2	0	EXOSC4	145207293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.524000	0.67105	2.531000	0.85337	0.561000	0.74099	GCT		0.657	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		7	64	0	0	0	0	7	64				
SMARCA2	6595	broad.mit.edu	37	9	2086833	2086833	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:2086833G>A	ENST00000382203.1	+	18	2740	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R844Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	844	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTATAGATTCGGTGGAAATAC	0.468																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2530-2532)CGG>CAG		SWI/SNF-related matrix-associated							81.0	78.0	79.0					9																	2086833		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2086833G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2531G>A	9.37:g.2086833G>A	ENSP00000371638:p.Arg844Gln					SMARCA2_uc003zhd.2_Missense_Mutation_p.R844Q|SMARCA2_uc010mha.2_Missense_Mutation_p.R835Q	p.R844Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	18	2630	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	844			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2531G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788242	0.90367	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	N	0.11756	0.17	0.80722	D	1	B;D;D	0.71674	0.35;0.998;0.998	B;D;D	0.79108	0.21;0.986;0.992	D	0.91947	0.5568	10	0.25751	T	0.34	-25.0753	20.0637	0.97700	0.0:0.0:1.0:0.0	.	445;844;844	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	Q	844	ENSP00000265773:R844Q;ENSP00000349788:R844Q;ENSP00000371638:R844Q;ENSP00000371629:R844Q	ENSP00000265773:R844Q	R	+	2	0	SMARCA2	2076833	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.798000	0.99111	2.751000	0.94390	0.650000	0.86243	CGG		0.468	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		15	56	0	0	0	0	15	56				
ZCCHC6	79670	broad.mit.edu	37	9	88925620	88925620	+	Splice_Site	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:88925620C>T	ENST00000375963.3	-	18	3551		c.e18+1		ZCCHC6_ENST00000375957.1_Splice_Site|ZCCHC6_ENST00000375961.2_Splice_Site|ZCCHC6_ENST00000375960.2_Splice_Site|ZCCHC6_ENST00000277141.6_Splice_Site	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAAATCTTACCAATGTGTTA	0.353																																						uc004aoq.2		NA																	0				ovary(2)	2						c.e18+1		zinc finger, CCHC domain containing 6							81.0	75.0	77.0					9																	88925620		2203	4300	6503	SO:0001630	splice_region_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88925620C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3378+1G>A	9.37:g.88925620C>T						ZCCHC6_uc010mqe.2_Splice_Site_p.L64_splice|ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_Splice_Site|ZCCHC6_uc004aos.2_Splice_Site|ZCCHC6_uc004aot.2_Splice_Site_p.L890_splice|ZCCHC6_uc004aou.2_Splice_Site_p.L1126_splice	p.L1126_splice	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			18	3593	-								Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Splice_Site	SNP	ENST00000375963.3	37	c.3378_splice	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278299	0.80692	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC6	88115440	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.265000	0.78442	2.857000	0.98124	0.650000	0.86243	.		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	Intron	4	21	0	0	0	0	4	21				
NUTM2F	54754	broad.mit.edu	37	9	97080990	97080990	+	Silent	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:97080990A>T	ENST00000253262.4	-	7	2048	c.2028T>A	c.(2026-2028)ctT>ctA	p.L676L	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Silent_p.L661L	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	676																	ATGGAGACTGAAGAGCTCCCT	0.612																																						uc004aup.1		NA																	0					0						c.(2026-2028)CTT>CTA		hypothetical protein LOC54754							62.0	49.0	53.0					9																	97080990		1883	4094	5977	SO:0001819	synonymous_variant	54754							g.chr9:97080990A>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2028T>A	9.37:g.97080990A>T							p.L676L	NM_017561	NP_060031	A1L443	FA22F_HUMAN			7	2049	-		Acute lymphoblastic leukemia(62;0.136)	676					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.2028T>A	CCDS47994.1																																																																																				0.612	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		5	15	0	0	0	0	5	15				
PLPPR1	54886	broad.mit.edu	37	9	104071492	104071492	+	Splice_Site	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071492G>T	ENST00000374874.3	+	5	824		c.e5-1		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN							nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TCTTCTTATAGGGGTGTTTGC	0.413																																						uc004bbb.2		NA																	0					0						c.e5-1		plasticity related gene 3							148.0	141.0	143.0					9																	104071492		2203	4300	6503	SO:0001630	splice_region_variant	54886					integral to membrane	catalytic activity	g.chr9:104071492G>T																												ENST00000374874.3:c.386-1G>T	9.37:g.104071492G>T						LPPR1_uc011lvi.1_Splice_Site_p.G105_splice|LPPR1_uc004bbc.2_Splice_Site_p.G129_splice|LPPR1_uc010mtc.2_Splice_Site_p.G113_splice	p.G129_splice	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			5	785	+								Q5VX23|Q9NXE2	Splice_Site	SNP	ENST00000374874.3	37	c.386_splice	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395071	0.83011	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3395	0.90300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-35N6.1	103111313	1.000000	0.71417	0.823000	0.32752	0.996000	0.88848	9.420000	0.97426	2.660000	0.90430	0.591000	0.81541	.		0.413	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1		Intron	11	99	1	0	6.4e-05	6.75e-05	11	99				
