#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
NPHP4	261734	broad.mit.edu	37	1	5935081	5935081	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:5935081C>A	ENST00000378156.4	-	21	3162	c.2897G>T	c.(2896-2898)aGc>aTc	p.S966I	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	966					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCGATGCTCTCGGCCTT	0.642																																						uc001alq.1		NA																	0				pancreas(1)	1						c.(2896-2898)AGC>ATC		nephroretinin							74.0	91.0	85.0					1																	5935081		2195	4280	6475	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5935081C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2897G>T	1.37:g.5935081C>A	ENSP00000367398:p.Ser966Ile						p.S966I	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	21	3163	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	966					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2897G>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	5.375	0.254475	0.10185	.	.	ENSG00000131697	ENST00000378156	D	0.87334	-2.24	4.88	1.9	0.25705	.	0.893093	0.09864	N	0.745764	T	0.80581	0.4650	L	0.44542	1.39	0.23043	N	0.998382	B	0.33919	0.432	B	0.29077	0.098	T	0.65100	-0.6250	10	0.33141	T	0.24	.	9.8119	0.40828	0.0:0.7679:0.0:0.2321	.	966	O75161	NPHP4_HUMAN	I	966	ENSP00000367398:S966I	ENSP00000367398:S966I	S	-	2	0	NPHP4	5857668	0.975000	0.34042	0.397000	0.26308	0.102000	0.19082	0.572000	0.23684	0.466000	0.27193	0.550000	0.68814	AGC		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	27	1	0	1.24e-05	1.31e-05	4	27				
EXOSC10	5394	broad.mit.edu	37	1	11151235	11151235	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:11151235G>A	ENST00000376936.4	-	5	528	c.479C>T	c.(478-480)gCa>gTa	p.A160V	EXOSC10_ENST00000544779.1_Splice_Site_p.A160V|EXOSC10_ENST00000304457.7_Splice_Site_p.A160V	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	160					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATATTCTGCTGCCTATGATCA	0.353																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(478-480)GCA>GTA		exosome component 10 isoform 1							126.0	124.0	125.0					1																	11151235		2203	4300	6503	SO:0001630	splice_region_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151235G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.478-1C>T	1.37:g.11151235G>A						EXOSC10_uc001asb.2_Missense_Mutation_p.A160V|EXOSC10_uc009vmy.1_Missense_Mutation_p.A160V	p.A160V	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	5	529	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	160					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.479C>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142011	0.77775	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.76	5.76	0.90799	.	0.106561	0.64402	D	0.000005	T	0.60274	0.2256	L	0.47716	1.5	0.58432	D	0.999996	B;B	0.24186	0.099;0.06	B;B	0.28916	0.096;0.034	T	0.54070	-0.8348	9	0.32370	T	0.25	-23.2798	18.9641	0.92689	0.0:0.0:1.0:0.0	.	160;160	Q01780-2;Q01780	.;EXOSX_HUMAN	V	160	.	ENSP00000307307:A160V	A	-	2	0	EXOSC10	11073822	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.312000	0.43726	2.713000	0.92767	0.655000	0.94253	GCA		0.353	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	Missense_Mutation	14	67	0	0	0	0	14	67				
MFN2	9927	broad.mit.edu	37	1	12056346	12056346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:12056346G>A	ENST00000235329.5	+	5	767	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MFN2_ENST00000444836.1_Missense_Mutation_p.E149K	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	149	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTCCTTACCGAGGGCTCAGA	0.602																																						uc001atn.3		NA																	0				ovary(1)	1						c.(445-447)GAG>AAG		mitofusin 2							86.0	79.0	82.0					1																	12056346		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12056346G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.445G>A	1.37:g.12056346G>A	ENSP00000235329:p.Glu149Lys					MFN2_uc009vni.2_Missense_Mutation_p.E149K	p.E149K	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	5	898	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	149			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.445G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652263	0.88056	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.97041	-4.22;-4.22	5.34	5.34	0.76211	Dynamin, GTPase domain (1);	0.053931	0.85682	D	0.000000	D	0.94761	0.8309	L	0.45137	1.4	0.80722	D	1	P	0.36199	0.543	B	0.35859	0.212	D	0.93608	0.6936	10	0.21014	T	0.42	-20.8868	18.381	0.90451	0.0:0.0:1.0:0.0	.	149	O95140	MFN2_HUMAN	K	149	ENSP00000416338:E149K;ENSP00000235329:E149K	ENSP00000235329:E149K	E	+	1	0	MFN2	11978933	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	9.420000	0.97426	2.645000	0.89757	0.655000	0.94253	GAG		0.602	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		6	44	0	0	0	0	6	44				
GJB5	2709	broad.mit.edu	37	1	35223201	35223201	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:35223201C>T	ENST00000338513.1	+	2	443	c.270C>T	c.(268-270)ctC>ctT	p.L90L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	90					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617																																						uc001bxu.2		NA																	0				ovary(1)	1						c.(268-270)CTC>CTT		gap junction protein, beta 5, 31.1kDa							98.0	94.0	95.0					1																	35223201		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223201C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.270C>T	1.37:g.35223201C>T						GJB4_uc001bxv.1_5'Flank	p.L90L	NM_005268	NP_005259	O95377	CXB5_HUMAN			2	370	+		Myeloproliferative disorder(586;0.0393)	90			Helical; (Potential).		Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.270C>T	CCDS382.1																																																																																				0.617	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		17	69	0	0	0	0	17	69				
LMO4	8543	broad.mit.edu	37	1	87805751	87805751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:87805751C>T	ENST00000370544.5	+	4	1135	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LMO4_ENST00000370542.1_Missense_Mutation_p.R119W|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	119	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTCTACCTGCCGGAATCGCCT	0.393																																						uc001dmi.2		NA																	0					0						c.(355-357)CGG>TGG		LIM domain only 4							168.0	160.0	163.0					1																	87805751		2203	4300	6503	SO:0001583	missense	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87805751C>T	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.355C>T	1.37:g.87805751C>T	ENSP00000359575:p.Arg119Trp					LMO4_uc001dmj.2_Missense_Mutation_p.R119W	p.R119W	NM_006769	NP_006760	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	4	1135	+		Lung NSC(277;0.179)	119			LIM zinc-binding 2.		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.355C>T	CCDS713.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333325	0.81801	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.87966	-2.32;-2.32	5.71	5.71	0.89125	Zinc finger, LIM-type (5);	0.051532	0.85682	D	0.000000	D	0.93514	0.7930	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.93281	0.6660	10	0.72032	D	0.01	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	119	P61968	LMO4_HUMAN	W	119	ENSP00000359575:R119W;ENSP00000359573:R119W	ENSP00000359573:R119W	R	+	1	2	LMO4	87578339	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	CGG		0.393	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		25	113	0	0	0	0	25	113				
PKN2	5586	broad.mit.edu	37	1	89279371	89279371	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:89279371T>C	ENST00000370521.3	+	16	2593	c.2234T>C	c.(2233-2235)cTa>cCa	p.L745P	PKN2_ENST00000370505.3_Missense_Mutation_p.L588P|PKN2_ENST00000370513.5_Missense_Mutation_p.L697P|PKN2_ENST00000544045.1_Missense_Mutation_p.L419P	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGGGGACCTAATGATGCAC	0.408																																						uc001dmn.2		NA																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(2233-2235)CTA>CCA		protein kinase N2							221.0	202.0	208.0					1																	89279371		1921	4148	6069	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279371T>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2234T>C	1.37:g.89279371T>C	ENSP00000359552:p.Leu745Pro					PKN2_uc010osp.1_Missense_Mutation_p.L729P|PKN2_uc010osq.1_Missense_Mutation_p.L588P|PKN2_uc009wcv.2_Missense_Mutation_p.L697P|PKN2_uc010osr.1_Missense_Mutation_p.L410P	p.L745P	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2576	+		Lung NSC(277;0.123)	745			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2234T>C	CCDS714.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240035	0.79912	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.41	5.41	0.78517	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	0.35407	U	0.003226	D	0.85396	0.5687	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.91295	0.5062	10	0.87932	D	0	.	15.4365	0.75152	0.0:0.0:0.0:1.0	.	729;697;745	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	P	745;588;697;419	ENSP00000359552:L745P;ENSP00000359536:L588P;ENSP00000359544:L697P;ENSP00000439643:L419P	ENSP00000359536:L588P	L	+	2	0	PKN2	89051959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.068000	0.61886	0.528000	0.53228	CTA		0.408	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		3	176	0	0	0	0	3	176				
ABCA4	24	broad.mit.edu	37	1	94505666	94505666	+	Silent	SNP	C	C	T	rs387906388		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:94505666C>T	ENST00000370225.3	-	24	3626	c.3540G>A	c.(3538-3540)tcG>tcA	p.S1180S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1180					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AACCCTTAGACGAGCAGCTGC	0.572											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3538-3540)TCG>TCA		ATP-binding cassette, sub-family A member 4							119.0	93.0	102.0					1																	94505666		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94505666C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3540G>A	1.37:g.94505666C>T			OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1306		p.S1180S	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	24	3644	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1180			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3540G>A	CCDS747.1																																																																																				0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	12	0	0	0	0	5	12				
PLPPR4	9890	broad.mit.edu	37	1	99771596	99771596	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:99771596C>T	ENST00000370185.3	+	7	1819	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	LPPR4_ENST00000370184.1_Missense_Mutation_p.S283F|LPPR4_ENST00000457765.1_Missense_Mutation_p.S383F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498																																						uc001dse.2		NA																	0				ovary(3)	3						c.(1321-1323)TCC>TTC		plasticity related gene 1							70.0	70.0	70.0					1																	99771596		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771596C>T																												ENST00000370185.3:c.1322C>T	1.37:g.99771596C>T	ENSP00000359204:p.Ser441Phe					LPPR4_uc010oue.1_Missense_Mutation_p.S383F	p.S441F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1428	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	441					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1322C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518031	0.64634	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.31247	2.06;1.99;1.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.83275	0.996;0.887	T	0.15809	-1.0424	9	.	.	.	-19.2376	19.3904	0.94578	0.0:1.0:0.0:0.0	.	383;441	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	F	441;383;441;283	ENSP00000359204:S441F;ENSP00000394913:S383F;ENSP00000359203:S283F	.	S	+	2	0	RP4-788L13.1	99544184	1.000000	0.71417	0.971000	0.41717	0.717000	0.41224	7.405000	0.80007	2.575000	0.86900	0.650000	0.86243	TCC		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			18	75	0	0	0	0	18	75				
ADORA3	140	broad.mit.edu	37	1	112031442	112031442	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:112031442G>A	ENST00000369716.4	-	3	795	c.662C>T	c.(661-663)aCt>aTt	p.T221I	ADORA3_ENST00000369717.4_Missense_Mutation_p.T140I|RNU6-792P_ENST00000363490.1_RNA	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GCAGGACATAGTGACAATGAG	0.532																																						uc001ebf.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(661-663)ACT>ATT		adenosine A3 receptor isoform 1	Adenosine(DB00640)|Aminophylline(DB01223)						152.0	129.0	137.0					1																	112031442		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112031442G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.662C>T	1.37:g.112031442G>A	ENSP00000358730:p.Thr221Ile					ADORA3_uc001ebg.3_Missense_Mutation_p.T140I	p.T221I	NM_020683	NP_065734	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	3	1429	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	Error:Variant_position_missing_in_P33765_after_alignment					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	c.662C>T	CCDS838.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621422	0.46736	.	.	ENSG00000121933	ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498	T;T;T	0.04809	3.55;3.55;3.55	5.25	5.25	0.73442	.	0.000000	0.52532	D	0.000072	T	0.14830	0.0358	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00211	-1.1915	10	0.87932	D	0	-20.7264	14.3738	0.66860	0.0:0.0:1.0:0.0	.	140;221	Q5QNY7;P33765-2	.;.	I	140;221;52;46	ENSP00000358731:T140I;ENSP00000358730:T221I;ENSP00000398770:T46I	ENSP00000347612:T52I	T	-	2	0	ADORA3	111832965	0.990000	0.36364	0.981000	0.43875	0.615000	0.37417	2.601000	0.46249	2.443000	0.82685	0.462000	0.41574	ACT		0.532	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		12	36	0	0	0	0	12	36				
MAN1A2	10905	broad.mit.edu	37	1	117984891	117984891	+	Silent	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:117984891C>G	ENST00000356554.3	+	6	1629	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	298					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CTGAGAAACTCCTTCCTGCCT	0.343																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NA																	0					0						c.(892-894)CTC>CTG		mannosidase, alpha, class 1A, member 2							116.0	116.0	116.0					1																	117984891		2203	4300	6503	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117984891C>G	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.894C>G	1.37:g.117984891C>G						MAN1A2_uc009whg.1_Silent_p.L88L	p.L298L	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	6	1615	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	298			Lumenal (Potential).		Q9H510	Silent	SNP	ENST00000356554.3	37	c.894C>G	CCDS895.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092896	0.20471	.	.	ENSG00000198162	ENST00000449370	.	.	.	5.82	1.9	0.25705	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	-4.7329	7.1103	0.25386	0.0:0.6505:0.0:0.3495	.	.	.	.	C	31	.	.	S	+	2	0	MAN1A2	117786414	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	-0.110000	0.10824	0.378000	0.24764	0.591000	0.81541	TCC		0.343	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		14	97	0	0	0	0	14	97				
NBPF10	100132406	broad.mit.edu	37	1	145323663	145323663	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:145323663A>G	ENST00000342960.5	+	27	3535	c.3500A>G	c.(3499-3501)aAg>aGg	p.K1167R	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	754						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAATTAAAAAGGACGAAGAA	0.463																																						uc001end.3		NA																	0					0						c.(3724-3726)AAG>AGG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145323663A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3500A>G	1.37:g.145323663A>G	ENSP00000345684:p.Lys1167Arg					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_5'Flank	p.K1242R	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	29	3760	+	all_hematologic(923;0.032)		1167					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3725A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.645134	0.29246	.	.	ENSG00000163386	ENST00000342960	T	0.03242	4.0	.	.	.	.	.	.	.	.	T	0.02610	0.0079	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.41805	-0.9488	5	0.37606	T	0.19	.	.	.	.	.	.	.	.	R	1167	ENSP00000345684:K1167R	ENSP00000345684:K1167R	K	+	2	0	NBPF10	144035020	0.042000	0.20092	0.003000	0.11579	0.109000	0.19521	0.130000	0.15850	0.386000	0.24997	0.128000	0.15822	AAG		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	772	0	0	0	0	6	772				
FLG2	388698	broad.mit.edu	37	1	152331346	152331346	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:152331346C>G	ENST00000388718.5	-	2	87	c.15G>C	c.(13-15)ttG>ttC	p.L5F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	5	S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACACTTCTCAAGAGGTCGG	0.393																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(13-15)TTG>TTC		filaggrin family member 2							93.0	87.0	89.0					1																	152331346		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152331346C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.15G>C	1.37:g.152331346C>G	ENSP00000373370:p.Leu5Phe					uc001ezv.2_Intron	p.L5F	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	88	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		5			S-100-like (By similarity).		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.15G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660677	0.47572	.	.	ENSG00000143520	ENST00000388718	T	0.11495	2.77	5.26	0.854	0.19007	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.18425	0.0442	M	0.85099	2.735	0.29663	N	0.843033	D	0.89917	1.0	D	0.87578	0.998	T	0.02202	-1.1196	9	0.72032	D	0.01	-8.0782	7.0399	0.25015	0.0:0.5221:0.0:0.4779	.	5	Q5D862	FILA2_HUMAN	F	5	ENSP00000373370:L5F	ENSP00000373370:L5F	L	-	3	2	FLG2	150597970	0.276000	0.24211	0.854000	0.33618	0.961000	0.63080	0.136000	0.15974	-0.042000	0.13535	0.650000	0.86243	TTG		0.393	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		13	62	0	0	0	0	13	62				
NUP210L	91181	broad.mit.edu	37	1	154029395	154029395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154029395C>G	ENST00000368559.3	-	23	3207	c.3136G>C	c.(3136-3138)Gaa>Caa	p.E1046Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1046Q|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1046					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAATTTTCAGAGTATTCG	0.418																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3136-3138)GAA>CAA		nucleoporin 210kDa-like isoform 1							141.0	127.0	131.0					1																	154029395		1853	4103	5956	SO:0001583	missense	91181					integral to membrane		g.chr1:154029395C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3136G>C	1.37:g.154029395C>G	ENSP00000357547:p.Glu1046Gln					NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.E1046Q	p.E1046Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		23	3208	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1046					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3136G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817854	0.32145	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06294	3.58;3.32	4.95	4.95	0.65309	.	0.199099	0.35349	N	0.003279	T	0.02455	0.0075	L	0.46157	1.445	0.29744	N	0.836859	B;B	0.20887	0.049;0.028	B;B	0.15052	0.012;0.012	T	0.37244	-0.9714	10	0.17832	T	0.49	-29.7093	13.0825	0.59121	0.0:0.8386:0.1614:0.0	.	1046;1046	E7EP56;Q5VU65	.;P210L_HUMAN	Q	1046	ENSP00000357547:E1046Q;ENSP00000271854:E1046Q	ENSP00000271854:E1046Q	E	-	1	0	NUP210L	152296019	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.040000	0.41203	2.562000	0.86427	0.650000	0.86243	GAA		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		11	48	0	0	0	0	11	48				
UBE2Q1	55585	broad.mit.edu	37	1	154525286	154525286	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154525286G>C	ENST00000292211.4	-	6	819	c.740C>G	c.(739-741)tCt>tGt	p.S247C	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	247					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	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)			CACCGAGCCAGACACTGCACC	0.562																																						uc001fff.1		NA																	0					0						c.(739-741)TCT>TGT		ubiquitin-conjugating enzyme E2Q							53.0	56.0	55.0					1																	154525286		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154525286G>C	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.740C>G	1.37:g.154525286G>C	ENSP00000292211:p.Ser247Cys						p.S247C	NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	831	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		247					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.740C>G	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536207	0.85812	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	5.18	0.71444	.	0.060255	0.64402	D	0.000002	T	0.52224	0.1721	M	0.67397	2.05	0.58432	D	0.999994	B	0.28801	0.223	B	0.28709	0.093	T	0.57353	-0.7826	9	0.52906	T	0.07	-0.4285	17.4393	0.87561	0.0:0.0:1.0:0.0	.	247	Q7Z7E8	UB2Q1_HUMAN	C	247	.	ENSP00000292211:S247C	S	-	2	0	UBE2Q1	152791910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.419000	0.97397	2.701000	0.92244	0.563000	0.77884	TCT		0.562	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		9	50	0	0	0	0	9	50				
RXRG	6258	broad.mit.edu	37	1	165398095	165398095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:165398095G>C	ENST00000359842.5	-	2	460	c.158C>G	c.(157-159)cCa>cGa	p.P53R		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	53	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CAGAGTCCGTGGGGCACTCAC	0.617																																						uc001gda.2		NA																	0					0						c.(157-159)CCA>CGA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						62.0	59.0	60.0					1																	165398095		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398095G>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.158C>G	1.37:g.165398095G>C	ENSP00000352900:p.Pro53Arg						p.P53R	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	458	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		53			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.158C>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446843	0.63178	.	.	ENSG00000143171	ENST00000359842	D	0.92299	-3.01	4.71	4.71	0.59529	.	0.125321	0.36665	N	0.002476	D	0.87257	0.6132	L	0.50333	1.59	0.44843	D	0.997853	P	0.43542	0.81	B	0.40375	0.327	D	0.90044	0.4144	9	0.66056	D	0.02	.	16.4144	0.83729	0.0:0.0:1.0:0.0	.	53	P48443	RXRG_HUMAN	R	53	ENSP00000352900:P53R	ENSP00000352900:P53R	P	-	2	0	RXRG	163664719	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.641000	0.83368	2.436000	0.82500	0.561000	0.74099	CCA		0.617	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		9	31	0	0	0	0	9	31				
LHX4	89884	broad.mit.edu	37	1	180240979	180240979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:180240979C>T	ENST00000263726.2	+	5	860	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	206					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGTTTGGTTTCAGAACAGAAG	0.607																																						uc001goe.1		NA																	0				ovary(1)	1						c.(616-618)CAG>TAG		LIM homeobox protein 4							79.0	91.0	87.0					1																	180240979		2203	4300	6503	SO:0001587	stop_gained	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180240979C>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.616C>T	1.37:g.180240979C>T	ENSP00000263726:p.Gln206*					uc001gof.1_RNA	p.Q206*	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			5	839	+			206			Homeobox.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Nonsense_Mutation	SNP	ENST00000263726.2	37	c.616C>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	38	7.111553	0.98070	.	.	ENSG00000121454	ENST00000263726	.	.	.	5.59	5.59	0.84812	.	0.060023	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3679	0.90398	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000263726:Q206X	Q	+	1	0	LHX4	178507602	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.689000	0.84165	2.631000	0.89168	0.561000	0.74099	CAG		0.607	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		25	113	0	0	0	0	25	113				