PLPPR1	54886	broad.mit.edu	37	9	104071519	104071519	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071519A>T	ENST00000374874.3	+	5	851	c.412A>T	c.(412-414)Act>Tct	p.T138S	LPPR1_ENST00000395056.2_Missense_Mutation_p.T138S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		138					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ACTTTTTGCTACTGACATTTT	0.418																																						uc004bbb.2		NA																	0					0						c.(412-414)ACT>TCT		plasticity related gene 3							174.0	161.0	166.0					9																	104071519		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104071519A>T																												ENST00000374874.3:c.412A>T	9.37:g.104071519A>T	ENSP00000364008:p.Thr138Ser					LPPR1_uc011lvi.1_Missense_Mutation_p.T114S|LPPR1_uc004bbc.2_Missense_Mutation_p.T138S|LPPR1_uc010mtc.2_Missense_Mutation_p.T122S	p.T138S	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			5	811	+			138			Helical; (Potential).		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.412A>T	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325165	0.81580	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.50548	0.74;0.74	5.32	5.32	0.75619	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.052262	0.85682	D	0.000000	T	0.55924	0.1951	L	0.52364	1.645	0.52501	D	0.999959	P;B	0.50156	0.932;0.399	P;B	0.57283	0.817;0.096	T	0.49133	-0.8971	10	0.17369	T	0.5	-46.013	14.7458	0.69490	1.0:0.0:0.0:0.0	.	122;138	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	S	138	ENSP00000364008:T138S;ENSP00000378496:T138S	ENSP00000364005:T138S	T	+	1	0	RP11-35N6.1	103111340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.998000	0.76277	2.148000	0.66965	0.482000	0.46254	ACT		0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			13	92	0	0	0	0	13	92				
OR1N1	138883	broad.mit.edu	37	9	125289435	125289435	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:125289435G>A	ENST00000304880.2	-	1	137	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	46						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)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAGCCAATGGCCAGGATGA	0.502																																						uc004bmn.1		NA																	0				upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						c.(136-138)GCC>GCT		olfactory receptor, family 1, subfamily N,							78.0	76.0	76.0					9																	125289435		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289435G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.138C>T	9.37:g.125289435G>A							p.A46A	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			1	138	-			46			Helical; Name=1; (Potential).		A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.138C>T	CCDS6844.1																																																																																				0.502	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			5	36	0	0	0	0	5	36				
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	145						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627																																						uc004cdi.2		NA																	0					0						c.(433-435)CGC>TGC		surfeit 2							71.0	67.0	68.0					9																	136226921		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136226921C>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.433C>T	9.37:g.136226921C>T	ENSP00000361032:p.Arg145Cys						p.R145C	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	481	+			145					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.433C>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538857	0.45176	.	.	ENSG00000148291	ENST00000371964	T	0.32023	1.47	5.28	-0.581	0.11713	.	1.180580	0.05943	N	0.637350	T	0.29355	0.0731	L	0.46157	1.445	0.09310	N	1	B	0.24675	0.109	B	0.12837	0.008	T	0.34527	-0.9825	10	0.59425	D	0.04	-7.4336	12.1792	0.54202	0.1592:0.6467:0.1941:0.0	.	145	Q15527	SURF2_HUMAN	C	145	ENSP00000361032:R145C	ENSP00000361032:R145C	R	+	1	0	SURF2	135216742	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.227000	0.09126	-0.753000	0.04721	-2.048000	0.00412	CGC		0.627	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		4	15	0	0	0	0	4	15				
NOTCH1	4851	broad.mit.edu	37	9	139401405	139401405	+	Missense_Mutation	SNP	C	C	T	rs112900950		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:139401405C>T	ENST00000277541.6	-	23	3739	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1222	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTCGTCCACGTTGATCTCA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3664-3666)GTG>ATG		notch1 preproprotein							12.0	15.0	14.0					9																	139401405		2022	4167	6189	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401405C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3664G>A	9.37:g.139401405C>T	ENSP00000277541:p.Val1222Met	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.V452M	p.V1222M	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3664	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1222			Extracellular (Potential).|EGF-like 32; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3664G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340037	0.24339	.	.	ENSG00000148400	ENST00000277541	D	0.87650	-2.28	5.23	2.4	0.29515	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.260386	0.36002	N	0.002857	T	0.81264	0.4786	L	0.43152	1.355	0.46849	D	0.999224	B	0.15719	0.014	B	0.19946	0.027	T	0.73219	-0.4052	10	0.54805	T	0.06	.	9.4627	0.38794	0.0:0.7703:0.0:0.2297	.	1222	P46531	NOTC1_HUMAN	M	1222	ENSP00000277541:V1222M	ENSP00000277541:V1222M	V	-	1	0	NOTCH1	138521226	0.749000	0.28305	0.849000	0.33467	0.077000	0.17291	0.091000	0.15046	0.226000	0.20979	0.655000	0.94253	GTG		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	13	0	0	0	0	4	13				