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	rs202228818		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597																																						uc001hcf.1		NA																	0				ovary(1)	1						c.(988-990)GCC>ACC		kelch domain containing 8A							199.0	180.0	186.0					1																	205306592		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306592C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.988G>A	1.37:g.205306592C>T	ENSP00000356124:p.Ala330Thr					KLHDC8A_uc010prg.1_Missense_Mutation_p.A217T|KLHDC8A_uc001hcg.1_Missense_Mutation_p.A330T	p.A330T	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	1556	-	Breast(84;0.23)		330					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.988G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	KLHDC8A	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		32	118	0	0	0	0	32	118				
OBSCN	84033	broad.mit.edu	37	1	228476582	228476582	+	Silent	SNP	C	C	T	rs371792687		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:228476582C>T	ENST00000422127.1	+	38	10376	c.10332C>T	c.(10330-10332)acC>acT	p.T3444T	OBSCN_ENST00000570156.2_Silent_p.T3873T|OBSCN_ENST00000366709.4_Silent_p.T563T|OBSCN_ENST00000284548.11_Silent_p.T3444T|OBSCN_ENST00000366707.4_Silent_p.T563T|OBSCN_ENST00000359599.6_Silent_p.T2291T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3444	Ig-like 34.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTCTCACCGTGAAGGGTA	0.612																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10330-10332)ACC>ACT		obscurin, cytoskeletal calmodulin and		C	,	0,4390		0,0,2195	90.0	101.0	98.0		10332,10332	-4.9	0.0	1		98	1,8559	1.2+/-3.3	0,1,4279	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6474	TT,TC,CC		0.0117,0.0,0.0077	,	3444/7969,3444/6621	228476582	1,12949	2195	4280	6475	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228476582C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10332C>T	1.37:g.228476582C>T						OBSCN_uc001hsn.2_Silent_p.T3444T|OBSCN_uc001hsq.1_Silent_p.T700T	p.T3444T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			38	10376	+		Prostate(94;0.0405)	3444			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10332C>T	CCDS58065.1																																																																																				0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	43	0	0	0	0	9	43				
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Missense_Mutation	SNP	C	C	T	rs150529114		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:7774362C>T	ENST00000358415.4	+	14	1875	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488																																						uc001ijs.2		NA																	1	Substitution - Missense(1)	p.S570L(1)	skin(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1708-1710)TCG>TTG		inter-alpha globulin inhibitor H2 polypeptide							98.0	87.0	91.0					10																	7774362		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7774362C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1709C>T	10.37:g.7774362C>T	ENSP00000351190:p.Ser570Leu						p.S570L	NM_002216	NP_002207	P19823	ITIH2_HUMAN			14	1871	+			570					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1709C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342789	0.41498	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11604	2.76;2.76	5.32	5.32	0.75619	.	0.320760	0.30347	N	0.009836	T	0.08268	0.0206	L	0.43923	1.385	0.26822	N	0.968763	P	0.43750	0.816	B	0.31101	0.124	T	0.32666	-0.9898	10	0.32370	T	0.25	-15.174	12.2092	0.54369	0.2889:0.7111:0.0:0.0	.	570	P19823	ITIH2_HUMAN	L	570;559	ENSP00000351190:S570L;ENSP00000368906:S559L	ENSP00000351190:S570L	S	+	2	0	ITIH2	7814368	0.851000	0.29673	0.632000	0.29296	0.905000	0.53344	1.602000	0.36783	2.498000	0.84270	0.643000	0.83706	TCG		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	27	0	0	0	0	4	27				
RET	5979	broad.mit.edu	37	10	43606744	43606744	+	Silent	SNP	G	G	A	rs201568301		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:43606744G>A	ENST00000355710.3	+	7	1585	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	RET_ENST00000340058.5_Silent_p.T451T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	451					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACTGCAGCACGCTAGGGGTGG	0.582		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1351-1353)ACG>ACA		ret proto-oncogene isoform a	Sunitinib(DB01268)						126.0	112.0	116.0					10																	43606744		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606744G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1353G>A	10.37:g.43606744G>A						RET_uc001jak.1_Silent_p.T451T|RET_uc010qez.1_Silent_p.T197T	p.T451T	NM_020975	NP_066124	P07949	RET_HUMAN			7	1543	+		Ovarian(717;0.0423)	451			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1353G>A	CCDS7200.1																																																																																				0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		10	67	0	0	0	0	10	67				
POLR3A	11128	broad.mit.edu	37	10	79760814	79760814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:79760814C>A	ENST00000372371.3	-	18	2535	c.2398G>T	c.(2398-2400)Gga>Tga	p.G800*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	800					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.G800*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGTCCCACACAGGCA	0.443																																						uc001jzn.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(2398-2400)GGA>TGA		polymerase (RNA) III (DNA directed) polypeptide							107.0	100.0	103.0					10																	79760814		2203	4300	6503	SO:0001587	stop_gained	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79760814C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2398G>T	10.37:g.79760814C>A	ENSP00000361446:p.Gly800*						p.G800*	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		18	2492	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		800					Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	c.2398G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951539	0.99303	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.2982	20.2366	0.98359	0.0:1.0:0.0:0.0	.	.	.	.	X	800	.	.	G	-	1	0	POLR3A	79430820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.792000	0.96026	0.557000	0.71058	GGA		0.443	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		9	57	1	0	0.00448238	0.0046365	9	57				
CEP55	55165	broad.mit.edu	37	10	95276830	95276830	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95276830A>T	ENST00000371485.3	+	6	1122	c.818A>T	c.(817-819)cAa>cTa	p.Q273L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	273					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAAACCCAAAAAGAAGTT	0.358																																						uc009xug.2		NA																	0					0						c.(817-819)CAA>CTA		centrosomal protein 55kDa							75.0	77.0	76.0					10																	95276830		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276830A>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.818A>T	10.37:g.95276830A>T	ENSP00000360540:p.Gln273Leu					CEP55_uc001kiq.3_Missense_Mutation_p.Q273L	p.Q273L	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			6	1000	+		Colorectal(252;0.207)	273			Potential.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.818A>T	CCDS7428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.89|13.89	2.372244|2.372244	0.42003|0.42003	.|.	.|.	ENSG00000138180|ENSG00000138180	ENST00000445435|ENST00000371485;ENST00000358339	.|T	.|0.18174	.|2.23	5.74|5.74	4.58|4.58	0.56647|0.56647	.|.	.|0.456985	.|0.25472	.|N	.|0.030430	.|T	.|0.09992	.|0.0245	N|N	0.22421|0.22421	0.69|0.69	0.22933|0.22933	N|N	0.998545|0.998545	.|P	.|0.34462	.|0.454	.|B	.|0.27262	.|0.078	.|T	.|0.22836	.|-1.0205	.|10	.|0.28530	.|T	.|0.3	-11.3933|-11.3933	9.4982|9.4982	0.39001|0.39001	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|273	.|Q53EZ4	.|CEP55_HUMAN	X|L	113|273	.|ENSP00000360540:Q273L	.|ENSP00000351102:Q273L	K|Q	+|+	1|2	0|0	CEP55|CEP55	95266820|95266820	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.886000|2.886000	0.48578|0.48578	0.956000|0.956000	0.37904|0.37904	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.358	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		10	54	0	0	0	0	10	54				
PLCE1	51196	broad.mit.edu	37	10	95790868	95790868	+	Missense_Mutation	SNP	C	C	T	rs538129490		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95790868C>T	ENST00000371380.3	+	1	300	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PLCE1_ENST00000260766.3_Missense_Mutation_p.A22V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	22					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGGTTTCTGCCCAGTCGGCT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18747	0.0		0.0	False		,,,				2504	0.0					uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(64-66)GCC>GTC		phospholipase C, epsilon 1 isoform 1							82.0	78.0	79.0					10																	95790868		1889	4112	6001	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95790868C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.65C>T	10.37:g.95790868C>T	ENSP00000360431:p.Ala22Val					PLCE1_uc010qnx.1_Missense_Mutation_p.A22V	p.A22V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	699	+		Colorectal(252;0.0458)	22					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.65C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.851923	0.17034	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.30182	1.54;1.54	5.12	2.11	0.27256	.	0.477159	0.17595	N	0.168636	T	0.19366	0.0465	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18053	-1.0349	10	0.51188	T	0.08	.	8.9135	0.35568	0.0:0.6821:0.0:0.3179	.	22;22	B7ZM61;Q9P212	.;PLCE1_HUMAN	V	22	ENSP00000260766:A22V;ENSP00000360431:A22V	ENSP00000260766:A22V	A	+	2	0	PLCE1	95780858	0.618000	0.27051	0.002000	0.10522	0.253000	0.25986	0.890000	0.28295	0.603000	0.29913	-0.355000	0.07637	GCC		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		3	51	0	0	0	0	3	51				
FAM178A	55719	broad.mit.edu	37	10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:102683830G>C	ENST00000238961.4	+	5	1614	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	358						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAAGCAAGAGAGTCCTTCCT	0.398																																						uc001krt.3		NA																	0					0						c.(1072-1074)GAG>CAG		hypothetical protein LOC55719 isoform 1							54.0	55.0	55.0					10																	102683830		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102683830G>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1072G>C	10.37:g.102683830G>C	ENSP00000238961:p.Glu358Gln					FAM178A_uc001krr.1_Missense_Mutation_p.E358Q|FAM178A_uc001krs.2_Missense_Mutation_p.E358Q|FAM178A_uc001kru.1_Missense_Mutation_p.E293Q	p.E358Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			5	1614	+			358					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1072G>C	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181054	0.57800	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.60920	0.15;0.81;0.79	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000035	T	0.64907	0.2641	L	0.27053	0.805	0.33579	D	0.599636	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.87578	0.998;0.996;0.996;0.994	T	0.71830	-0.4474	10	0.54805	T	0.06	-17.7197	15.3459	0.74337	0.0:0.0:1.0:0.0	.	7;358;358;358	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	Q	358	ENSP00000359294:E358Q;ENSP00000238961:E358Q;ENSP00000359292:E358Q	ENSP00000238961:E358Q	E	+	1	0	FAM178A	102673820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.311000	0.65786	2.902000	0.99343	0.650000	0.86243	GAG		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			9	48	0	0	0	0	9	48				
POLL	27343	broad.mit.edu	37	10	103339236	103339236	+	Nonsense_Mutation	SNP	G	G	A	rs540905898		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:103339236G>A	ENST00000370162.3	-	9	2196	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	POLL_ENST00000370172.1_Nonsense_Mutation_p.R480*|POLL_ENST00000299206.4_Nonsense_Mutation_p.R568*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R293*|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.R568*|POLL_ENST00000456836.2_Nonsense_Mutation_p.R305*|POLL_ENST00000339310.3_Nonsense_Mutation_p.R291*|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370168.3_Nonsense_Mutation_p.R241*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	568					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCAGGTTCTCGGTAGGGGAGG	0.647								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.001					uc001ktg.1		NA																	0					0						c.(1702-1704)CGA>TGA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							65.0	59.0	61.0					10																	103339236		2203	4300	6503	SO:0001587	stop_gained	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339236G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1702C>T	10.37:g.103339236G>A	ENSP00000359181:p.Arg568*					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Nonsense_Mutation_p.R241*|POLL_uc001kte.1_Nonsense_Mutation_p.R260*|POLL_uc001kth.1_Nonsense_Mutation_p.R293*|POLL_uc001kti.1_Nonsense_Mutation_p.R568*|POLL_uc001ktj.1_Nonsense_Mutation_p.R568*|POLL_uc001ktf.2_Nonsense_Mutation_p.R476*|POLL_uc001ktk.1_Nonsense_Mutation_p.R307*|POLL_uc010qqa.1_Nonsense_Mutation_p.R307*|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Nonsense_Mutation_p.R568*|POLL_uc001ktl.2_Nonsense_Mutation_p.R480*|POLL_uc010qqc.1_Nonsense_Mutation_p.R260*	p.R568*	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	8	2468	-		Colorectal(252;0.234)	568					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	37	c.1702C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.218049	0.98143	.	.	ENSG00000166169	ENST00000299206;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000456836	.	.	.	4.38	3.45	0.39498	.	0.070113	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9702	11.2255	0.48882	0.0:0.0:0.6674:0.3325	.	.	.	.	X	568;568;291;480;241;568;293;305	.	ENSP00000299206:R568X	R	-	1	2	POLL	103329226	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.384000	0.59607	1.003000	0.39130	0.462000	0.41574	CGA		0.647	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		14	49	0	0	0	0	14	49				
ADAM12	8038	broad.mit.edu	37	10	127726869	127726869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:127726869G>A	ENST00000368679.4	-	20	2608	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	767					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587																																						uc001ljk.2		NA																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(2299-2301)CAC>TAC		ADAM metallopeptidase domain 12 isoform 1							48.0	42.0	44.0					10																	127726869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127726869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2299C>T	10.37:g.127726869G>A	ENSP00000357668:p.His767Tyr					ADAM12_uc010qul.1_Missense_Mutation_p.H718Y	p.H767Y	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	20	2712	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	767			Cytoplasmic (Potential).		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.2299C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	2.823	-0.244413	0.05906	.	.	ENSG00000148848	ENST00000368679	T	0.01548	4.78	4.92	3.01	0.34805	.	0.636688	0.14479	N	0.317073	T	0.01421	0.0046	L	0.29908	0.895	0.19575	N	0.999964	B	0.10296	0.003	B	0.06405	0.002	T	0.48080	-0.9066	10	0.02654	T	1	.	8.4063	0.32616	0.082:0.1553:0.7627:0.0	.	767	O43184	ADA12_HUMAN	Y	767	ENSP00000357668:H767Y	ENSP00000357668:H767Y	H	-	1	0	ADAM12	127716859	0.884000	0.30299	0.017000	0.16124	0.095000	0.18619	3.183000	0.50918	0.627000	0.30340	0.585000	0.79938	CAC		0.587	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			3	18	0	0	0	0	3	18				
OR51V1	283111	broad.mit.edu	37	11	5221401	5221401	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:5221401T>A	ENST00000321255.1	-	1	529	c.530A>T	c.(529-531)tAc>tTc	p.Y177F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGACAGTAATTAAAAAA	0.393																																						uc010qyz.1		NA																	0				skin(1)	1						c.(529-531)TAC>TTC		olfactory receptor, family 51, subfamily V,							46.0	50.0	49.0					11																	5221401		2201	4295	6496	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221401T>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.530A>T	11.37:g.5221401T>A	ENSP00000321729:p.Tyr177Phe						p.Y177F	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	530	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	177			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.530A>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	5.995	0.367476	0.11352	.	.	ENSG00000176742	ENST00000321255	T	0.34072	1.38	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000242	T	0.37679	0.1012	L	0.28115	0.83	0.21064	N	0.999792	D	0.89917	1.0	D	0.91635	0.999	T	0.29397	-1.0013	10	0.05620	T	0.96	.	8.3374	0.32224	0.2652:0.0:0.0:0.7348	.	177	Q9H2C8	O51V1_HUMAN	F	177	ENSP00000321729:Y177F	ENSP00000321729:Y177F	Y	-	2	0	OR51V1	5177977	0.002000	0.14202	0.118000	0.21660	0.031000	0.12232	-0.319000	0.08039	2.213000	0.71641	0.533000	0.62120	TAC		0.393	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		18	64	0	0	0	0	18	64				
APBB1	322	broad.mit.edu	37	11	6432243	6432243	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:6432243C>T	ENST00000609360.1	-	2	434	c.335G>A	c.(334-336)gGc>gAc	p.G112D	APBB1_ENST00000311051.3_Missense_Mutation_p.G112D|APBB1_ENST00000299402.6_Missense_Mutation_p.G112D|APBB1_ENST00000389906.2_Missense_Mutation_p.G112D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	112					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTGTATCAGGCCTTTGGGGCC	0.632																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1		NA																	0				breast(2)	2						c.(334-336)GGC>GAC		amyloid beta A4 precursor protein-binding,							165.0	178.0	174.0					11																	6432243		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432243C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.335G>A	11.37:g.6432243C>T	ENSP00000477213:p.Gly112Asp					APBB1_uc001mdc.1_Missense_Mutation_p.G112D|APBB1_uc010rah.1_Intron	p.G112D	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	435	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	112					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043581	0.55003	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.15718	2.4;2.4;2.41	4.66	4.66	0.58398	.	0.382752	0.24771	N	0.035736	T	0.22399	0.0540	N	0.19112	0.55	0.36495	D	0.868676	D	0.57257	0.979	P	0.56434	0.798	T	0.19257	-1.0311	10	0.62326	D	0.03	-15.2077	15.0896	0.72183	0.0:1.0:0.0:0.0	.	112	O00213-2	.	D	112	ENSP00000299402:G112D;ENSP00000311912:G112D;ENSP00000374556:G112D	ENSP00000299402:G112D	G	-	2	0	APBB1	6388819	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.354000	0.34056	2.152000	0.67230	0.393000	0.25936	GGC		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		45	182	0	0	0	0	45	182				
USP47	55031	broad.mit.edu	37	11	11971469	11971469	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971469A>G	ENST00000399455.2	+	24	3562	c.3442A>G	c.(3442-3444)Aaa>Gaa	p.K1148E	USP47_ENST00000339865.5_Missense_Mutation_p.K1060E|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.K1128E	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTGTTTGCTAAAGGAATGAC	0.338																																						uc001mjs.2		NA																	0				ovary(1)|skin(1)	2						c.(3382-3384)AAA>GAA		ubiquitin specific protease 47							125.0	113.0	117.0					11																	11971469		1858	4100	5958	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11971469A>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3442A>G	11.37:g.11971469A>G	ENSP00000382382:p.Lys1148Glu					USP47_uc001mjr.2_Missense_Mutation_p.K1060E|USP47_uc009ygi.2_5'Flank	p.K1128E	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	23	4145	+			1148					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3382A>G		.	.	.	.	.	.	.	.	.	.	A	27.9	4.871687	0.91587	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94723	-3.5;-3.5;-3.5	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	L	0.46157	1.445	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70935	0.971;0.969	D	0.95542	0.8613	10	0.45353	T	0.12	.	15.5746	0.76365	1.0:0.0:0.0:0.0	.	1128;1060	E9PM46;Q96K76-2	.;.	E	1060;1128;1148	ENSP00000339957:K1060E;ENSP00000433146:K1128E;ENSP00000382382:K1148E	ENSP00000339957:K1060E	K	+	1	0	USP47	11928045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.210000	0.71456	0.533000	0.62120	AAA		0.338	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		6	36	0	0	0	0	6	36				
USP47	55031	broad.mit.edu	37	11	11971484	11971484	+	Missense_Mutation	SNP	C	C	T	rs182809869		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971484C>T	ENST00000399455.2	+	24	3577	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W	USP47_ENST00000339865.5_Missense_Mutation_p.R1065W|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R1133W	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1153					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACTGTACGGCAATCAAA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					uc001mjs.2		NA																	0				ovary(1)|skin(1)	2						c.(3397-3399)CGG>TGG		ubiquitin specific protease 47		C	TRP/ARG	0,3722		0,0,1861	131.0	119.0	123.0		3193	4.5	1.0	11		123	1,8195		0,1,4097	no	missense	USP47	NM_017944.3	101	0,1,5958	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1065/1288	11971484	1,11917	1861	4098	5959	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11971484C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3457C>T	11.37:g.11971484C>T	ENSP00000382382:p.Arg1153Trp					USP47_uc001mjr.2_Missense_Mutation_p.R1065W|USP47_uc009ygi.2_5'Flank	p.R1133W	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	23	4160	+			1153					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3397C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.3	4.400514	0.83120	0.0	1.22E-4	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94723	-3.5;-3.5;-3.5	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.95650	0.8706	10	0.66056	D	0.02	.	15.0909	0.72192	0.1424:0.8576:0.0:0.0	.	1133;1065	E9PM46;Q96K76-2	.;.	W	1065;1133;1153	ENSP00000339957:R1065W;ENSP00000433146:R1133W;ENSP00000382382:R1153W	ENSP00000339957:R1065W	R	+	1	2	USP47	11928060	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.936000	0.56568	2.738000	0.93877	0.655000	0.94253	CGG		0.358	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		7	37	0	0	0	0	7	37				
MICALCL	84953	broad.mit.edu	37	11	12345523	12345523	+	Splice_Site	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:12345523A>G	ENST00000256186.2	+	5	1833		c.e5-1			NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGTTTTCATAGGAGAAGAAG	0.353																																						uc001mkg.1		NA																	0				skin(1)	1						c.e5-2		MICAL C-terminal like							58.0	58.0	58.0					11																	12345523		1798	4074	5872	SO:0001630	splice_region_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12345523A>G	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1543-1A>G	11.37:g.12345523A>G							p.E515_splice	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	5	1834	+								Q7RTP7|Q96JU6	Splice_Site	SNP	ENST00000256186.2	37	c.1543_splice	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	A	7.678	0.688491	0.14973	.	.	ENSG00000133808	ENST00000256186	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1938	0.31385	0.7731:0.0:0.0:0.2269	.	.	.	.	.	-1	.	.	.	+	.	.	MICALCL	12302099	0.995000	0.38212	0.908000	0.35775	0.094000	0.18550	3.718000	0.54919	1.896000	0.54893	0.460000	0.39030	.		0.353	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	Intron	3	77	0	0	0	0	3	77				