DMD	1756	broad.mit.edu	37	X	32613911	32613911	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:32613911C>G	ENST00000357033.4	-	13	1771	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	DMD_ENST00000288447.4_Missense_Mutation_p.G514A|DMD_ENST00000378677.2_Missense_Mutation_p.G518A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	522			Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCGTGATCTCCACTAGATTC	0.353																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1564-1566)GGA>GCA		dystrophin Dp427m isoform							161.0	129.0	140.0					X																	32613911		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32613911C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1565G>C	X.37:g.32613911C>G	ENSP00000354923:p.Gly522Ala					DMD_uc004dcz.2_Missense_Mutation_p.G399A|DMD_uc004dcy.1_Missense_Mutation_p.G518A|DMD_uc004ddb.1_Missense_Mutation_p.G514A|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G514A|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	p.G522A	NM_004006	NP_003997	P11532	DMD_HUMAN			13	1809	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	522		Missing (in BMD).	Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1565G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477887	0.84747	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.54675	0.56;0.56;0.56	5.74	5.74	0.90152	.	0.000000	0.36555	U	0.002521	T	0.69762	0.3147	L	0.58969	1.84	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.998;0.992;0.999	T	0.68187	-0.5475	10	0.41790	T	0.15	.	17.5048	0.87742	0.0:1.0:0.0:0.0	.	514;514;522;518	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	A	514;518;522;522;399;514	ENSP00000367948:G518A;ENSP00000354923:G522A;ENSP00000288447:G514A	ENSP00000288447:G514A	G	-	2	0	DMD	32523832	1.000000	0.71417	0.755000	0.31263	0.974000	0.67602	5.414000	0.66405	2.404000	0.81709	0.538000	0.68166	GGA		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	23	0	0	0	0	7	23				
C1GALT1C1	29071	broad.mit.edu	37	X	119760090	119760090	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:119760090G>A	ENST00000304661.5	-	2	1170	c.932C>T	c.(931-933)cCt>cTt	p.P311L	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.P311L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	311					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ACCATTTGGAGGTAAGAAAAC	0.378																																						uc004esy.2		NA																	0					0						c.(931-933)CCT>CTT		C1GALT1-specific chaperone 1							105.0	86.0	92.0					X																	119760090		2203	4299	6502	SO:0001583	missense	29071					integral to membrane		g.chrX:119760090G>A	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.932C>T	X.37:g.119760090G>A	ENSP00000304364:p.Pro311Leu					C1GALT1C1_uc004esz.2_Missense_Mutation_p.P311L	p.P311L	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN			3	1279	-			311			Lumenal (Potential).		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.932C>T	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934223	0.73442	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.50548	0.74;0.74	5.46	5.46	0.80206	.	0.054481	0.85682	D	0.000000	T	0.70815	0.3267	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73056	-0.4103	9	.	.	.	-13.9202	17.3879	0.87422	0.0:0.0:1.0:0.0	.	311	Q96EU7	C1GLC_HUMAN	L	311	ENSP00000304364:P311L;ENSP00000360363:P311L	.	P	-	2	0	C1GALT1C1	119644118	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.406000	0.81754	0.544000	0.68410	CCT		0.378	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		16	34	0	0	0	0	16	34				
MBD6	114785	broad.mit.edu	37	12	57920022	57920022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:57920022delC	ENST00000355673.3	+	6	1627	c.1271delC	c.(1270-1272)tccfs	p.S424fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.S424fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	424	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGCCCTTCCCACTCTGAT	0.627																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1270-1272)TCCfs		methyl-CpG binding domain protein 6							80.0	91.0	87.0					12																	57920022		2203	4300	6503	SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920022delC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1271delC	12.37:g.57920022delC	ENSP00000347896:p.Ser424fs					MBD6_uc001sok.1_Frame_Shift_Del_p.S291fs|MBD6_uc001sol.1_5'Flank	p.S424fs	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	1495	+			424			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.1271delC	CCDS8944.1																																																																																				0.627	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			12	102	NA	NA	NA	NA	12	102	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187557335	187557336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:187557335_187557336insA	ENST00000441802.2	-	6	4235_4236	c.4026_4027insT	c.(4024-4029)catattfs	p.I1343fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1343	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCATTCAATATGGAGTCTGG	0.436										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4024-4029)CATATTfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557335_187557336insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4027dupT	4.37:g.187557336_187557336dupA	ENSP00000406229:p.Ile1343fs	HNSCC(5;0.00058)					p.H1342fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			6	4214_4215	-			1342_1343			Extracellular (Potential).|Cadherin 11.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.4026_4027insT	CCDS47177.1																																																																																				0.436	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	40	NA	NA	NA	NA	8	40	---	---	---	---