PIK3C2A	5286	broad.mit.edu	37	11	17140215	17140215	+	Silent	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17140215G>T	ENST00000265970.7	-	17	3011	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.I624I|RNU6-593P_ENST00000364716.1_RNA	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1004	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GTGCTATCTGGATATTTCCCA	0.289																																						uc001mmq.3		NA																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(3010-3012)ATC>ATA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						84.0	90.0	88.0					11																	17140215		2200	4283	6483	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17140215G>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3012C>A	11.37:g.17140215G>T						PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.I624I|PIK3C2A_uc001mmr.3_Intron	p.I1004I	NM_002645	NP_002636	O00443	P3C2A_HUMAN			17	3078	-			1004					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.3012C>A	CCDS7824.1																																																																																				0.289	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		29	120	1	0	7.01e-11	7.58e-11	29	120				
USH1C	10083	broad.mit.edu	37	11	17548829	17548829	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17548829G>A	ENST00000318024.4	-	5	545	c.437C>T	c.(436-438)aCc>aTc	p.T146I	USH1C_ENST00000005226.7_Missense_Mutation_p.T146I|USH1C_ENST00000527720.1_Missense_Mutation_p.T115I|USH1C_ENST00000527020.1_Missense_Mutation_p.T146I	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	146	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTCATGGGTACAGGAGGA	0.547																																						uc001mnf.2		NA																	0				ovary(1)	1						c.(436-438)ACC>ATC		harmonin isoform a							147.0	118.0	128.0					11																	17548829		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17548829G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.437C>T	11.37:g.17548829G>A	ENSP00000317018:p.Thr146Ile					USH1C_uc001mne.2_Missense_Mutation_p.T146I|USH1C_uc009yhb.2_Missense_Mutation_p.T146I|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.T110I	p.T146I	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			5	546	-			146			PDZ 1.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.437C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849615	0.71603	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.13	5.13	0.70059	PDZ/DHR/GLGF (4);	0.052227	0.85682	D	0.000000	T	0.44829	0.1312	M	0.67953	2.075	0.44595	D	0.997561	B;P;P	0.44139	0.185;0.549;0.827	B;P;P	0.48982	0.4;0.535;0.597	T	0.37798	-0.9690	10	0.45353	T	0.12	.	17.3679	0.87368	0.0:0.0:1.0:0.0	.	146;146;146	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	I	146;115;146;146;157	ENSP00000317018:T146I;ENSP00000432944:T115I;ENSP00000436934:T146I;ENSP00000005226:T146I;ENSP00000437128:T157I	ENSP00000005226:T146I	T	-	2	0	USH1C	17505405	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.946000	0.75953	2.373000	0.80994	0.563000	0.77884	ACC		0.547	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		13	68	0	0	0	0	13	68				
OR5L2	26338	broad.mit.edu	37	11	55594821	55594821	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55594821C>T	ENST00000378397.1	+	1	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTTAGCCAATCTGGGCATGAC	0.498										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(127-129)CTG>TTG		olfactory receptor, family 5, subfamily L,							326.0	284.0	298.0					11																	55594821		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594821C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.127C>T	11.37:g.55594821C>T		HNSCC(27;0.073)					p.L43L	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	127	+		all_epithelial(135;0.208)	43			Helical; Name=1; (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.127C>T	CCDS31511.1																																																																																				0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		63	247	0	0	0	0	63	247				
OR5D16	390144	broad.mit.edu	37	11	55606633	55606633	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55606633G>A	ENST00000378396.1	+	1	406	c.406G>A	c.(406-408)Gtt>Att	p.V136I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTCTACACAGTTGCCATCTC	0.453																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(406-408)GTT>ATT		olfactory receptor, family 5, subfamily D,							125.0	113.0	117.0					11																	55606633		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606633G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.406G>A	11.37:g.55606633G>A	ENSP00000367649:p.Val136Ile						p.V136I	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	406	+		all_epithelial(135;0.208)	136			Cytoplasmic (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.406G>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.996	0.367616	0.11352	.	.	ENSG00000205029	ENST00000378396	T	0.01197	5.19	4.15	0.579	0.17397	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01387	0.0045	L	0.38733	1.17	0.09310	N	1	B	0.31989	0.35	B	0.40101	0.319	T	0.48410	-0.9038	9	0.46703	T	0.11	-19.8414	2.7384	0.05246	0.4541:0.0:0.3345:0.2115	.	136	Q8NGK9	OR5DG_HUMAN	I	136	ENSP00000367649:V136I	ENSP00000367649:V136I	V	+	1	0	OR5D16	55363209	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.410000	0.07151	0.367000	0.24454	0.530000	0.56133	GTT		0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		20	83	0	0	0	0	20	83				
MMP13	4322	broad.mit.edu	37	11	102816405	102816405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:102816405C>T	ENST00000260302.3	-	9	1313	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MMP13_ENST00000340273.4_Missense_Mutation_p.D429N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	429	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TCTACTTTATCACCAATTCCT	0.338																																						uc001phl.2		NA																	0				ovary(2)|skin(1)	3						c.(1285-1287)GAT>AAT		matrix metalloproteinase 13 preproprotein							149.0	156.0	153.0					11																	102816405		2202	4297	6499	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102816405C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1285G>A	11.37:g.102816405C>T	ENSP00000260302:p.Asp429Asn						p.D429N	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	9	1313	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	429			Hemopexin-like 3.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1285G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000679	0.07819	.	.	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.15372	2.54;2.43	6.16	3.96	0.45880	Hemopexin/matrixin (2);	0.137923	0.64402	N	0.000004	T	0.11281	0.0275	L	0.27944	0.81	0.42635	D	0.993393	B	0.02656	0.0	B	0.09377	0.004	T	0.08722	-1.0708	10	0.10377	T	0.69	.	13.025	0.58810	0.0:0.8069:0.0:0.1931	.	429	P45452	MMP13_HUMAN	N	429	ENSP00000260302:D429N;ENSP00000339672:D429N	ENSP00000260302:D429N	D	-	1	0	MMP13	102321615	0.000000	0.05858	1.000000	0.80357	0.447000	0.32167	0.078000	0.14761	1.592000	0.50018	0.650000	0.86243	GAT		0.338	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		17	58	0	0	0	0	17	58				
OR6M1	390261	broad.mit.edu	37	11	123676380	123676380	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:123676380G>A	ENST00000309154.2	-	1	715	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	226						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)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCTGGGTGGAGGGGATACGCA	0.498																																						uc010rzz.1		NA																	0				skin(2)	2						c.(676-678)CCC>CCT		olfactory receptor, family 6, subfamily M,							79.0	67.0	71.0					11																	123676380		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676380G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.678C>T	11.37:g.123676380G>A							p.P226P	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	678	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	226			Cytoplasmic (Potential).		B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.678C>T	CCDS31696.1																																																																																				0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		5	21	0	0	0	0	5	21				
PARP11	57097	broad.mit.edu	37	12	3931108	3931108	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:3931108G>A	ENST00000228820.4	-	6	623	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000427057.2_Missense_Mutation_p.T79M|PARP11_ENST00000447133.3_Missense_Mutation_p.T79M|PARP11_ENST00000397096.2_Missense_Mutation_p.T153M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	153	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T153M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCGATCCATCGTCTTCCCAAA	0.348																																						uc001qmk.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(457-459)ACG>ATG		poly (ADP-ribose) polymerase family, member 11							82.0	88.0	86.0					12																	3931108		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3931108G>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.479C>T	12.37:g.3931108G>A	ENSP00000228820:p.Thr160Met					PARP11_uc001qml.2_Missense_Mutation_p.T160M|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.T79M|PARP11_uc001qmn.2_Missense_Mutation_p.T79M	p.T153M	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		5	513	-			153			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.458C>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323544	0.81580	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.11	5.11	0.69529	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.051511	0.85682	D	0.000000	T	0.53658	0.1810	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.984	T	0.62153	-0.6914	10	0.87932	D	0	.	16.0762	0.80969	0.0:0.0:1.0:0.0	.	79;160;153	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	M	153;79;160;79	ENSP00000380284:T153M;ENSP00000397058:T79M;ENSP00000228820:T160M;ENSP00000405385:T79M	ENSP00000228820:T160M	T	-	2	0	PARP11	3801369	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.893000	0.92498	2.633000	0.89246	0.637000	0.83480	ACG		0.348	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			19	72	0	0	0	0	19	72				
IFFO1	25900	broad.mit.edu	37	12	6664531	6664531	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6664531A>G	ENST00000396840.2	-	1	706	c.665T>C	c.(664-666)gTg>gCg	p.V222A	IFFO1_ENST00000356896.4_Missense_Mutation_p.V222A|IFFO1_ENST00000336604.4_Missense_Mutation_p.V222A|NOP2_ENST00000542015.1_5'Flank			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	222						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ATCCGGGTGCACCCACGACAA	0.682																																						uc001qpd.1		NA																	0					0						c.(664-666)GTG>GCG		intermediate filament family orphan isoform 2							60.0	65.0	63.0					12																	6664531		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664531A>G	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.665T>C	12.37:g.6664531A>G	ENSP00000380052:p.Val222Ala					IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.V222A|IFFO1_uc001qpf.1_Missense_Mutation_p.V222A|IFFO1_uc001qpc.1_Missense_Mutation_p.V222A	p.V222A	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			1	699	-			222					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.665T>C		.	.	.	.	.	.	.	.	.	.	A	17.23	3.337143	0.60963	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.48522	0.81;0.81;0.81	4.03	2.84	0.33178	.	0.116812	0.32970	N	0.005426	T	0.33235	0.0856	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.28291	0.206;0.206;0.206;0.206	B;B;B;B	0.28011	0.085;0.085;0.085;0.085	T	0.05037	-1.0910	10	0.11182	T	0.66	-16.3293	6.0536	0.19799	0.667:0.1698:0.0:0.1631	.	222;222;222;222	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	A	222	ENSP00000337593:V222A;ENSP00000380052:V222A;ENSP00000349364:V222A	ENSP00000337593:V222A	V	-	2	0	IFFO1	6534792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.411000	0.73298	0.660000	0.30964	0.459000	0.35465	GTG		0.682	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		9	50	0	0	0	0	9	50				
GPR162	27239	broad.mit.edu	37	12	6933294	6933294	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6933294G>A	ENST00000311268.3	+	2	1017	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGCTGCGTCGTCAGGCTTCC	0.602																																						uc001qqw.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(229-231)CGT>CAT		G protein-coupled receptor 162 isoform 2							116.0	88.0	97.0					12																	6933294		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933294G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.230G>A	12.37:g.6933294G>A	ENSP00000311528:p.Arg77His					GPR162_uc010sfn.1_Missense_Mutation_p.R77H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	p.R77H	NM_019858	NP_062832	Q16538	GP162_HUMAN			2	765	+			77			Extracellular (Potential).		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.230G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153143	0.38021	.	.	ENSG00000250510	ENST00000311268	T	0.37058	1.22	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22475	0.0542	N	0.19112	0.55	0.80722	D	1	P;P	0.45428	0.858;0.593	B;B	0.39562	0.303;0.093	T	0.02813	-1.1107	9	0.45353	T	0.12	.	9.9016	0.41351	0.095:0.0:0.905:0.0	.	77;77	B7Z3U3;Q16538	.;GP162_HUMAN	H	77	ENSP00000311528:R77H	ENSP00000311528:R77H	R	+	2	0	GPR162	6803555	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.610000	0.74178	2.034000	0.60081	0.313000	0.20887	CGT		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		11	62	0	0	0	0	11	62				
RAPGEF3	10411	broad.mit.edu	37	12	48131465	48131465	+	Missense_Mutation	SNP	G	G	A	rs528517741	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:48131465G>A	ENST00000449771.2	-	28	2745	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S844L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S886L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S777L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S844L|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.S844L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	886	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGACTGCTCCGAGCCTGGTGG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17004	0.002		0.0	False		,,,				2504	0.0					uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(2530-2532)TCG>TTG		Rap guanine nucleotide exchange factor 3 isoform							39.0	38.0	38.0					12																	48131465		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48131465G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2657C>T	12.37:g.48131465G>A	ENSP00000395708:p.Ser886Leu					uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.S179L|RAPGEF3_uc001rpx.2_Missense_Mutation_p.S301L|RAPGEF3_uc010sln.1_Missense_Mutation_p.S341L|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.S844L|RAPGEF3_uc001rpz.3_Missense_Mutation_p.S886L	p.S844L	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	27	2971	-	Lung SC(27;0.192)		844					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2531C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285296	0.95517	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.71222	-0.38;-0.39;-0.38;-0.38;-0.39;-0.55	5.29	5.29	0.74685	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.250921	0.33180	N	0.005189	T	0.69824	0.3154	N	0.08118	0	0.58432	D	0.999997	D	0.89917	1.0	D	0.66716	0.946	T	0.76990	-0.2754	10	0.66056	D	0.02	.	16.416	0.83738	0.0:0.0:1.0:0.0	.	886	O95398	RPGF3_HUMAN	L	844;886;533;844;844;844;886;831;777	ENSP00000384521:S844L;ENSP00000395708:S886L;ENSP00000448619:S844L;ENSP00000171000:S844L;ENSP00000373864:S886L;ENSP00000448480:S777L	ENSP00000171000:S844L	S	-	2	0	RAPGEF3	46417732	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.658000	0.91110	2.483000	0.83821	0.561000	0.74099	TCG		0.602	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		8	25	0	0	0	0	8	25				
KMT2D	8085	broad.mit.edu	37	12	49438595	49438595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49438595G>C	ENST00000301067.7	-	19	4894	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1632					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGGGCATCTGAGGGCTCAGA	0.607																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4894-4896)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							88.0	94.0	92.0					12																	49438595		2076	4202	6278	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49438595G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4895C>G	12.37:g.49438595G>C	ENSP00000301067:p.Ser1632*	HNSCC(34;0.089)					p.S1632*	NM_003482	NP_003473	O14686	MLL2_HUMAN			19	4895	-			1632					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4895C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	42	9.181470	0.99092	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	4.92	0.64577	.	0.299963	0.18482	N	0.139901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9629	0.30081	0.2366:0.0:0.7634:0.0	.	.	.	.	X	1632	.	ENSP00000301067:S1632X	S	-	2	0	MLL2	47724862	0.998000	0.40836	0.847000	0.33407	0.278000	0.26855	2.365000	0.44196	1.465000	0.48006	0.655000	0.94253	TCA		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	58	0	0	0	0	17	58				
KMT2D	8085	broad.mit.edu	37	12	49448693	49448693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49448693G>A	ENST00000301067.7	-	2	165	c.166C>T	c.(166-168)Cag>Tag	p.Q56*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	56					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCAGTCCTGAGGAGTCTCC	0.522																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(166-168)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							136.0	132.0	133.0					12																	49448693		1933	4148	6081	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49448693G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.166C>T	12.37:g.49448693G>A	ENSP00000301067:p.Gln56*	HNSCC(34;0.089)					p.Q56*	NM_003482	NP_003473	O14686	MLL2_HUMAN			2	166	-			56					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.166C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797114	0.70567	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	.	.	.	5.3	3.45	0.39498	.	2.063160	0.03106	N	0.161798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4804	0.33038	0.0:0.1676:0.6584:0.174	.	.	.	.	X	56	.	ENSP00000301067:Q56X	Q	-	1	0	MLL2	47734960	1.000000	0.71417	0.993000	0.49108	0.724000	0.41520	3.246000	0.51414	0.585000	0.29608	0.557000	0.71058	CAG		0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			40	139	0	0	0	0	40	139				
ASIC1	41	broad.mit.edu	37	12	50480110	50480110	+	IGR	SNP	C	C	T	rs376164103		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:50480110C>T	ENST00000447966.2	+	0	3778				SMARCD1_ENST00000548573.1_5'Flank|SMARCD1_ENST00000394963.4_Missense_Mutation_p.A115V|SMARCD1_ENST00000381513.4_Missense_Mutation_p.A115V	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CAGCAGCAGGCGGTCCAAAAT	0.617																																						uc001rvx.3		NA																	0				ovary(1)	1						c.(343-345)GCG>GTG		SWI/SNF-related matrix-associated		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	34.0	36.0	35.0		344,344	5.2	1.0	12		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMARCD1	NM_003076.4,NM_139071.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	115/516,115/475	50480110	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50480110C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812		12.37:g.50480110C>T						SMARCD1_uc010smo.1_Missense_Mutation_p.A115V|SMARCD1_uc001rvy.3_Missense_Mutation_p.A115V|SMARCD1_uc009zlp.2_Missense_Mutation_p.A115V	p.A115V	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			2	514	+			115			Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.344C>T	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557926	0.45590	0.0	1.16E-4	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	D;D;T	0.85258	-1.96;-1.96;0.53	5.19	5.19	0.71726	.	0.240810	0.41823	D	0.000812	T	0.77075	0.4077	N	0.17082	0.46	0.80722	D	1	P;P;B	0.49961	0.93;0.723;0.024	B;B;B	0.41412	0.356;0.172;0.006	T	0.78069	-0.2348	10	0.33940	T	0.23	-8.0772	19.1101	0.93313	0.0:1.0:0.0:0.0	.	115;115;115	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	V	115;115;115;115;53	ENSP00000378414:A115V;ENSP00000370924:A115V;ENSP00000449825:A53V	ENSP00000370924:A115V	A	+	2	0	SMARCD1	48766377	0.994000	0.37717	1.000000	0.80357	0.703000	0.40648	2.374000	0.44274	2.588000	0.87417	0.650000	0.86243	GCG		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	24	0	0	0	0	7	24				
CCDC64	92558	broad.mit.edu	37	12	120510422	120510422	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:120510422C>T	ENST00000397558.2	+	6	1197	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.D48D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	399					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCATGGACGAGTCTTCAG	0.572																																						uc001txl.1		NA																	0				ovary(2)	2						c.(1195-1197)GAC>GAT		coiled-coil domain containing 64							59.0	62.0	61.0					12																	120510422		2113	4234	6347	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510422C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1197C>T	12.37:g.120510422C>T						CCDC64_uc001txk.2_Silent_p.D399D|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Silent_p.D48D	p.D399D	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			6	1222	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		399					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.1197C>T	CCDS41845.1																																																																																				0.572	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		13	50	0	0	0	0	13	50				
MLEC	9761	broad.mit.edu	37	12	121125205	121125205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:121125205G>A	ENST00000228506.3	+	1	534	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	MLEC_ENST00000412616.2_Missense_Mutation_p.V36M	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	36					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGTggccggcgtggccggcgc	0.746																																						uc001tyy.1		NA																	0				ovary(1)	1						c.(106-108)GTG>ATG		malectin precursor							5.0	7.0	7.0					12																	121125205		1849	3819	5668	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125205G>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.106G>A	12.37:g.121125205G>A	ENSP00000228506:p.Val36Met						p.V36M	NM_014730	NP_055545	Q14165	MLEC_HUMAN			1	257	+			36			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000228506.3	37	c.106G>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890291	0.52014	.	.	ENSG00000110917	ENST00000228506;ENST00000412616	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.28001	N	0.935274	P	0.44006	0.824	B	0.29176	0.099	T	0.04551	-1.0943	8	0.44086	T	0.13	.	12.9446	0.58365	0.0:0.1635:0.8365:0.0	.	36	Q14165	MLEC_HUMAN	M	36	.	ENSP00000228506:V36M	V	+	1	0	MLEC	119609588	0.965000	0.33210	1.000000	0.80357	0.372000	0.29890	0.337000	0.19841	2.663000	0.90544	0.561000	0.74099	GTG		0.746	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		4	6	0	0	0	0	4	6				
RB1	5925	broad.mit.edu	37	13	48954379	48954379	+	Splice_Site	SNP	T	T	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:48954379T>G	ENST00000267163.4	+	16	1636		c.e16+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATATAGCAGTAAGTTAAATT	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS973319	RB1	S		c.e16+2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						43.0	45.0	44.0					13																	48954379		2201	4299	6500	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48954379T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1498+2T>G	13.37:g.48954379T>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R500_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1664	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1498_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716534	0.89205	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7449	0.77932	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47852380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.456000	0.66665	2.114000	0.64651	0.533000	0.62120	.		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	10	0	0	0	0	4	10				
PCCA	5095	broad.mit.edu	37	13	100915005	100915005	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:100915005C>G	ENST00000376285.1	+	10	777	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	PCCA_ENST00000376279.3_Missense_Mutation_p.Q247E|PCCA_ENST00000376286.4_Missense_Mutation_p.Q221E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	247	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTGTCATCTCAAGAAGCTGC	0.418																																						uc001voo.2		NA																	0				skin(2)	2						c.(739-741)CAA>GAA		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						116.0	131.0	126.0					13																	100915005		2203	4298	6501	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100915005C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.739C>G	13.37:g.100915005C>G	ENSP00000365462:p.Gln247Glu					PCCA_uc010aga.2_Missense_Mutation_p.Q221E|PCCA_uc010tiz.1_Missense_Mutation_p.Q247E	p.Q247E	NM_000282	NP_000273	P05165	PCCA_HUMAN			10	777	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.739C>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638542	0.47153	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97575	-4.44;-4.44;-4.44	5.12	5.12	0.69794	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	N	0.21373	0.66	0.80722	D	1	B;B;B	0.13145	0.007;0.006;0.007	B;B;B	0.15484	0.013;0.008;0.013	D	0.90191	0.4250	10	0.33940	T	0.23	.	18.5495	0.91058	0.0:1.0:0.0:0.0	.	247;221;247	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	E	221;247;247	ENSP00000365463:Q221E;ENSP00000365456:Q247E;ENSP00000365462:Q247E	ENSP00000365456:Q247E	Q	+	1	0	PCCA	99713006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	2.358000	0.79984	0.655000	0.94253	CAA		0.418	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			30	136	0	0	0	0	30	136				
PSMA6	5687	broad.mit.edu	37	14	35786477	35786477	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:35786477G>C	ENST00000261479.4	+	7	826	c.706G>C	c.(706-708)Gat>Cat	p.D236H	PSMA6_ENST00000556506.1_Nonstop_Mutation_p.*204S|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.D217H|PSMA6_ENST00000555764.1_Missense_Mutation_p.D157H|PSMA6_ENST00000553809.1_Missense_Mutation_p.D242H	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	236					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCAGAGATTGATGCTCACCT	0.373																																						uc001wtd.2		NA																	0					0						c.(706-708)GAT>CAT		proteasome alpha 6 subunit							222.0	207.0	212.0					14																	35786477		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35786477G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.706G>C	14.37:g.35786477G>C	ENSP00000261479:p.Asp236His					KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.D157H|PSMA6_uc010tpu.1_Missense_Mutation_p.D157H	p.D236H	NM_002791	NP_002782	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	7	815	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		236					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.706G>C	CCDS9655.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.75|19.75|19.75	3.885091|3.885091|3.885091	0.72410|0.72410|0.72410	.|.|.	.|.|.	ENSG00000100902|ENSG00000100902|ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764|ENST00000556221|ENST00000556506	T;T;T;T|.|.	0.46819|.|.	0.86;0.86;0.86;0.86|.|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.75539|0.75539|.	0.3863|0.3863|.	M|M|M	0.88842|0.88842|0.88842	2.985|2.985|2.985	0.09310|0.09310|0.09310	N|N|N	1|1|1	D|.|.	0.60575|.|.	0.988|.|.	P|.|.	0.53593|.|.	0.73|.|.	T|T|.	0.70288|0.70288|.	-0.4913|-0.4913|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-10.0435|-10.0435|-10.0435	19.1885|19.1885|19.1885	0.93654|0.93654|0.93654	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	236|.|.	P60900|.|.	PSA6_HUMAN|.|.	H|F|S	217;236;242;157|74|204	ENSP00000444844:D217H;ENSP00000261479:D236H;ENSP00000452603:D242H;ENSP00000452566:D157H|.|.	ENSP00000261479:D236H|.|.	D|L|X	+|+|+	1|3|2	0|2|2	PSMA6|PSMA6|PSMA6	34856228|34856228|34856228	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	8.759000|8.759000|8.759000	0.91667|0.91667|0.91667	2.581000|2.581000|2.581000	0.87130|0.87130|0.87130	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|TTG|TGA		0.373	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			29	131	0	0	0	0	29	131				
ZFYVE26	23503	broad.mit.edu	37	14	68252948	68252948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:68252948G>A	ENST00000347230.4	-	17	3160	c.3022C>T	c.(3022-3024)Cga>Tga	p.R1008*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.R1008*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1008					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTATCCGTCGACCTGGAAAT	0.388																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(3022-3024)CGA>TGA		zinc finger, FYVE domain containing 26							68.0	65.0	66.0					14																	68252948		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68252948G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3022C>T	14.37:g.68252948G>A	ENSP00000251119:p.Arg1008*					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.R1008*	p.R1008*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	17	3161	-			1008					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.3022C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	43	9.831954	0.99275	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.44	5.44	0.79542	.	0.368103	0.25261	N	0.031956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3017	19.2594	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	1008;987;1008	.	ENSP00000251119:R1008X	R	-	1	2	ZFYVE26	67322701	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.396000	0.59684	2.531000	0.85337	0.655000	0.94253	CGA		0.388	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		8	19	0	0	0	0	8	19				
PCNX	22990	broad.mit.edu	37	14	71493536	71493536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:71493536C>T	ENST00000304743.2	+	15	3849	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1024*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1135*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1135						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTCCTGCCTCAGGTGAATAC	0.284																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(3403-3405)CAG>TAG		pecanex-like 1							132.0	128.0	129.0					14																	71493536		2202	4298	6500	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71493536C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3403C>T	14.37:g.71493536C>T	ENSP00000304192:p.Gln1135*					PCNX_uc010are.1_Nonsense_Mutation_p.Q1024*|PCNX_uc010arf.1_5'UTR	p.Q1135*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	15	3849	+			1135					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.3403C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359866	0.95854	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0755	0.93159	0.0:1.0:0.0:0.0	.	.	.	.	X	1135;1135;1024	.	ENSP00000238570:Q1135X	Q	+	1	0	PCNX	70563289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.775000	0.85489	2.515000	0.84797	0.655000	0.94253	CAG		0.284	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		14	64	0	0	0	0	14	64				
VSX2	338917	broad.mit.edu	37	14	74726405	74726405	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:74726405G>A	ENST00000261980.2	+	4	770	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	227	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.		R -> W (in MCOP2). {ECO:0000269|PubMed:15257456}.		cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCATGGTGCGGCACTCCATC	0.637																																						uc001xpq.2		NA																	0				ovary(1)	1						c.(679-681)CGG>CAG		visual system homeobox 2							120.0	97.0	105.0					14																	74726405		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74726405G>A	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.680G>A	14.37:g.74726405G>A	ENSP00000261980:p.Arg227Gln						p.R227Q	NM_182894	NP_878314	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	4	770	+			227		R -> W (in MCOP2).	CVC.		A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.680G>A	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751044	0.96890	.	.	ENSG00000119614	ENST00000261980	D	0.92299	-3.01	5.13	5.13	0.70059	CVC domain (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95501	0.8577	10	0.59425	D	0.04	.	18.7787	0.91922	0.0:0.0:1.0:0.0	.	227	P58304	VSX2_HUMAN	Q	227	ENSP00000261980:R227Q	ENSP00000261980:R227Q	R	+	2	0	VSX2	73796158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.578000	0.98200	2.669000	0.90835	0.655000	0.94253	CGG		0.637	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		12	56	0	0	0	0	12	56				
TDP1	55775	broad.mit.edu	37	14	90433740	90433740	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90433740C>T	ENST00000335725.4	+	5	883	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Silent_p.L211L|TDP1_ENST00000393452.3_Silent_p.L211L|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Silent_p.L211L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	211					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGACTGGCTCGTAAAACAGT	0.408								Repair of DNA-protein crosslinks																														uc001xxy.2		NA																	0				ovary(2)	2						c.(631-633)CTC>CTT	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							171.0	165.0	167.0					14																	90433740		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90433740C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.633C>T	14.37:g.90433740C>T						TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L211L|TDP1_uc010atn.2_Silent_p.L211L|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L211L	p.L211L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	5	932	+		all_cancers(154;0.185)	211					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.633C>T	CCDS9888.1																																																																																				0.408	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		18	81	0	0	0	0	18	81				
KCNK13	56659	broad.mit.edu	37	14	90650902	90650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90650902A>G	ENST00000282146.4	+	2	1223	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	261					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCTTTGCCAACTTCGTCTTC	0.493																																						uc001xye.1		NA																	0				skin(1)	1						c.(781-783)AAC>AGC		potassium channel, subfamily K, member 13							118.0	107.0	111.0					14																	90650902		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650902A>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.782A>G	14.37:g.90650902A>G	ENSP00000282146:p.Asn261Ser						p.N261S	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1224	+		all_cancers(154;0.186)	261					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.782A>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141003	0.77775	.	.	ENSG00000152315	ENST00000282146	T	0.27720	1.65	5.42	5.42	0.78866	Ion transport 2 (1);	0.000000	0.45126	D	0.000396	T	0.41236	0.1150	L	0.37466	1.105	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14811	-1.0459	10	0.06625	T	0.88	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	261	Q9HB14	KCNKD_HUMAN	S	261	ENSP00000282146:N261S	ENSP00000282146:N261S	N	+	2	0	KCNK13	89720655	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.315000	0.96313	2.050000	0.60909	0.533000	0.62120	AAC		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		23	81	0	0	0	0	23	81				
ATG2B	55102	broad.mit.edu	37	14	96783566	96783566	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:96783566G>A	ENST00000359933.4	-	20	4019	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1042					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTGAGAGTCTAATTTTT	0.373																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(3124-3126)GAC>GAT		ATG2 autophagy related 2 homolog B							79.0	76.0	77.0					14																	96783566		1799	4069	5868	SO:0001819	synonymous_variant	55102							g.chr14:96783566G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3126C>T	14.37:g.96783566G>A							p.D1042D	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	3491	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1042					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.3126C>T	CCDS9944.2																																																																																				0.373	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		12	60	0	0	0	0	12	60				
ADAM10	102	broad.mit.edu	37	15	58925416	58925416	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:58925416A>G	ENST00000260408.3	-	9	1598	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V84V|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTTATGTCCAACTTCGTGAG	0.323																																						uc002afd.1		NA																	0				skin(2)	2						c.(1153-1155)GTT>GTC		ADAM metallopeptidase domain 10 precursor							88.0	85.0	86.0					15																	58925416		2192	4292	6484	SO:0001819	synonymous_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925416A>G	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1155T>C	15.37:g.58925416A>G						ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Silent_p.V84V|ADAM10_uc002afe.1_Intron	p.V385V	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1599	-			385			Peptidase M12B.|Extracellular (Potential).		B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	c.1155T>C	CCDS10167.1																																																																																				0.323	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		13	29	0	0	0	0	13	29				
MYO1E	4643	broad.mit.edu	37	15	59455404	59455404	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:59455404C>T	ENST00000288235.4	-	23	2978	c.2579G>A	c.(2578-2580)cGt>cAt	p.R860H		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	860	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCCTCGTAACGCTTTGCTAA	0.433																																						uc002aga.2		NA																	0				central_nervous_system(3)	3						c.(2578-2580)CGT>CAT		myosin IE							109.0	95.0	100.0					15																	59455404		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59455404C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2579G>A	15.37:g.59455404C>T	ENSP00000288235:p.Arg860His						p.R860H	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	23	2951	-			860					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.2579G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876884	0.51801	.	.	ENSG00000157483	ENST00000288235	T	0.35048	1.33	4.09	4.09	0.47781	Myosin tail 2 (1);	0.126684	0.50627	D	0.000104	T	0.33702	0.0872	L	0.53249	1.67	0.51012	D	0.999901	B	0.16802	0.019	B	0.23574	0.047	T	0.19516	-1.0303	10	0.46703	T	0.11	.	10.5242	0.44938	0.0:0.9109:0.0:0.0891	.	860	Q12965	MYO1E_HUMAN	H	860	ENSP00000288235:R860H	ENSP00000288235:R860H	R	-	2	0	MYO1E	57242696	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.792000	0.62467	2.295000	0.77249	0.655000	0.94253	CGT		0.433	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		7	27	0	0	0	0	7	27				
SRRM2	23524	broad.mit.edu	37	16	2816182	2816182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:2816182C>T	ENST00000301740.8	+	11	6202	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1885	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGATAAGCCGACGTAGGTC	0.592																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5653-5655)CGA>TGA		splicing coactivator subunit SRm300							98.0	93.0	95.0					16																	2816182		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816182C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5653C>T	16.37:g.2816182C>T	ENSP00000301740:p.Arg1885*					SRRM2_uc002crj.1_Nonsense_Mutation_p.R1789*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R1885*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R1789*	p.R1885*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	6202	+			1885			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.5653C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	46	12.171439	0.99643	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.46	4.48	0.54585	.	0.000000	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1756	13.1081	0.59259	0.1615:0.8385:0.0:0.0	.	.	.	.	X	1885;1885;1137	.	ENSP00000301740:R1885X	R	+	1	2	SRRM2	2756183	0.978000	0.34361	0.987000	0.45799	0.996000	0.88848	0.746000	0.26275	1.247000	0.43917	0.650000	0.86243	CGA		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			9	49	0	0	0	0	9	49				
PLEKHG4	25894	broad.mit.edu	37	16	67318623	67318623	+	Missense_Mutation	SNP	C	C	T	rs368565515		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:67318623C>T	ENST00000360461.5	+	12	4235	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T486M|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T567M|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T567M	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	567							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCCTTGACGTGGGCTGAG	0.637																																						uc002eso.3		NA																	0				skin(1)|pancreas(1)	2						c.(1699-1701)ACG>ATG		pleckstrin homology domain containing, family G		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4389		0,1,2194	20.0	22.0	21.0		1700,1700,1700,1457,1700	0.4	0.0	16		21	0,8592		0,0,4296	no	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	81,81,81,81,81	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	567/1192,567/1192,567/1192,486/1111,567/1192	67318623	1,12981	2195	4296	6491	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318623C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1700C>T	16.37:g.67318623C>T	ENSP00000353646:p.Thr567Met					PLEKHG4_uc002esp.3_Missense_Mutation_p.T374M|PLEKHG4_uc002esq.3_Missense_Mutation_p.T567M|PLEKHG4_uc010cef.2_Missense_Mutation_p.T567M|PLEKHG4_uc002ess.3_Missense_Mutation_p.T567M|PLEKHG4_uc010ceg.2_Missense_Mutation_p.T486M	p.T567M	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4235	+			567					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1700C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	3.269	-0.149577	0.06585	2.28E-4	0.0	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10382	2.88;2.88;2.88;2.91	4.68	0.415	0.16411	.	0.485065	0.15409	N	0.263882	T	0.10981	0.0268	M	0.62723	1.935	0.09310	N	1	B;B	0.25351	0.124;0.037	B;B	0.20577	0.03;0.004	T	0.18587	-1.0332	10	0.56958	D	0.05	.	6.6994	0.23217	0.1247:0.625:0.0:0.2503	.	486;567	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	M	567;567;567;486	ENSP00000353646:T567M;ENSP00000401118:T567M;ENSP00000368649:T567M;ENSP00000398030:T486M	ENSP00000353646:T567M	T	+	2	0	PLEKHG4	65876124	0.001000	0.12720	0.003000	0.11579	0.177000	0.22998	0.149000	0.16243	-0.380000	0.07894	-1.628000	0.00784	ACG		0.637	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		6	27	0	0	0	0	6	27				
NFAT5	10725	broad.mit.edu	37	16	69703948	69703948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:69703948G>A	ENST00000354436.2	+	7	1702	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	NFAT5_ENST00000566899.1_Missense_Mutation_p.E386K|NFAT5_ENST00000349945.1_Missense_Mutation_p.E386K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E480K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E386K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E480K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	462					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGAGAAGAAGAAGTGTTTTT	0.363																																						uc002exm.1		NA																	0					0						c.(1384-1386)GAA>AAA		nuclear factor of activated T-cells 5 isoform c							60.0	61.0	61.0					16																	69703948		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69703948G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1384G>A	16.37:g.69703948G>A	ENSP00000346420:p.Glu462Lys					NFAT5_uc002exh.1_Missense_Mutation_p.E256K|NFAT5_uc002exi.2_Missense_Mutation_p.E386K|NFAT5_uc002exj.1_Missense_Mutation_p.E386K|NFAT5_uc002exk.1_Missense_Mutation_p.E386K|NFAT5_uc002exl.1_Missense_Mutation_p.E480K|NFAT5_uc002exn.1_Missense_Mutation_p.E480K	p.E462K	NM_006599	NP_006590	O94916	NFAT5_HUMAN			7	2592	+			462					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1384G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453508	0.96223	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.18	5.18	0.71444	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.76494	0.997;0.978;0.997;0.999	D;P;D;D	0.77004	0.976;0.653;0.964;0.989	T	0.55218	-0.8175	10	0.36615	T	0.2	-3.1562	18.6886	0.91574	0.0:0.0:1.0:0.0	.	480;462;480;386	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	K	480;480;386;462;386	ENSP00000396538:E480K;ENSP00000338806:E386K;ENSP00000346420:E462K;ENSP00000377343:E386K	ENSP00000338806:E386K	E	+	1	0	NFAT5	68261449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.837000	0.99465	2.396000	0.81511	0.585000	0.79938	GAA		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	38	0	0	0	0	8	38				
ZNRF1	84937	broad.mit.edu	37	16	75146543	75146543	+	IGR	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:75146543C>T	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Missense_Mutation_p.E416K|LDHD_ENST00000300051.4_Missense_Mutation_p.E439K|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CCCAGTTCCTCGGCGTCATCA	0.602																																						uc002fdm.2		NA																	0					0						c.(1315-1317)GAG>AAG		D-lactate dehydrogenase isoform 1 precursor							63.0	53.0	57.0					16																	75146543		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146543C>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146543C>T						LDHD_uc002fdn.2_Missense_Mutation_p.E416K	p.E439K	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			10	1362	-			439					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1315G>A	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624778	0.28889	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.89939	-2.59;-2.59	5.51	3.54	0.40534	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.300341	0.35772	N	0.002998	T	0.82010	0.4944	L	0.39326	1.205	0.39389	D	0.966387	B;B	0.18166	0.012;0.026	B;B	0.16722	0.009;0.016	T	0.75093	-0.3439	10	0.44086	T	0.13	-18.8361	6.6962	0.23201	0.0:0.6985:0.1475:0.1541	.	416;439	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	K	416;439	ENSP00000417011:E416K;ENSP00000300051:E439K	ENSP00000300051:E439K	E	-	1	0	LDHD	73704044	0.784000	0.28713	0.056000	0.19401	0.022000	0.10575	2.074000	0.41529	0.677000	0.31305	0.563000	0.77884	GAG		0.602	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			10	39	0	0	0	0	10	39				
VMO1	284013	broad.mit.edu	37	17	4688867	4688867	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:4688867G>A	ENST00000328739.5	-	3	478	c.399C>T	c.(397-399)ctC>ctT	p.L133L	VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000354194.4_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	133						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGTTGTCACCGAGGGTCGTGG	0.642																																						uc002fyx.2		NA																	0				ovary(1)	1						c.(397-399)CTC>CTT		vitelline membrane outer layer 1 isoform 1							70.0	61.0	64.0					17																	4688867		2203	4300	6503	SO:0001819	synonymous_variant	284013				vitelline membrane formation	extracellular region		g.chr17:4688867G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.399C>T	17.37:g.4688867G>A						VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	p.L133L	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN			3	481	-			133					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Silent	SNP	ENST00000328739.5	37	c.399C>T	CCDS11055.1																																																																																				0.642	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		6	23	0	0	0	0	6	23				
CCT6B	10693	broad.mit.edu	37	17	33288392	33288392	+	Silent	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:33288392G>C	ENST00000314144.5	-	1	136	c.21C>G	c.(19-21)gtC>gtG	p.V7V	CCT6B_ENST00000421975.3_Silent_p.V7V|ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000436961.3_Silent_p.V7V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	7					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CCTTGGAGTTGACGGCCTTTA	0.572																																						uc002hig.2		NA																	0				pancreas(1)	1						c.(19-21)GTC>GTG		chaperonin containing TCP1, subunit 6B							41.0	45.0	44.0					17																	33288392		2203	4300	6503	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33288392G>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.21C>G	17.37:g.33288392G>C						CCT6B_uc010ctg.2_Silent_p.V7V|CCT6B_uc010wcc.1_Silent_p.V7V|ZNF830_uc002hih.3_5'Flank	p.V7V	NM_006584	NP_006575	Q92526	TCPW_HUMAN			1	115	-		Ovarian(249;0.17)	7					B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.21C>G	CCDS32617.1																																																																																				0.572	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		4	48	0	0	0	0	4	48				
HEATR9	256957	broad.mit.edu	37	17	34190080	34190080	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:34190080C>G	ENST00000311880.2	-	8	823	c.675G>C	c.(673-675)gaG>gaC	p.E225D	C17orf66_ENST00000592980.1_Missense_Mutation_p.E185D|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		225					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCATTTTTCTCCTTCAGCT	0.537																																						uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.(673-675)GAG>GAC		hypothetical protein LOC256957							170.0	159.0	163.0					17																	34190080		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34190080C>G																												ENST00000311880.2:c.675G>C	17.37:g.34190080C>G	ENSP00000309560:p.Glu225Asp					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.E185D|C17orf66_uc010wcm.1_Missense_Mutation_p.E191D	p.E225D	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	8	824	-		Ovarian(249;0.17)	225					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.675G>C	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413636	0.04799	.	.	ENSG00000172653	ENST00000311880	T	0.42513	0.97	5.12	0.344	0.16006	Armadillo-like helical (1);Armadillo-type fold (1);	0.618333	0.14495	N	0.316103	T	0.18341	0.0440	N	0.19112	0.55	0.09310	N	0.999993	B;B;B	0.31817	0.218;0.341;0.231	B;B;B	0.32762	0.059;0.152;0.073	T	0.23332	-1.0191	10	0.02654	T	1	.	2.7723	0.05338	0.2037:0.4192:0.0:0.3771	.	191;185;225	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	D	225	ENSP00000309560:E225D	ENSP00000309560:E225D	E	-	3	2	C17orf66	31214193	0.095000	0.21747	0.154000	0.22540	0.232000	0.25224	-0.039000	0.12124	0.241000	0.21283	-0.345000	0.07892	GAG		0.537	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			20	104	0	0	0	0	20	104				
ABCC3	8714	broad.mit.edu	37	17	48750428	48750428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:48750428G>A	ENST00000285238.8	+	18	2418	c.2338G>A	c.(2338-2340)Gcg>Acg	p.A780T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	780	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCCACTGTCCGCGGTGGACTC	0.602																																						uc002isl.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(2338-2340)GCG>ACG		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						86.0	70.0	75.0					17																	48750428		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750428G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2338G>A	17.37:g.48750428G>A	ENSP00000285238:p.Ala780Thr						p.A780T	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		18	2418	+			780			ABC transporter 1.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2338G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327411	0.95708	.	.	ENSG00000108846	ENST00000285238	D	0.91631	-2.88	4.72	4.72	0.59763	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.061993	0.64402	D	0.000005	D	0.97405	0.9151	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.98655	1.0681	10	0.87932	D	0	-10.5314	18.5715	0.91137	0.0:0.0:1.0:0.0	.	780	O15438	MRP3_HUMAN	T	780	ENSP00000285238:A780T	ENSP00000285238:A780T	A	+	1	0	ABCC3	46105427	1.000000	0.71417	0.891000	0.34965	0.786000	0.44442	7.903000	0.87398	2.558000	0.86282	0.561000	0.74099	GCG		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		13	46	0	0	0	0	13	46				
TEX2	55852	broad.mit.edu	37	17	62238187	62238187	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:62238187C>T	ENST00000583097.1	-	8	2950	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L	TEX2_ENST00000584379.1_Silent_p.L926L|TEX2_ENST00000258991.3_Silent_p.L933L			Q8IWB9	TEX2_HUMAN	testis expressed 2	926					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCAACCTTCAGGGCTTCAA	0.443																																						uc002jec.2		NA																	0				ovary(1)	1						c.(2776-2778)CTG>CTA		testis expressed sequence 2							165.0	176.0	172.0					17																	62238187		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62238187C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2778G>A	17.37:g.62238187C>T						TEX2_uc002jed.2_Silent_p.L933L|TEX2_uc002jee.2_Silent_p.L926L	p.L926L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	8	2951	-			926					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2778G>A																																																																																					0.443	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		54	213	0	0	0	0	54	213				
MC2R	4158	broad.mit.edu	37	18	13884716	13884716	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:13884716T>A	ENST00000327606.3	-	2	982	c.802A>T	c.(802-804)Aat>Tat	p.N268Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	268					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACGGCATTGCACATGATC	0.502																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(802-804)AAT>TAT		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						118.0	107.0	111.0					18																	13884716		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884716T>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.802A>T	18.37:g.13884716T>A	ENSP00000333821:p.Asn268Tyr						p.N268Y	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	979	-			268			Helical; Name=7; (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.802A>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500666	0.64298	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.47869	0.83	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.052550	0.85682	D	0.000000	T	0.71609	0.3360	M	0.89287	3.02	0.38117	D	0.937749	D	0.67145	0.996	D	0.64687	0.928	T	0.80915	-0.1169	10	0.87932	D	0	.	14.81	0.69989	0.0:0.0:0.0:1.0	.	268	Q01718	ACTHR_HUMAN	Y	268	ENSP00000333821:N268Y	ENSP00000333821:N268Y	N	-	1	0	MC2R	13874716	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.856000	0.55964	1.904000	0.55121	0.533000	0.62120	AAT		0.502	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			23	69	0	0	0	0	23	69				
PQLC1	80148	broad.mit.edu	37	18	77664144	77664144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:77664144G>C	ENST00000397778.2	-	6	830	c.648C>G	c.(646-648)ttC>ttG	p.F216L	PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.F133L|PQLC1_ENST00000357575.4_Missense_Mutation_p.F198L|PQLC1_ENST00000590381.1_Nonsense_Mutation_p.S126*	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	216	PQ-loop 2.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGGCCGTCTTGAAGGCGTCAC	0.647																																						uc002lnl.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(646-648)TTC>TTG		PQ loop repeat containing 1 isoform 1							62.0	59.0	60.0					18																	77664144		2203	4300	6503	SO:0001583	missense	80148					integral to membrane		g.chr18:77664144G>C	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.648C>G	18.37:g.77664144G>C	ENSP00000380880:p.Phe216Leu					PQLC1_uc010dre.2_Missense_Mutation_p.F133L|PQLC1_uc002lnk.2_Missense_Mutation_p.F198L|PQLC1_uc010xfm.1_Nonsense_Mutation_p.S126*	p.F216L	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	6	820	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	216			PQ-loop 2.		B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.648C>G	CCDS12020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.877846|1.877846	0.33162|0.33162	.|.	.|.	ENSG00000122490|ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575|ENST00000351365	D;D;D|.	0.98044|.	-4.68;-4.68;-4.68|.	4.8|4.8	2.61|2.61	0.31194|0.31194	.|.	0.054383|.	0.85682|.	N|.	0.000000|.	T|.	0.70649|.	0.3248|.	M|M	0.75085|0.75085	2.285|2.285	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.29590|.	0.25;0.214|.	B;B|.	0.39094|.	0.29;0.162|.	T|.	0.70673|.	-0.4807|.	10|.	0.36615|0.40728	T|T	0.2|0.16	-30.9135|-30.9135	11.8017|11.8017	0.52130|0.52130	0.1767:0.0:0.8233:0.0|0.1767:0.0:0.8233:0.0	.|.	216;198|.	Q8N2U9;G5E989|.	PQLC1_HUMAN;.|.	L|X	216;133;198|126	ENSP00000380880:F216L;ENSP00000387221:F133L;ENSP00000350188:F198L|.	ENSP00000350188:F198L|ENSP00000315627:S126X	F|S	-|-	3|2	2|0	PQLC1|PQLC1	75765132|75765132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	1.926000|1.926000	0.40084|0.40084	1.018000|1.018000	0.39521|0.39521	-0.140000|-0.140000	0.14226|0.14226	TTC|TCA		0.647	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		14	20	0	0	0	0	14	20				
CHAF1A	10036	broad.mit.edu	37	19	4431980	4431980	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:4431980G>A	ENST00000301280.5	+	12	2080	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	660	Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATAAGGTCCGCCAGAAACTG	0.562								Chromatin Structure																														uc002mal.2		NA																	0				ovary(1)|skin(1)	2						c.(1978-1980)CGC>CAC	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							84.0	81.0	82.0					19																	4431980		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4431980G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1979G>A	19.37:g.4431980G>A	ENSP00000301280:p.Arg660His						p.R660H	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2079	+		Hepatocellular(1079;0.137)	660			Necessary for homodimerization and competence for chromatin assembly.|Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1979G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671685	0.47781	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.17528	2.27	4.71	3.64	0.41730	.	.	.	.	.	T	0.11965	0.0291	L	0.32530	0.975	0.49389	D	0.999787	P	0.50710	0.938	B	0.35240	0.198	T	0.07139	-1.0788	9	0.87932	D	0	-32.3913	12.7846	0.57498	0.0812:0.0:0.9188:0.0	.	660	Q13111	CAF1A_HUMAN	H	660	ENSP00000301280:R660H	ENSP00000301280:R660H	R	+	2	0	CHAF1A	4382980	1.000000	0.71417	0.729000	0.30791	0.539000	0.34962	6.260000	0.72502	1.297000	0.44761	0.561000	0.74099	CGC		0.562	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		4	112	0	0	0	0	4	112				
ISYNA1	51477	broad.mit.edu	37	19	18546719	18546719	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:18546719C>T	ENST00000338128.8	-	8	1205	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	ISYNA1_ENST00000578963.1_Missense_Mutation_p.V202M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.V128M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.V180M|ISYNA1_ENST00000457269.4_Missense_Mutation_p.V276M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	330					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTGTAACTCACGATGGACATG	0.622																																						uc002njd.1		NA																	0				ovary(1)|pancreas(1)	2						c.(988-990)GTG>ATG		inositol-3-phosphate synthase 1							145.0	153.0	150.0					19																	18546719		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546719C>T		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.988G>A	19.37:g.18546719C>T	ENSP00000337746:p.Val330Met					ISYNA1_uc002nja.1_Missense_Mutation_p.V202M|ISYNA1_uc002njb.1_Missense_Mutation_p.V248M|ISYNA1_uc002njc.1_Missense_Mutation_p.V180M|ISYNA1_uc010xqh.1_Missense_Mutation_p.V128M|ISYNA1_uc002nje.1_Missense_Mutation_p.V276M|ISYNA1_uc002njf.1_Missense_Mutation_p.V180M	p.V330M	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			8	1038	-			330					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.988G>A	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474350	0.43942	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.58	4.58	0.56647	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.64402	D	0.000002	T	0.77498	0.4139	M	0.73372	2.23	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.989;0.989;0.982	T	0.80551	-0.1332	9	0.72032	D	0.01	-29.0444	15.2171	0.73277	0.0:1.0:0.0:0.0	.	128;276;330;180	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	330;276;180;128	.	ENSP00000315147:V128M	V	-	1	0	ISYNA1	18407719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.053000	0.64269	2.264000	0.75181	0.561000	0.74099	GTG		0.622	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		40	160	0	0	0	0	40	160				
AXL	558	broad.mit.edu	37	19	41765694	41765694	+	Missense_Mutation	SNP	C	C	T	rs61737385		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:41765694C>T	ENST00000301178.4	+	20	2760	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.A589V|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000359092.3_Missense_Mutation_p.A848V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	857					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTCACTGCGGCTGAGGTC	0.637																																						uc010ehj.2		NA																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(2569-2571)GCG>GTG		AXL receptor tyrosine kinase isoform 1							64.0	53.0	57.0					19																	41765694		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765694C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2570C>T	19.37:g.41765694C>T	ENSP00000301178:p.Ala857Val					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.A848V|HNRNPUL1_uc010ehl.1_5'Flank	p.A857V	NM_021913	NP_068713	P30530	UFO_HUMAN			20	2760	+			857			Cytoplasmic (Potential).		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2570C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257903	0.22965	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75589	-0.95;-0.89	4.68	2.52	0.30459	.	0.622471	0.15608	N	0.253548	T	0.51568	0.1682	N	0.19112	0.55	0.09310	N	1	P;P	0.46277	0.875;0.802	B;B	0.33392	0.163;0.078	T	0.39121	-0.9629	10	0.39692	T	0.17	-2.1309	8.3539	0.32318	0.1548:0.7612:0.0:0.084	rs61737385	848;857	P30530-2;P30530	.;UFO_HUMAN	V	857;848	ENSP00000301178:A857V;ENSP00000351995:A848V	ENSP00000301178:A857V	A	+	2	0	AXL	46457534	0.160000	0.22878	0.001000	0.08648	0.354000	0.29330	2.854000	0.48325	0.558000	0.29135	0.591000	0.81541	GCG		0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			7	42	0	0	0	0	7	42				
IRF2BP1	26145	broad.mit.edu	37	19	46388584	46388584	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:46388584G>A	ENST00000302165.3	-	1	792	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCCCTTCGCGCCCCCTCAGC	0.716																																						uc002pds.1		NA																	0					0						c.(448-450)GCG>GTG		interferon regulatory factor 2 binding protein							15.0	16.0	16.0					19																	46388584		2190	4267	6457	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388584G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.449C>T	19.37:g.46388584G>A	ENSP00000307265:p.Ala150Val						p.A150V	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	793	-		all_neural(266;0.113)|Ovarian(192;0.127)	150					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.449C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627909	0.46944	.	.	ENSG00000170604	ENST00000302165	T	0.44083	0.93	4.47	4.47	0.54385	.	0.187541	0.35207	U	0.003364	T	0.24699	0.0599	N	0.22421	0.69	0.38104	D	0.937346	P	0.42010	0.768	B	0.33521	0.165	T	0.12941	-1.0528	10	0.13108	T	0.6	.	14.6658	0.68907	0.0:0.0:1.0:0.0	.	150	Q8IU81	I2BP1_HUMAN	V	150	ENSP00000307265:A150V	ENSP00000307265:A150V	A	-	2	0	IRF2BP1	51080424	0.865000	0.29922	0.995000	0.50966	0.959000	0.62525	2.831000	0.48144	2.306000	0.77630	0.462000	0.41574	GCG		0.716	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		6	16	0	0	0	0	6	16				
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:51361366C>A	ENST00000326003.2	+	3	329	c.288C>A	c.(286-288)ttC>ttA	p.F96L	KLK3_ENST00000360617.3_Missense_Mutation_p.F96L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.F96L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(286-288)TTC>TTA		prostate specific antigen isoform 3							89.0	74.0	79.0					19																	51361366		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361366C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.288C>A	19.37:g.51361366C>A	ENSP00000314151:p.Phe96Leu					KLK3_uc010ycj.1_Missense_Mutation_p.F96L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	p.F96L	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	329	+		all_neural(266;0.057)	96			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.288C>A	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404103	0.62288	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.87966	-2.32;-2.32	2.14	2.14	0.27477	.	0.186156	0.26499	N	0.024030	D	0.82646	0.5082	L	0.38531	1.155	0.80722	D	1	P;D	0.55172	0.867;0.97	P;P	0.47645	0.496;0.553	T	0.83243	-0.0057	10	0.62326	D	0.03	.	10.3284	0.43807	0.0:1.0:0.0:0.0	.	96;96	Q8NCW4;G3XAE3	.;.	L	96	ENSP00000314151:F96L;ENSP00000353829:F96L	ENSP00000314151:F96L	F	+	3	2	KLK3	56053178	0.001000	0.12720	0.009000	0.14445	0.153000	0.21895	0.171000	0.16685	1.495000	0.48549	0.505000	0.49811	TTC		0.577	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		13	41	1	0	1.5e-05	1.58e-05	13	41				
ZNF320	162967	broad.mit.edu	37	19	53384034	53384034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:53384034C>T	ENST00000595635.1	-	8	1846	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ZNF320_ENST00000391781.2_Missense_Mutation_p.A449T|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GAATTAAAGGCTTTACCACAA	0.403																																						uc002qag.2		NA																	0					0						c.(1345-1347)GCC>ACC		zinc finger protein 320							95.0	82.0	87.0					19																	53384034		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384034C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1345G>A	19.37:g.53384034C>T	ENSP00000473091:p.Ala449Thr					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.A395T|ZNF320_uc002qai.2_Missense_Mutation_p.A449T	p.A449T	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1536	-			449			C2H2-type 11.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1345G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	6.602	0.479371	0.12581	.	.	ENSG00000182986	ENST00000391781	T	0.36157	1.27	1.75	-0.778	0.10977	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	N	0.03238	-0.38	0.09310	N	1	P	0.40398	0.716	B	0.35039	0.194	T	0.09930	-1.0652	9	0.29301	T	0.29	.	0.1425	0.00085	0.2402:0.2594:0.2384:0.262	.	449	A2RRD8	ZN320_HUMAN	T	449	ENSP00000375660:A449T	ENSP00000375660:A449T	A	-	1	0	ZNF320	58075846	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	0.019000	0.13444	0.045000	0.15804	0.194000	0.17425	GCC		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		6	65	0	0	0	0	6	65				
KIR3DL3	115653	broad.mit.edu	37	19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T	rs367886097		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547																																						uc002qgu.1		NA																	1	Substitution - Missense(1)	p.A174V(1)	ovary(1)	ovary(2)	2						c.(520-522)GCG>GTG		killer cell immunoglobulin-like receptor, three		C	VAL/ALA	1,3955		0,1,1977	105.0	88.0	95.0		521	-2.8	0.0	19		95	0,6878		0,0,3439	no	missense	KIR3DL3	NM_153443.3	64	0,1,5416	TT,TC,CC		0.0,0.0253,0.0092	possibly-damaging	174/411	55239242	1,10833	1978	3439	5417	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55239242C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.521C>T	19.37:g.55239242C>T	ENSP00000291860:p.Ala174Val					KIR2DL3_uc002qgv.2_Intron	p.A174V	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	539	+			174			Ig-like C2-type 2.|Extracellular (Potential).		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.521C>T	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439250	0.25900	2.53E-4	0.0	ENSG00000242019	ENST00000291860	T	0.02787	4.16	1.38	-2.75	0.05914	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02807	0.0084	L	0.31664	0.95	0.09310	N	1	D	0.57571	0.98	P	0.46389	0.515	T	0.36407	-0.9749	9	0.87932	D	0	.	4.6375	0.12531	0.1785:0.2293:0.5921:0.0	.	174	Q8N743	KI3L3_HUMAN	V	174	ENSP00000291860:A174V	ENSP00000291860:A174V	A	+	2	0	KIR3DL3	59931054	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.073000	0.11468	-0.758000	0.04690	-2.628000	0.00155	GCG		0.547	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		62	41	0	0	0	0	62	41				
NLRP4	147945	broad.mit.edu	37	19	56369057	56369057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:56369057C>G	ENST00000301295.6	+	3	720	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	NLRP4_ENST00000587891.1_Missense_Mutation_p.Q25E|NLRP4_ENST00000346986.5_Missense_Mutation_p.Q100E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	100					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGACCTATCAAGCTCACGC	0.423																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(298-300)CAA>GAA		NLR family, pyrin domain containing 4							90.0	85.0	87.0					19																	56369057		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369057C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.298C>G	19.37:g.56369057C>G	ENSP00000301295:p.Gln100Glu					NLRP4_uc002qmf.2_Missense_Mutation_p.Q25E|NLRP4_uc010etf.2_Translation_Start_Site	p.Q100E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	720	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	100					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.298C>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057969	0.36277	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.73575	-0.76;-0.72	3.62	-1.55	0.08558	DEATH-like (1);	.	.	.	.	T	0.70868	0.3273	N	0.19112	0.55	0.09310	N	1	D;D	0.65815	0.995;0.988	P;P	0.60789	0.879;0.696	T	0.64076	-0.6492	9	0.51188	T	0.08	.	10.5304	0.44973	0.6798:0.3202:0.0:0.0	.	25;100	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	E	100	ENSP00000301295:Q100E;ENSP00000344787:Q100E	ENSP00000301295:Q100E	Q	+	1	0	NLRP4	61060869	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	-0.012000	0.12699	-0.138000	0.11434	-0.182000	0.12963	CAA		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		17	74	0	0	0	0	17	74				
PEG3	5178	broad.mit.edu	37	19	57328787	57328787	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:57328787G>C	ENST00000326441.9	-	10	1386	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.F215L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F341L|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F217L|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	341					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1021-1023)TTC>TTG		paternally expressed 3 isoform 1							77.0	71.0	73.0					19																	57328787		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328787G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1023C>G	19.37:g.57328787G>C	ENSP00000326581:p.Phe341Leu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.F312L|PEG3_uc002qnv.2_Missense_Mutation_p.F341L|PEG3_uc002qnw.2_Missense_Mutation_p.F217L|PEG3_uc002qnx.2_Missense_Mutation_p.F215L|PEG3_uc010etr.2_Missense_Mutation_p.F341L	p.F341L	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1374	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	341					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1023C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614343	0.14129	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02369	4.32;4.32	4.27	3.23	0.37069	.	0.613283	0.14688	N	0.304319	T	0.01800	0.0057	N	0.16656	0.425	.	.	.	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.10450	0.005;0.005;0.003	T	0.31052	-0.9957	9	0.10636	T	0.68	-3.8193	5.9555	0.19271	0.1025:0.1949:0.7026:0.0	.	217;341;276	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	341;341;311	ENSP00000326581:F341L;ENSP00000403051:F341L	ENSP00000292074:F311L	F	-	3	2	ZIM2	62020599	0.262000	0.24073	0.370000	0.25965	0.654000	0.38779	3.003000	0.49505	1.384000	0.46424	0.561000	0.74099	TTC		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			12	83	0	0	0	0	12	83				
ZNF324B	388569	broad.mit.edu	37	19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:58967762C>T	ENST00000336614.4	+	4	1558	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	ZNF324B_ENST00000391696.1_Missense_Mutation_p.T474M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T484M	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCGTGTGCACGCAGTGTGGC	0.672																																						uc002qsv.1		NA																	0				ovary(1)	1						c.(1450-1452)ACG>ATG		zinc finger protein 324B																																				SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967762C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1451C>T	19.37:g.58967762C>T	ENSP00000337473:p.Thr484Met					ZNF324B_uc002qsu.1_Missense_Mutation_p.T474M|ZNF324B_uc010euq.1_Missense_Mutation_p.T484M	p.T484M	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1558	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	484			C2H2-type 9.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1451C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968712	0.18659	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.18502	2.21;2.21;2.21	3.22	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.560215	0.15070	N	0.282270	T	0.35307	0.0927	M	0.76002	2.32	0.09310	N	1	D;P	0.71674	0.998;0.552	D;B	0.63033	0.91;0.102	T	0.03608	-1.1020	10	0.56958	D	0.05	.	10.0361	0.42129	0.0:0.7918:0.2082:0.0	.	484;474	Q6AW86;C9JTQ8	Z324B_HUMAN;.	M	484;484;474	ENSP00000337473:T484M;ENSP00000438930:T484M;ENSP00000375578:T474M	ENSP00000337473:T484M	T	+	2	0	ZNF324B	63659574	0.000000	0.05858	0.005000	0.12908	0.024000	0.10985	-0.165000	0.09968	1.784000	0.52394	0.591000	0.81541	ACG		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		11	62	0	0	0	0	11	62				
NBAS	51594	broad.mit.edu	37	2	15415898	15415898	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:15415898C>G	ENST00000281513.5	-	44	5459	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E1692Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1812					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCAATGCTTCAAGAGGACTC	0.373																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(5434-5436)GAA>CAA		neuroblastoma-amplified protein							61.0	64.0	63.0					2																	15415898		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415898C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5434G>C	2.37:g.15415898C>G	ENSP00000281513:p.Glu1812Gln					NBAS_uc010exl.1_Missense_Mutation_p.E884Q|NBAS_uc002rcd.1_RNA	p.E1812Q	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5460	-			1812					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5434G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.236223|3.236223	0.58886|0.58886	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.09911|0.26810	2.93;3.1|1.71	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.367225|.	0.33005|.	N|.	0.005383|.	T|T	0.42765|0.42765	0.1217|0.1217	L|L	0.54323|0.54323	1.7|1.7	0.48511|0.48511	D|D	0.999665|0.999665	P;B|.	0.47350|.	0.894;0.411|.	B;B|.	0.43225|.	0.412;0.07|.	T|T	0.03103|0.03103	-1.1072|-1.1072	10|7	0.87932|0.35671	D|T	0|0.21	.|.	19.6592|19.6592	0.95857|0.95857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1692;1812|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	Q|F	1692;1812|859	ENSP00000413201:E1692Q;ENSP00000281513:E1812Q|ENSP00000398411:L859F	ENSP00000281513:E1812Q|ENSP00000398411:L859F	E|L	-|-	1|3	0|2	NBAS|NBAS	15333349|15333349	0.398000|0.398000	0.25279|0.25279	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	4.356000|4.356000	0.59430|0.59430	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.373	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		11	76	0	0	0	0	11	76				
LRP1B	53353	broad.mit.edu	37	2	140992403	140992403	+	Silent	SNP	C	C	T	rs149169898	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:140992403C>T	ENST00000389484.3	-	90	14582	c.13611G>A	c.(13609-13611)gcG>gcA	p.A4537A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4537					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		agatgggcggcgctgtgtgtg	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13609-13611)GCG>GCA		low density lipoprotein-related protein 1B		C		0,4406		0,0,2203	114.0	112.0	112.0		13611	1.9	1.0	2	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP1B	NM_018557.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		4537/4600	140992403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992403C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13611G>A	2.37:g.140992403C>T		TSP Lung(27;0.18)					p.A4537A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	90	14583	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4537			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.13611G>A	CCDS2182.1																																																																																				0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	46	0	0	0	0	7	46				
MYO3B	140469	broad.mit.edu	37	2	171055792	171055792	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:171055792C>T	ENST00000408978.4	+	2	220	c.77C>T	c.(76-78)aCc>aTc	p.T26I	MYO3B_ENST00000409044.3_Missense_Mutation_p.T26I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.T35I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	26					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCACAGACACCTGGGAAATT	0.413																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(76-78)ACC>ATC		myosin IIIB isoform 2							83.0	80.0	81.0					2																	171055792		1869	4087	5956	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171055792C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.77C>T	2.37:g.171055792C>T	ENSP00000386213:p.Thr26Ile					MYO3B_uc002ufv.2_Missense_Mutation_p.T13I|MYO3B_uc010fqb.1_Missense_Mutation_p.T13I|MYO3B_uc002ufz.2_Missense_Mutation_p.T26I|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.T13I	p.T26I	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			2	220	+			26					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.77C>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033488	0.35893	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.55	5.55	0.83447	Protein kinase-like domain (1);	0.153823	0.56097	D	0.000023	T	0.21921	0.0528	N	0.20766	0.605	0.42758	D	0.993795	D;B;B;P	0.55800	0.973;0.382;0.264;0.955	P;B;B;P	0.58266	0.726;0.206;0.153;0.836	T	0.01874	-1.1256	10	0.45353	T	0.12	.	19.5113	0.95142	0.0:1.0:0.0:0.0	.	26;26;26;26	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	I	26;26;25;35;35	ENSP00000386497:T26I;ENSP00000386213:T26I;ENSP00000446237:T35I;ENSP00000335100:T35I	ENSP00000314213:T25I	T	+	2	0	MYO3B	170764038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.588000	0.60999	2.620000	0.88729	0.563000	0.77884	ACC		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	43	0	0	0	0	8	43				
TTN	7273	broad.mit.edu	37	2	179604387	179604387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179604387C>T	ENST00000591111.1	-	46	12846	c.12622G>A	c.(12622-12624)Gaa>Aaa	p.E4208K	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4525K|TTN_ENST00000342175.6_Missense_Mutation_p.E4354K|TTN_ENST00000359218.5_Missense_Mutation_p.E4287K|TTN_ENST00000460472.2_Missense_Mutation_p.E4162K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTAGATTCAACTTCTGGT	0.398																																						uc010zfh.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13060-13062)GAA>AAA		titin isoform novex-2							100.0	100.0	100.0					2																	179604387		1856	4102	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604387C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12622G>A	2.37:g.179604387C>T	ENSP00000465570:p.Glu4208Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4287K|TTN_uc010zfj.1_Missense_Mutation_p.E4162K|TTN_uc002umz.1_Intron	p.E4354K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13284	-			4280					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13060G>A		.	.	.	.	.	.	.	.	.	.	C	7.628	0.678341	0.14841	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59906	0.28;0.24;0.23	5.56	0.308	0.15815	.	.	.	.	.	T	0.47229	0.1434	L	0.47716	1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46816	-0.9164	9	0.87932	D	0	.	7.4608	0.27294	0.0:0.5378:0.1667:0.2955	.	4162;4287;4354	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4162;4354;4287;4162	ENSP00000434586:E4162K;ENSP00000340554:E4354K;ENSP00000352154:E4287K	ENSP00000340554:E4354K	E	-	1	0	TTN	179312632	0.000000	0.05858	0.012000	0.15200	0.390000	0.30446	-0.230000	0.09083	0.321000	0.23259	0.655000	0.94253	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	99	0	0	0	0	29	99				
MAP2	4133	broad.mit.edu	37	2	210559886	210559886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:210559886C>A	ENST00000360351.4	+	7	3498	c.2992C>A	c.(2992-2994)Caa>Aaa	p.Q998K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q994K	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	998					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACCTATGAGCAAGCTTTGGC	0.418																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2992-2994)CAA>AAA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						85.0	82.0	83.0					2																	210559886		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559886C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2992C>A	2.37:g.210559886C>A	ENSP00000353508:p.Gln998Lys					MAP2_uc002vdc.1_Missense_Mutation_p.Q998K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q994K	p.Q998K	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3240	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	998					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2992C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	9.211	1.031016	0.19590	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.21932	1.98;1.98	5.88	1.85	0.25348	MAP2/Tau projection (1);	0.810630	0.11080	N	0.601959	T	0.19644	0.0472	L	0.44542	1.39	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.28385	0.053;0.089	T	0.36578	-0.9742	10	0.07175	T	0.84	-2.1523	15.1345	0.72552	0.1042:0.3486:0.5472:0.0	.	994;998	P11137-3;P11137	.;MAP2_HUMAN	K	998;994	ENSP00000353508:Q998K;ENSP00000392164:Q994K	ENSP00000353508:Q998K	Q	+	1	0	MAP2	210268131	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	0.928000	0.28831	0.057000	0.16193	0.650000	0.86243	CAA		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	60	1	0	0.000157383	0.000164206	8	60				
CPS1	1373	broad.mit.edu	37	2	211459299	211459299	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:211459299C>T	ENST00000233072.5	+	12	1428	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	CPS1_ENST00000430249.2_Missense_Mutation_p.P417L|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	411					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCAGTCTTACCGAAGCCAGCA	0.363																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1231-1233)CCG>CTG		carbamoyl-phosphate synthetase 1 isoform b							145.0	131.0	136.0					2																	211459299		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211459299C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1232C>T	2.37:g.211459299C>T	ENSP00000233072:p.Pro411Leu					CPS1_uc010fur.2_Missense_Mutation_p.P417L|CPS1_uc010fus.2_5'UTR	p.P411L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	12	1364	+			411					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1232C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740782	0.69304	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.97710	-4.5;-4.49	5.83	5.83	0.93111	Pre-ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.76328	2.33	0.80722	D	1	P;P	0.45986	0.87;0.87	B;B	0.33620	0.167;0.167	D	0.95646	0.8702	10	0.29301	T	0.29	-2.9845	20.1099	0.97909	0.0:1.0:0.0:0.0	.	421;411	Q59HF8;P31327	.;CPSM_HUMAN	L	417;419;411;411	ENSP00000402608:P417L;ENSP00000233072:P411L	ENSP00000233072:P411L	P	+	2	0	CPS1	211167544	1.000000	0.71417	0.970000	0.41538	0.634000	0.38068	6.757000	0.74924	2.753000	0.94483	0.585000	0.79938	CCG		0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	41	0	0	0	0	10	41				
STK36	27148	broad.mit.edu	37	2	219559301	219559301	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:219559301C>T	ENST00000295709.3	+	21	2733	c.2454C>T	c.(2452-2454)gaC>gaT	p.D818D	STK36_ENST00000392106.2_Silent_p.D818D|STK36_ENST00000440309.1_Silent_p.D818D|STK36_ENST00000392105.3_Silent_p.D818D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGACCTTTGACCTCCAGCCCA	0.552																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(2452-2454)GAC>GAT		serine/threonine kinase 36							103.0	98.0	99.0					2																	219559301		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219559301C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2454C>T	2.37:g.219559301C>T						STK36_uc002viv.2_Silent_p.D818D|STK36_uc002viw.2_5'UTR|STK36_uc002vix.2_5'Flank	p.D818D	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	21	2720	+		Renal(207;0.0915)	818						Silent	SNP	ENST00000295709.3	37	c.2454C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093718	0.20471	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.01	0.855	0.19013	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-7.0106	4.3912	0.11341	0.2452:0.2161:0.4561:0.0826	.	.	.	.	I	12	.	.	T	+	2	0	STK36	219267545	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	-0.123000	0.10611	0.287000	0.22375	-0.165000	0.13383	ACC		0.552	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	84	0	0	0	0	20	84				
MSL3P1	151507	broad.mit.edu	37	2	234775835	234775835	+	RNA	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:234775835C>G	ENST00000438684.1	-	0	279					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ACTGTTCTTTCTTCCATTTCC	0.383																																						uc010znf.1		NA																	0					0						c.(7-9)GAA>CAA		SubName: Full=cDNA FLJ52683, highly similar to Male-specific lethal 3-like 1; SubName: Full=cDNA, FLJ79271, highly similar to Male-specific lethal 3-like 1; SubName: Full=HCG1642047;							133.0	107.0	115.0					2																	234775835		692	1591	2283			151507							g.chr2:234775835C>G	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775835C>G							p.E3Q	NR_024322						2	245	-									Missense_Mutation	SNP	ENST00000438684.1	37	c.7G>C																																																																																					0.383	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		4	32	0	0	0	0	4	32				
COL6A3	1293	broad.mit.edu	37	2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	rs115765346		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17997	0.001		0.0	False		,,,				2504	0.0					uc002vwl.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4603-4605)CGC>CAC		alpha 3 type VI collagen isoform 1 precursor							73.0	73.0	73.0					2																	238277502		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277502C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4604G>A	2.37:g.238277502C>T	ENSP00000295550:p.Arg1535His					COL6A3_uc002vwo.2_Missense_Mutation_p.R1329H|COL6A3_uc010znj.1_Missense_Mutation_p.R928H	p.R1535H	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4889	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1535			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4604G>A	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.90	3.722331	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000056	D	0.96390	0.8822	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97905	1.0305	10	0.87932	D	0	.	19.1091	0.93310	0.0:1.0:0.0:0.0	.	928;1329;1535	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1535;1334;1329;928;1329;1335	ENSP00000295550:R1535H;ENSP00000315609:R1334H;ENSP00000315873:R1329H;ENSP00000418285:R928H;ENSP00000386844:R1329H;ENSP00000295546:R1335H	ENSP00000295550:R1535H	R	-	2	0	COL6A3	237942241	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	CGC		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	65	0	0	0	0	11	65				
PLCB1	23236	broad.mit.edu	37	20	8719969	8719969	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr20:8719969T>C	ENST00000338037.6	+	21	2297	c.2270T>C	c.(2269-2271)aTt>aCt	p.I757T	PLCB1_ENST00000378637.2_Missense_Mutation_p.I757T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.I757T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	757	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTAAATTCATTGGCCACCGT	0.418																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2269-2271)ATT>ACT		phosphoinositide-specific phospholipase C beta 1							105.0	102.0	103.0					20																	8719969		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8719969T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2270T>C	20.37:g.8719969T>C	ENSP00000338185:p.Ile757Thr					PLCB1_uc010zrb.1_Missense_Mutation_p.I656T|PLCB1_uc002wna.2_Missense_Mutation_p.I757T|PLCB1_uc002wnc.1_Missense_Mutation_p.I656T|PLCB1_uc002wnd.1_Missense_Mutation_p.I334T	p.I757T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			21	2273	+			757			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2270T>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390321	0.82902	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.02	5.02	0.67125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.84082	2.675	0.80722	D	1	B;D	0.67145	0.258;0.996	B;D	0.74023	0.301;0.982	T	0.52162	-0.8612	10	0.87932	D	0	.	14.7716	0.69684	0.0:0.0:0.0:1.0	.	757;757	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	757;757;757;677;677;103;76	ENSP00000367908:I757T;ENSP00000338185:I757T;ENSP00000367904:I757T;ENSP00000391162:I76T	ENSP00000338185:I757T	I	+	2	0	PLCB1	8667969	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	7.969000	0.87988	1.901000	0.55032	0.528000	0.53228	ATT		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			13	69	0	0	0	0	13	69				
LTN1	26046	broad.mit.edu	37	21	30303556	30303556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:30303556G>A	ENST00000361371.5	-	29	5238	c.5159C>T	c.(5158-5160)tCa>tTa	p.S1720L	LTN1_ENST00000389194.2_Missense_Mutation_p.S1766L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1720					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTGAATGACTGAGAAACAGAT	0.363																																						uc002ymr.2		NA																	0					0						c.(5296-5298)TCA>TTA		zinc finger protein 294							149.0	142.0	144.0					21																	30303556		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30303556G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5159C>T	21.37:g.30303556G>A	ENSP00000354977:p.Ser1720Leu						p.S1766L	NM_015565	NP_056380	O94822	LTN1_HUMAN			29	5310	-			1720			RING-type.		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.5297C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.479934	0.96307	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.31510	1.49;1.5	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60016	-0.7345	10	0.66056	D	0.02	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	1720	O94822	LTN1_HUMAN	L	1766;1720	ENSP00000373846:S1766L;ENSP00000354977:S1720L	ENSP00000354977:S1720L	S	-	2	0	LTN1	29225427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.805000	0.96524	0.655000	0.94253	TCA		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		14	61	0	0	0	0	14	61				
TMEM50B	757	broad.mit.edu	37	21	34823152	34823152	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:34823152A>G	ENST00000542230.2	-	7	664	c.450T>C	c.(448-450)ttT>ttC	p.F150F	TMEM50B_ENST00000468874.2_5'Flank	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CGGTTCTTCCAAATTTGTAGA	0.348																																						uc002yrt.1		NA																	0				ovary(1)|skin(1)	2						c.(448-450)TTT>TTC		transmembrane protein 50B							100.0	101.0	101.0					21																	34823152		2203	4300	6503	SO:0001819	synonymous_variant	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34823152A>G	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.450T>C	21.37:g.34823152A>G						TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	p.F150F	NM_006134	NP_006125	P56557	TM50B_HUMAN			7	628	-			150					B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	c.450T>C	CCDS13625.1																																																																																				0.348	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			13	40	0	0	0	0	13	40				
DSCAM	1826	broad.mit.edu	37	21	41725414	41725414	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:41725414C>T	ENST00000400454.1	-	5	1389	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	304	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGGCCTATCACCTTAGCAG	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(910-912)GTG>GTA		Down syndrome cell adhesion molecule isoform							144.0	141.0	142.0					21																	41725414		2008	4177	6185	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41725414C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.912G>A	21.37:g.41725414C>T						DSCAM_uc002yyr.1_RNA	p.V304V	NM_001389	NP_001380	O60469	DSCAM_HUMAN			5	1364	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	304			Extracellular (Potential).|Ig-like C2-type 3.		O60468	Silent	SNP	ENST00000400454.1	37	c.912G>A	CCDS42929.1																																																																																				0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	152	0	0	0	0	28	152				
PRDM15	63977	broad.mit.edu	37	21	43221624	43221624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:43221624C>A	ENST00000269844.3	-	31	4410	c.4300G>T	c.(4300-4302)Gaa>Taa	p.E1434*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E1088*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E1105*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E1068*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.E1125*	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCGAGGCTTCCGGCTGGGGG	0.587																																						uc002yzq.1		NA																	0					0						c.(4300-4302)GAA>TAA		PR domain containing 15 isoform 1							99.0	84.0	89.0					21																	43221624		2203	4300	6503	SO:0001587	stop_gained	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221624C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4300G>T	21.37:g.43221624C>A	ENSP00000269844:p.Glu1434*					PRDM15_uc002yzo.2_Nonsense_Mutation_p.E1105*|PRDM15_uc002yzp.2_Nonsense_Mutation_p.E1125*|PRDM15_uc002yzr.1_Nonsense_Mutation_p.E1125*	p.E1434*	NM_022115	NP_071398	P57071	PRD15_HUMAN			31	4411	-			1434					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	ENST00000269844.3	37	c.4300G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	42	9.609433	0.99219	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.5668	15.9821	0.80116	0.0:1.0:0.0:0.0	.	.	.	.	X	1125;1105;1088;1068;1434	.	ENSP00000269844:E1434X	E	-	1	0	PRDM15	42094693	1.000000	0.71417	0.382000	0.26119	0.426000	0.31534	6.608000	0.74168	1.982000	0.57802	0.457000	0.33378	GAA		0.587	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		12	53	1	0	2.32e-09	2.5e-09	12	53				
NIPSNAP1	8508	broad.mit.edu	37	22	29966459	29966459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:29966459G>A	ENST00000216121.7	-	2	415	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	54					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ATCCTTCCGGGGATCCACTTT	0.542																																						uc003afx.3		NA																	1	Unknown(1)	p.?(1)	lung(1)	skin(1)	1						c.(160-162)CCC>CTC		nipsnap homolog 1							65.0	61.0	63.0					22																	29966459		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29966459G>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.161C>T	22.37:g.29966459G>A	ENSP00000216121:p.Pro54Leu					NIPSNAP1_uc011akp.1_Missense_Mutation_p.P34L	p.P54L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			2	234	-			54					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.161C>T	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053383	0.93793	.	.	ENSG00000184117	ENST00000216121	T	0.69435	-0.4	4.48	4.48	0.54585	.	0.049339	0.85682	D	0.000000	T	0.80188	0.4577	M	0.89287	3.02	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.52598	0.703;0.703	D	0.85542	0.1216	10	0.87932	D	0	-7.2698	17.3496	0.87320	0.0:0.0:1.0:0.0	.	34;54	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	L	54	ENSP00000216121:P54L	ENSP00000216121:P54L	P	-	2	0	NIPSNAP1	28296459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.489000	0.83994	0.456000	0.33151	CCC		0.542	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			5	24	0	0	0	0	5	24				
EP300	2033	broad.mit.edu	37	22	41531855	41531855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:41531855C>T	ENST00000263253.7	+	7	2786	c.1567C>T	c.(1567-1569)Caa>Taa	p.Q523*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	523					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAGGAGTTCAAACGCCGAG	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(1567-1569)CAA>TAA		E1A binding protein p300							147.0	142.0	144.0					22																	41531855		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41531855C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1567C>T	22.37:g.41531855C>T	ENSP00000263253:p.Gln523*						p.Q523*	NM_001429	NP_001420	Q09472	EP300_HUMAN			7	1962	+			523					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.1567C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	49	15.662356	0.99841	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.98	5.98	0.97165	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.7485	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	523	.	ENSP00000263253:Q523X	Q	+	1	0	EP300	39861801	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	5.624000	0.67764	2.835000	0.97688	0.650000	0.86243	CAA		0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	46	0	0	0	0	12	46				
SCUBE1	80274	broad.mit.edu	37	22	43610219	43610219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:43610219C>T	ENST00000360835.4	-	16	2056	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	644					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACACACTGGCCGAGCTCACCA	0.642																																						uc003bdt.1		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1930-1932)GGC>AGC		signal peptide, CUB domain, EGF-like 1							71.0	55.0	60.0					22																	43610219		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43610219C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1930G>A	22.37:g.43610219C>T	ENSP00000354080:p.Gly644Ser						p.G644S	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			16	2018	-		all_neural(38;0.0414)|Ovarian(80;0.07)	644					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1930G>A	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	c	2.887	-0.230503	0.05983	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.14640	2.49	3.81	-4.08	0.03963	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.498256	0.24325	N	0.039515	T	0.06280	0.0162	N	0.13198	0.31	0.54753	D	0.999989	B	0.06786	0.001	B	0.13407	0.009	T	0.34925	-0.9809	10	0.19147	T	0.46	.	11.8665	0.52496	0.0:0.1917:0.0:0.8083	.	644	Q8IWY4	SCUB1_HUMAN	S	644;274	ENSP00000354080:G644S	ENSP00000354080:G644S	G	-	1	0	SCUBE1	41940163	0.001000	0.12720	0.037000	0.18230	0.259000	0.26198	-0.050000	0.11904	-0.550000	0.06183	-0.309000	0.09137	GGC		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		3	48	0	0	0	0	3	48				
NISCH	11188	broad.mit.edu	37	3	52521429	52521429	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:52521429G>A	ENST00000479054.1	+	17	1993	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	NISCH_ENST00000345716.4_Missense_Mutation_p.E641K			Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ggaggaggatgaggaggagga	0.652																																						uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1921-1923)GAG>AAG		nischarin							42.0	40.0	41.0					3																	52521429		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521429G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1921G>A	3.37:g.52521429G>A	ENSP00000418232:p.Glu641Lys					NISCH_uc003ded.3_Missense_Mutation_p.E641K|NISCH_uc003dee.3_Missense_Mutation_p.E130K|NISCH_uc003deg.1_RNA	p.E641K	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	1993	+			641			Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1921G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295846	0.10622	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.07216	3.21;3.21	3.71	3.71	0.42584	.	1.591660	0.04530	N	0.386213	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27796	0.083	T	0.18524	-1.0334	10	0.48119	T	0.1	.	11.3465	0.49563	0.0:0.0:1.0:0.0	.	641	Q9Y2I1	NISCH_HUMAN	K	641	ENSP00000418232:E641K;ENSP00000339958:E641K	ENSP00000339958:E641K	E	+	1	0	NISCH	52496469	0.980000	0.34600	0.101000	0.21167	0.007000	0.05969	3.156000	0.50708	2.385000	0.81259	0.650000	0.86243	GAG		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		12	23	0	0	0	0	12	23				
ZBTB11	27107	broad.mit.edu	37	3	101370392	101370392	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:101370392C>A	ENST00000312938.4	-	11	3360	c.2780G>T	c.(2779-2781)cGa>cTa	p.R927L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					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(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGGAGTGTTCGAGCATCTAT	0.448																																						uc003dve.3		NA																	0				skin(1)	1						c.(2779-2781)CGA>CTA		zinc finger protein ZNF-U69274							120.0	118.0	119.0					3																	101370392		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370392C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2780G>T	3.37:g.101370392C>A	ENSP00000326200:p.Arg927Leu						p.R927L	NM_014415	NP_055230	O95625	ZBT11_HUMAN			11	3010	-			927			C2H2-type 12.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2780G>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735038	0.89482	.	.	ENSG00000066422	ENST00000312938	T	0.35789	1.29	5.81	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.24115	0.695	0.80722	D	1	P	0.51653	0.947	P	0.50590	0.645	T	0.22941	-1.0202	10	0.51188	T	0.08	-8.6101	16.6963	0.85336	0.0:0.8703:0.1296:0.0	.	927	O95625	ZBT11_HUMAN	L	927	ENSP00000326200:R927L	ENSP00000326200:R927L	R	-	2	0	ZBTB11	102853082	1.000000	0.71417	0.601000	0.28877	0.995000	0.86356	7.487000	0.81328	1.423000	0.47198	0.555000	0.69702	CGA		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		28	114	1	0	2.49e-11	2.7e-11	28	114				
C3orf30	152405	broad.mit.edu	37	3	118865322	118865322	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:118865322G>A	ENST00000295622.1	+	1	326	c.286G>A	c.(286-288)Gat>Aat	p.D96N	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	96										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAACCCTGCTGATGTTTCTGA	0.473																																						uc003ecb.1		NA																	0				ovary(2)	2						c.(286-288)GAT>AAT		hypothetical protein LOC152405							49.0	46.0	47.0					3																	118865322		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865322G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.286G>A	3.37:g.118865322G>A	ENSP00000295622:p.Asp96Asn					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D96N	p.D96N	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	326	+			96					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.286G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576645	0.00887	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.21031	2.03	2.91	-5.83	0.02325	.	.	.	.	.	T	0.05273	0.0140	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36089	-0.9762	9	0.20519	T	0.43	.	4.5666	0.12189	0.1428:0.1295:0.5985:0.1292	.	96;96	E9PFE5;Q96M34	.;CC030_HUMAN	N	96	ENSP00000295622:D96N	ENSP00000295622:D96N	D	+	1	0	C3orf30	120348012	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.735000	0.04888	-1.690000	0.01432	-1.447000	0.01057	GAT		0.473	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		5	31	0	0	0	0	5	31				
SLC15A2	6565	broad.mit.edu	37	3	121649690	121649690	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:121649690T>C	ENST00000489711.1	+	18	1945	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	SLC15A2_ENST00000295605.2_Silent_p.F488F|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	519					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCCTCAGGTTTGTTAACACTT	0.383																																						uc003eep.2		NA																	0				skin(1)	1						c.(1555-1557)TTT>TTC		peptide transporter 2 isoform a	Cefadroxil(DB01140)						124.0	119.0	121.0					3																	121649690		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121649690T>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1557T>C	3.37:g.121649690T>C						SLC15A2_uc011bjn.1_Silent_p.F488F	p.F519F	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	18	1710	+			519					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1557T>C	CCDS3007.1																																																																																				0.383	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		10	45	0	0	0	0	10	45				
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:126730864A>C	ENST00000393409.2	+	9	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T703P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	726					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652																																						uc003ejg.2		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2107-2109)ACC>CCC		plexin A1							85.0	78.0	80.0					3																	126730864		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126730864A>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2176A>C	3.37:g.126730864A>C	ENSP00000377061:p.Thr726Pro						p.T703P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	9	2111	+			726			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.2107A>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663159	0.47572	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	3.87	3.87	0.44632	.	0.092739	0.45606	D	0.000357	T	0.35393	0.0930	M	0.86178	2.8	0.50632	D	0.999887	D	0.89917	1.0	D	0.83275	0.996	T	0.30621	-0.9972	10	0.59425	D	0.04	.	12.8542	0.57876	1.0:0.0:0.0:0.0	.	726	Q9UIW2	PLXA1_HUMAN	P	726;703	ENSP00000377061:T726P;ENSP00000251772:T703P	ENSP00000251772:T703P	T	+	1	0	PLXNA1	128213554	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	4.282000	0.58971	1.633000	0.50488	0.402000	0.26972	ACC		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	26	0	0	0	0	6	26				
PIK3CB	5291	broad.mit.edu	37	3	138417818	138417818	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:138417818C>G	ENST00000477593.1	-	12	1774	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E567D|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E13D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	567	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GTGGGAAAATCTCTCGGCAGT	0.378																																						uc011bmq.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1699-1701)GAG>GAC		catalytic phosphatidylinositol 3-kinase beta							142.0	141.0	141.0					3																	138417818		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138417818C>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1701G>C	3.37:g.138417818C>G	ENSP00000418143:p.Glu567Asp					PIK3CB_uc011bmn.1_Missense_Mutation_p.E79D|PIK3CB_uc011bmo.1_Missense_Mutation_p.E13D|PIK3CB_uc011bmp.1_Missense_Mutation_p.E154D	p.E567D	NM_006219	NP_006210	P42338	PK3CB_HUMAN			11	1701	-			567			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1701G>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.554033|1.554033	0.27739|0.27739	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	5.91|5.91	3.33|3.33	0.38152|0.38152	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);|.	1.047410|.	0.07354|.	N|.	0.882922|.	T|T	0.30792|0.30792	0.0776|0.0776	N|N	0.05012|0.05012	-0.13|-0.13	0.53005|0.53005	D|D	0.99996|0.99996	B;B;B|.	0.11235|.	0.004;0.001;0.0|.	B;B;B|.	0.17979|.	0.02;0.006;0.001|.	T|T	0.06110|0.06110	-1.0845|-1.0845	10|5	0.22706|.	T|.	0.39|.	-23.9077|-23.9077	8.6204|8.6204	0.33857|0.33857	0.0:0.6614:0.0:0.3386|0.0:0.6614:0.0:0.3386	.|.	567;154;13|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	D|T	567;13;567|199	ENSP00000418143:E567D;ENSP00000438259:E13D;ENSP00000289153:E567D|.	ENSP00000289153:E567D|.	E|R	-|-	3|2	2|0	PIK3CB|PIK3CB	139900508|139900508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	0.750000|0.750000	0.26334|0.26334	1.163000|1.163000	0.42636|0.42636	0.460000|0.460000	0.39030|0.39030	GAG|AGA		0.378	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			21	104	0	0	0	0	21	104				
XRN1	54464	broad.mit.edu	37	3	142137436	142137436	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:142137436T>C	ENST00000264951.4	-	12	1373	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.E419G|XRN1_ENST00000544157.1_Missense_Mutation_p.E209G|XRN1_ENST00000463916.1_Missense_Mutation_p.E419G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	419					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCTTCAGTCTCATCTTCTAA	0.333																																						uc003eus.2		NA																	0				ovary(3)	3						c.(1255-1257)GAG>GGG		5'-3' exoribonuclease 1 isoform a							113.0	112.0	113.0					3																	142137436		2203	4297	6500	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142137436T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1256A>G	3.37:g.142137436T>C	ENSP00000264951:p.Glu419Gly					XRN1_uc003eut.2_Missense_Mutation_p.E419G|XRN1_uc003euu.2_Missense_Mutation_p.E419G|XRN1_uc003euv.1_Missense_Mutation_p.E280G|XRN1_uc003euw.2_Missense_Mutation_p.E419G|XRN1_uc011bnh.1_Missense_Mutation_p.E209G	p.E419G	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			12	1323	-			419					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1256A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596280	0.46318	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.49	5.49	0.81192	.	0.050792	0.85682	D	0.000000	T	0.73705	0.3621	L	0.51422	1.61	0.58432	D	0.999998	P;P;B;B;B	0.36392	0.551;0.493;0.01;0.018;0.017	B;B;B;B;B	0.41466	0.358;0.085;0.01;0.012;0.009	T	0.74284	-0.3715	10	0.45353	T	0.12	-15.8709	15.593	0.76554	0.0:0.0:0.0:1.0	.	209;419;280;419;419	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	G	419;419;419;209	ENSP00000264951:E419G;ENSP00000376707:E419G;ENSP00000418404:E419G;ENSP00000444310:E209G	ENSP00000264951:E419G	E	-	2	0	XRN1	143620126	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	8.008000	0.88588	2.073000	0.62155	0.383000	0.25322	GAG		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		7	32	0	0	0	0	7	32				
SI	6476	broad.mit.edu	37	3	164750459	164750459	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:164750459T>C	ENST00000264382.3	-	24	2649	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	863	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)	GATGAATGTGTGCACACAATA	0.333										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2587-2589)ACA>GCA		sucrase-isomaltase	Acarbose(DB00284)						113.0	104.0	107.0					3																	164750459		2202	4299	6501	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.chr3:164750459T>C	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.2587A>G	3.37:g.164750459T>C	ENSP00000264382:p.Thr863Ala	HNSCC(35;0.089)					p.T863A	NM_001041	NP_001032	P14410	SUIS_HUMAN			24	2649	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	863			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2587A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	2.882	-0.231559	0.05983	.	.	ENSG00000090402	ENST00000264382	D	0.88975	-2.45	4.88	2.51	0.30379	.	0.346287	0.28977	N	0.013524	T	0.80428	0.4621	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59198	-0.7499	10	0.08179	T	0.78	.	5.1335	0.14922	0.1627:0.0895:0.0:0.7478	.	863	P14410	SUIS_HUMAN	A	863	ENSP00000264382:T863A	ENSP00000264382:T863A	T	-	1	0	SI	166233153	0.088000	0.21588	0.037000	0.18230	0.404000	0.30871	0.567000	0.23608	0.962000	0.38057	0.533000	0.62120	ACA		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	64	0	0	0	0	6	64				
SERPINI1	5274	broad.mit.edu	37	3	167543055	167543055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:167543055C>T	ENST00000295777.5	+	9	1608	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.R393*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	393					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTCATGGGACGAGTCATGCA	0.318																																						uc003ffa.3		NA																	0				skin(1)	1						c.(1177-1179)CGA>TGA		neuroserpin precursor							121.0	124.0	123.0					3																	167543055		2203	4300	6503	SO:0001587	stop_gained	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167543055C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1177C>T	3.37:g.167543055C>T	ENSP00000295777:p.Arg393*					SERPINI1_uc003ffb.3_Nonsense_Mutation_p.R393*	p.R393*	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			9	1375	+			393					A8K217|D3DNP1|Q6AHZ4	Nonsense_Mutation	SNP	ENST00000295777.5	37	c.1177C>T	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.360161|8.360161	0.98777|0.98777	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	.|.	.|.	.|.	5.71|5.71	3.72|3.72	0.42706|0.42706	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62454	.|0.2429	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61113	.|-0.7128	.|4	0.02654|.	T|.	1|.	.|.	11.7337|11.7337	0.51752|0.51752	0.5652:0.4348:0.0:0.0|0.5652:0.4348:0.0:0.0	.|.	.|.	.|.	.|.	X|M	393;393;141|101	.|.	ENSP00000295777:R393X|.	R|T	+|+	1|2	2|0	SERPINI1|SERPINI1	169025749|169025749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	3.772000|3.772000	0.55325|0.55325	1.371000|1.371000	0.46172|0.46172	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.318	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			44	516	0	0	0	0	44	516				
TNIK	23043	broad.mit.edu	37	3	170800121	170800121	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:170800121T>C	ENST00000436636.2	-	27	3576	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	TNIK_ENST00000538048.1_Missense_Mutation_p.K1030E|TNIK_ENST00000341852.6_Missense_Mutation_p.K994E|TNIK_ENST00000460047.1_Missense_Mutation_p.K1015E|TNIK_ENST00000488470.1_Missense_Mutation_p.K1023E|TNIK_ENST00000369326.5_Missense_Mutation_p.K1056E|TNIK_ENST00000470834.1_Missense_Mutation_p.K1041E|TNIK_ENST00000475336.1_Missense_Mutation_p.K986E|TNIK_ENST00000284483.8_Missense_Mutation_p.K1070E|TNIK_ENST00000357327.5_Missense_Mutation_p.K1049E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1078	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTATAGACTTTGCCTTGCCCA	0.438																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3232-3234)AAA>GAA		TRAF2 and NCK interacting kinase isoform 1							94.0	92.0	92.0					3																	170800121		1941	4162	6103	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170800121T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3232A>G	3.37:g.170800121T>C	ENSP00000399511:p.Lys1078Glu					TNIK_uc003fhi.2_Missense_Mutation_p.K1023E|TNIK_uc003fhj.2_Missense_Mutation_p.K1049E|TNIK_uc003fhk.2_Missense_Mutation_p.K1070E|TNIK_uc003fhl.2_Missense_Mutation_p.K994E|TNIK_uc003fhm.2_Missense_Mutation_p.K1015E|TNIK_uc003fhn.2_Missense_Mutation_p.K1041E|TNIK_uc003fho.2_Missense_Mutation_p.K986E|TNIK_uc003fhg.2_Missense_Mutation_p.K256E|TNIK_uc003fhp.2_Missense_Mutation_p.K10E	p.K1078E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3577	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1078			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3232A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028495	0.93518	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	5.79	5.79	0.91817	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	L	0.38649	1.16	0.80722	D	1	D;D;P;D;D;P;P;D;P	0.58970	0.984;0.974;0.76;0.974;0.974;0.88;0.76;0.974;0.951	D;D;B;D;D;P;B;D;P	0.70487	0.924;0.969;0.316;0.969;0.969;0.639;0.437;0.969;0.809	T	0.00415	-1.1753	10	0.87932	D	0	.	16.1278	0.81406	0.0:0.0:0.0:1.0	.	1030;986;1041;1015;994;1070;1049;1023;1078	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	E	1078;1056;1030;994;1070;986;1049;1015;1023;1041	ENSP00000399511:K1078E;ENSP00000358332:K1056E;ENSP00000443278:K1030E;ENSP00000345352:K994E;ENSP00000284483:K1070E;ENSP00000418156:K986E;ENSP00000349880:K1049E;ENSP00000418916:K1015E;ENSP00000418378:K1023E;ENSP00000419990:K1041E	ENSP00000284483:K1070E	K	-	1	0	TNIK	172282815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	2.213000	0.71641	0.533000	0.62120	AAA		0.438	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	195	0	0	0	0	5	195				
TBL1XR1	79718	broad.mit.edu	37	3	176769363	176769363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:176769363C>T	ENST00000430069.1	-	5	615	c.356G>A	c.(355-357)aGc>aAc	p.S119N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S119N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	119					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCCTTGTTGGCTGGCTGCAGC	0.453																																						uc003fiw.3		NA																	0				ovary(1)	1						c.(355-357)AGC>AAC		transducin (beta)-like 1 X-linked receptor 1							69.0	68.0	68.0					3																	176769363		1846	4086	5932	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769363C>T	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.356G>A	3.37:g.176769363C>T	ENSP00000405574:p.Ser119Asn					TBL1XR1_uc003fix.3_Missense_Mutation_p.S119N|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.S119N	p.S119N	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	616	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	119					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.356G>A	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	0.540	-0.853932	0.02630	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421;ENST00000450267	T;T	0.52295	0.67;0.67	5.52	-0.144	0.13440	.	0.197752	0.53938	N	0.000053	T	0.29749	0.0743	L	0.43152	1.355	0.28724	N	0.902873	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.09843	T	0.71	-7.0023	6.0662	0.19864	0.0:0.1383:0.2548:0.6069	.	119	Q9BZK7	TBL1R_HUMAN	N	119;119;32;32;32;119;119;32;119	ENSP00000405574:S119N;ENSP00000413251:S119N	ENSP00000263964:S119N	S	-	2	0	TBL1XR1	178252057	0.969000	0.33509	0.468000	0.27192	0.092000	0.18411	0.792000	0.26929	-0.185000	0.10550	-0.455000	0.05494	AGC		0.453	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		13	290	0	0	0	0	13	290				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			73	123	0	0	0	0	73	123				
MFN1	55669	broad.mit.edu	37	3	179069808	179069808	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:179069808T>C	ENST00000471841.1	+	3	359	c.233T>C	c.(232-234)gTg>gCg	p.V78A	MFN1_ENST00000263969.5_Missense_Mutation_p.V78A|MFN1_ENST00000280653.7_Missense_Mutation_p.V78A	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	78	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CACATGAAGGTGGCATTTTTT	0.378																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(232-234)GTG>GCG		mitofusin 1							152.0	156.0	155.0					3																	179069808		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069808T>C	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.233T>C	3.37:g.179069808T>C	ENSP00000420617:p.Val78Ala					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V106A	p.V78A	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	359	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		78			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.233T>C	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479066	0.63849	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.057558	0.64402	D	0.000002	D	0.98692	0.9561	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.99804	1.1037	10	0.87932	D	0	-13.8988	15.2812	0.73787	0.0:0.0:0.0:1.0	.	106;78	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	A	78	ENSP00000420617:V78A;ENSP00000280653:V78A;ENSP00000419134:V78A;ENSP00000263969:V78A	ENSP00000263969:V78A	V	+	2	0	MFN1	180552502	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	GTG		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		67	368	0	0	0	0	67	368				
ATP13A4	84239	broad.mit.edu	37	3	193166024	193166024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:193166024G>C	ENST00000342695.4	-	18	2445	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.S689*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	708						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCCGGGCTGAGATGAGCTC	0.408																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(2122-2124)TCA>TGA		ATPase type 13A4							135.0	125.0	128.0					3																	193166024		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166024G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2123C>G	3.37:g.193166024G>C	ENSP00000339182:p.Ser708*					ATP13A4_uc003fte.1_Nonsense_Mutation_p.S708*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.S179*|ATP13A4_uc010hzi.2_RNA	p.S708*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2231	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		708			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.2123C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	40	8.184469	0.98693	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	.	.	.	4.84	4.84	0.62591	.	0.350120	0.24776	N	0.035700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.4553	12.7354	0.57220	0.0:0.1656:0.8344:0.0	.	.	.	.	X	689;708	.	ENSP00000339182:S708X	S	-	2	0	ATP13A4	194648718	0.232000	0.23762	1.000000	0.80357	0.995000	0.86356	1.571000	0.36450	2.381000	0.81170	0.650000	0.86243	TCA		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		12	176	0	0	0	0	12	176				
BDH1	622	broad.mit.edu	37	3	197241274	197241274	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:197241274G>A	ENST00000392378.2	-	6	733	c.423C>T	c.(421-423)ctC>ctT	p.L141L	BDH1_ENST00000358186.2_Silent_p.L141L|BDH1_ENST00000441275.1_Silent_p.L54L|BDH1_ENST00000392379.1_Silent_p.L141L	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	141					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CATTGTTAACGAGGCCCCACA	0.587																																						uc003fxr.2		NA																	0				ovary(1)	1						c.(421-423)CTC>CTT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						127.0	114.0	118.0					3																	197241274		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241274G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.423C>T	3.37:g.197241274G>A						BDH1_uc003fxs.2_Silent_p.L141L|BDH1_uc003fxt.2_Silent_p.L54L|BDH1_uc003fxu.2_Silent_p.L141L	p.L141L	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	825	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	141					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.423C>T	CCDS3328.1																																																																																				0.587	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		13	211	0	0	0	0	13	211				
FAM193A	8603	broad.mit.edu	37	4	2661312	2661312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:2661312G>A	ENST00000324666.5	+	7	895	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FAM193A_ENST00000505311.1_Missense_Mutation_p.E182K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E182K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E182K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E206K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	182										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGTTACTGGCGAGAACAACTT	0.453																																						uc010icl.2		NA																	0				ovary(3)	3						c.(544-546)GAG>AAG		hypothetical protein LOC8603							84.0	79.0	81.0					4																	2661312		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2661312G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.544G>A	4.37:g.2661312G>A	ENSP00000324587:p.Glu182Lys					FAM193A_uc010ick.2_Missense_Mutation_p.E382K|FAM193A_uc003gfd.2_Missense_Mutation_p.E182K|FAM193A_uc011bvm.1_Missense_Mutation_p.E206K|FAM193A_uc011bvn.1_Missense_Mutation_p.E182K|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E36K	p.E182K	NM_003704	NP_003695	P78312	F193A_HUMAN			7	895	+			182					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.544G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384372	0.95967	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.39787	1.24;1.64;1.23;1.26;1.06	5.82	5.82	0.92795	.	0.099868	0.64402	D	0.000002	T	0.54415	0.1857	L	0.47716	1.5	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.996;0.998	P;P;P;P;P	0.55965	0.788;0.788;0.788;0.666;0.788	T	0.53753	-0.8394	10	0.66056	D	0.02	-22.3148	19.0808	0.93180	0.0:0.0:1.0:0.0	.	182;206;182;206;182	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	182;182;182;206;36	ENSP00000372290:E182K;ENSP00000324587:E182K;ENSP00000443617:E182K;ENSP00000427505:E206K;ENSP00000427260:E36K	ENSP00000324587:E182K	E	+	1	0	FAM193A	2631110	1.000000	0.71417	0.952000	0.39060	0.762000	0.43233	9.268000	0.95675	2.745000	0.94114	0.561000	0.74099	GAG		0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		9	39	0	0	0	0	9	39				
KCTD8	386617	broad.mit.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667										HNSCC(17;0.042)																												uc003gwu.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(721-723)ATC>ATT		potassium channel tetramerisation domain							33.0	27.0	29.0					4																	44449818		2202	4298	6500	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449818G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.723C>T	4.37:g.44449818G>A		HNSCC(17;0.042)					p.I241I	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	1007	-			241					A2RU39	Silent	SNP	ENST00000360029.3	37	c.723C>T	CCDS3467.1																																																																																				0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	12	0	0	0	0	4	12				
SMAD1	4086	broad.mit.edu	37	4	146467854	146467854	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:146467854G>A	ENST00000515385.1	+	5	1317		c.e5-1		SMAD1_ENST00000302085.4_Splice_Site|SMAD1_ENST00000394092.2_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.?(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTTCCTCTAGATGTTCAGGC	0.448																																					Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e5-1		Sma- and Mad-related protein 1							165.0	161.0	162.0					4																	146467854		2203	4300	6503	SO:0001630	splice_region_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146467854G>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.776-1G>A	4.37:g.146467854G>A						SMAD1_uc003ikd.2_Splice_Site_p.D259_splice|SMAD1_uc010iov.2_Splice_Site_p.D259_splice|SMAD1_uc011cic.1_Splice_Site_p.D220_splice	p.D259_splice	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			5	1192	+	all_hematologic(180;0.151)							A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Splice_Site	SNP	ENST00000515385.1	37	c.776_splice	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854379	0.51270	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAD1	146687304	1.000000	0.71417	0.995000	0.50966	0.379000	0.30106	9.869000	0.99810	2.830000	0.97506	0.585000	0.79938	.		0.448	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	Intron	40	103	0	0	0	0	40	103				
POC5	134359	broad.mit.edu	37	5	74981280	74981280	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:74981280C>G	ENST00000428202.2	-	10	1348	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	POC5_ENST00000510798.1_Missense_Mutation_p.E270Q|POC5_ENST00000380475.2_Missense_Mutation_p.E270Q|POC5_ENST00000514838.2_Missense_Mutation_p.E359Q|POC5_ENST00000446329.2_Missense_Mutation_p.E362Q	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	387					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCATACTCTTCCTTTTTA	0.398																																						uc003keh.3		NA																	0				lung(1)	1						c.(1159-1161)GAG>CAG		proteome of centriole 5 isoform 1							172.0	179.0	177.0					5																	74981280		1912	4140	6052	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74981280C>G	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1159G>C	5.37:g.74981280C>G	ENSP00000410216:p.Glu387Gln					POC5_uc010izu.2_Missense_Mutation_p.E270Q|POC5_uc003keg.3_Missense_Mutation_p.E362Q	p.E387Q	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			10	1356	-			387					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1159G>C	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599909	0.66332	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.48836	1.86;1.47;0.8;0.8;1.86	4.36	4.36	0.52297	.	0.388964	0.31031	N	0.008399	T	0.63022	0.2476	M	0.78049	2.395	0.36361	D	0.860671	D;P;P	0.59767	0.986;0.89;0.948	P;P;P	0.58721	0.844;0.549;0.549	T	0.71652	-0.4528	10	0.52906	T	0.07	-19.785	12.7128	0.57100	0.0:1.0:0.0:0.0	.	270;387;362	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	Q	387;359;270;270;362	ENSP00000410216:E387Q;ENSP00000420971:E359Q;ENSP00000369842:E270Q;ENSP00000426796:E270Q;ENSP00000399481:E362Q	ENSP00000369842:E270Q	E	-	1	0	POC5	75017036	0.903000	0.30736	0.967000	0.41034	0.864000	0.49448	3.212000	0.51145	2.706000	0.92434	0.561000	0.74099	GAG		0.398	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		17	139	0	0	0	0	17	139				
CTNNA1	1495	broad.mit.edu	37	5	138145823	138145823	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:138145823C>G	ENST00000302763.7	+	4	488	c.398C>G	c.(397-399)tCt>tGt	p.S133C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S30C|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S133C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	133	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTTTGCTCTCTGCTGTTACC	0.478																																						uc003ldh.2		NA																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(397-399)TCT>TGT		catenin, alpha 1							118.0	114.0	115.0					5																	138145823		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138145823C>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.398C>G	5.37:g.138145823C>G	ENSP00000304669:p.Ser133Cys					CTNNA1_uc011cyx.1_Missense_Mutation_p.S30C|CTNNA1_uc011cyy.1_Missense_Mutation_p.S10C|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.S133C	p.S133C	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	493	+			133			Interaction with JUP and CTNNB1.|Involved in homodimerization.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.398C>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177780	0.94846	.	.	ENSG00000044115	ENST00000523912;ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.939;0.97	T	0.66432	-0.5925	9	.	.	.	-10.4564	19.2838	0.94063	0.0:1.0:0.0:0.0	.	133;133	G3XAM7;P35221	.;CTNA1_HUMAN	C	133;30;133;30;133;133;103;133;133;133	ENSP00000430304:S133C;ENSP00000347190:S30C;ENSP00000304669:S133C;ENSP00000430626:S30C;ENSP00000428457:S103C;ENSP00000430078:S133C;ENSP00000429457:S133C;ENSP00000427821:S133C	.	S	+	2	0	CTNNA1	138173722	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.715000	0.92844	0.655000	0.94253	TCT		0.478	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		28	62	0	0	0	0	28	62				
ANKHD1	54882	broad.mit.edu	37	5	139918552	139918552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:139918552C>T	ENST00000360839.2	+	33	7607	c.7453C>T	c.(7453-7455)Cag>Tag	p.Q2485*	ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q809*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q2485*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2485						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATCCTCAGCTTGCTGA	0.373																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(7453-7455)CAG>TAG		ANKHD1-EIF4EBP3 protein							91.0	84.0	86.0					5																	139918552		2203	4300	6503	SO:0001587	stop_gained	404734					cytoplasm|nucleus	RNA binding	g.chr5:139918552C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7453C>T	5.37:g.139918552C>T	ENSP00000354085:p.Gln2485*					ANKHD1_uc003lfr.2_Nonsense_Mutation_p.Q2485*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.Q1241*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.Q1140*|ANKHD1_uc010jfl.2_Nonsense_Mutation_p.Q861*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.Q630*	p.Q2485*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	7577	+			2485					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.7453C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.379691|6.379691	0.97520|0.97520	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.067381|.	0.64402|.	D|.	0.000006|.	.|T	.|0.80110	.|0.4563	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77539	.|-0.2550	.|3	0.51188|.	T|.	0.08|.	.|.	20.2192|20.2192	0.98319|0.98319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2485;2485;2502;1158;1015;809;2485;504|966;876	.|.	ENSP00000396882:Q504X|.	Q|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139898736|139898736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.498000|4.498000	0.60373|0.60373	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		20	75	0	0	0	0	20	75				
PCDHGA1	56114	broad.mit.edu	37	5	140710925	140710925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140710925C>T	ENST00000517417.1	+	1	674	c.674C>T	c.(673-675)aCc>aTc	p.T225I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T225I|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	225	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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCAGGGACCCTCAGAATT	0.507																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(673-675)ACC>ATC		protocadherin gamma subfamily A, 1 isoform 1							62.0	59.0	60.0					5																	140710925		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710925C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.674C>T	5.37:g.140710925C>T	ENSP00000431083:p.Thr225Ile					PCDHGA1_uc011dan.1_Missense_Mutation_p.T225I	p.T225I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	674	+			225			Extracellular (Potential).|Cadherin 2.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.674C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751592	0.49257	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56444	0.46;0.46	4.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.134947	0.33691	N	0.004649	T	0.69815	0.3153	H	0.96970	3.915	0.29426	N	0.860206	P;B	0.47910	0.902;0.285	B;P	0.44811	0.444;0.461	T	0.76410	-0.2969	10	0.72032	D	0.01	.	14.1088	0.65109	0.0:0.8484:0.1516:0.0	.	225;225	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	225	ENSP00000431083:T225I;ENSP00000367345:T225I	ENSP00000367345:T225I	T	+	2	0	PCDHGA1	140691109	0.854000	0.29725	0.874000	0.34290	0.860000	0.49131	2.046000	0.41260	1.123000	0.41961	0.655000	0.94253	ACC		0.507	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		16	49	0	0	0	0	16	49				
PCDHGA9	56107	broad.mit.edu	37	5	140782613	140782613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140782613C>T	ENST00000573521.1	+	1	94	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	32	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCAGATTCGCTACTCAGT	0.602																																						uc003lkh.1		NA																	0					0						c.(94-96)CGC>TGC		protocadherin gamma subfamily A, 9 isoform 1							53.0	63.0	60.0					5																	140782613		2095	4254	6349	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782613C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.94C>T	5.37:g.140782613C>T	ENSP00000460274:p.Arg32Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R32C	p.R32C	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	94	+			32			Cadherin 1.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.94C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		14	69	0	0	0	0	14	69				
DIAPH1	1729	broad.mit.edu	37	5	140903714	140903714	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140903714A>G	ENST00000398557.4	-	27	3797	c.3657T>C	c.(3655-3657)cgT>cgC	p.R1219R	DIAPH1_ENST00000518047.1_Silent_p.R1207R|DIAPH1_ENST00000520569.1_Silent_p.R1162R|DIAPH1_ENST00000253811.6_Silent_p.R1220R|DIAPH1_ENST00000398566.3_Silent_p.R1211R|DIAPH1_ENST00000389054.3_Silent_p.R1216R|DIAPH1_ENST00000398562.2_Silent_p.R1195R|DIAPH1_ENST00000389057.5_Silent_p.R1210R	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTACCTTGACGGGGCCCTC	0.532																																						uc003llb.3		NA																	0				skin(1)	1						c.(3655-3657)CGT>CGC		diaphanous 1 isoform 1							89.0	94.0	92.0					5																	140903714		2038	4189	6227	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140903714A>G	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3657T>C	5.37:g.140903714A>G						DIAPH1_uc011dbd.1_Silent_p.R113R|DIAPH1_uc003llc.3_Silent_p.R1210R	p.R1219R	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	3798	-			1219			DAD.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3657T>C	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278485	0.23307	.	.	ENSG00000131504	ENST00000448451	.	.	.	5.6	-5.23	0.02798	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	.	4.0004	0.09577	0.1588:0.4423:0.2841:0.1148	.	.	.	.	P	65	.	.	S	-	1	0	DIAPH1	140883898	0.003000	0.15002	0.990000	0.47175	0.904000	0.53231	-1.089000	0.03376	-0.419000	0.07439	-0.321000	0.08615	TCA		0.532	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		14	65	0	0	0	0	14	65				
PCDH1	5097	broad.mit.edu	37	5	141248480	141248480	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:141248480A>C	ENST00000394536.3	-	2	696	c.557T>G	c.(556-558)cTc>cGc	p.L186R	PCDH1_ENST00000456271.1_Missense_Mutation_p.L186R|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.L164R|PCDH1_ENST00000503492.1_Missense_Mutation_p.L186R|PCDH1_ENST00000287008.3_Missense_Mutation_p.L186R	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGGGGAAGAGTGAGCCGAT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	0				ovary(5)	5						c.(556-558)CTC>CGC		protocadherin 1 isoform 1 precursor							324.0	309.0	314.0					5																	141248480		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248480A>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.557T>G	5.37:g.141248480A>C	ENSP00000378043:p.Leu186Arg					PCDH1_uc003llp.2_Missense_Mutation_p.L186R|PCDH1_uc011dbf.1_Missense_Mutation_p.L164R	p.L186R	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	674	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	186			Extracellular (Potential).|Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.557T>G	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978785	0.18812	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.91	3.75	0.43078	Cadherin (3);Cadherin-like (1);	0.000000	0.46442	D	0.000285	T	0.40522	0.1120	N	0.11818	0.18	0.58432	D	0.999996	D;D	0.89917	0.983;1.0	P;D	0.85130	0.897;0.997	T	0.42783	-0.9431	10	0.02654	T	1	.	8.3291	0.32175	0.9051:0.0:0.0948:0.0	.	186;186	Q08174;Q08174-2	PCDH1_HUMAN;.	R	186;186;186;186;197;164	ENSP00000424667:L186R;ENSP00000287008:L186R;ENSP00000378043:L186R;ENSP00000403497:L186R;ENSP00000350122:L197R;ENSP00000438825:L164R	ENSP00000287008:L186R	L	-	2	0	PCDH1	141228664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	1.977000	0.57605	0.449000	0.29647	CTC		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		46	204	0	0	0	0	46	204				
GRIA1	2890	broad.mit.edu	37	5	153149822	153149822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:153149822G>A	ENST00000285900.5	+	13	2460	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	GRIA1_ENST00000518783.1_Missense_Mutation_p.R716Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R706Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R716Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R626Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R637Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	706					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGGATGATTCGAGTGAGGAAA	0.483																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(2116-2118)CGA>CAA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						135.0	121.0	126.0					5																	153149822		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149822G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2117G>A	5.37:g.153149822G>A	ENSP00000285900:p.Arg706Gln					GRIA1_uc003luy.3_Missense_Mutation_p.R706Q|GRIA1_uc003luz.3_Missense_Mutation_p.R611Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R626Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R637Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R716Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R716Q	p.R706Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2482	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	706			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2117G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108580	0.94292	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.997;0.999	T	0.77536	-0.2551	10	0.87932	D	0	.	18.1724	0.89751	0.0:0.0:1.0:0.0	.	716;716;626;706;706	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	706;706;626;660;706;639;637;716;716	ENSP00000285900:R706Q;ENSP00000427920:R626Q;ENSP00000339343:R706Q;ENSP00000427864:R639Q;ENSP00000442108:R637Q;ENSP00000428994:R716Q;ENSP00000415569:R716Q	ENSP00000285900:R706Q	R	+	2	0	GRIA1	153130015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.785000	0.85724	2.525000	0.85131	0.655000	0.94253	CGA		0.483	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			14	47	0	0	0	0	14	47				
RPP40	10799	broad.mit.edu	37	6	4998960	4998960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:4998960C>T	ENST00000380051.2	-	5	593	c.549G>A	c.(547-549)tgG>tgA	p.W183*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.W123*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.W160*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	183					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGTTTTATGCCAAGCCAAAA	0.299																																						uc003mwl.2		NA																	0					0						c.(547-549)TGG>TGA		ribonuclease P 40kDa subunit							39.0	41.0	40.0					6																	4998960		2186	4277	6463	SO:0001587	stop_gained	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4998960C>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.549G>A	6.37:g.4998960C>T	ENSP00000369391:p.Trp183*					RPP40_uc003mwm.2_Nonsense_Mutation_p.W160*	p.W183*	NM_006638	NP_006629	O75818	RPP40_HUMAN			5	584	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	183					Q5VX97|Q8WVK8	Nonsense_Mutation	SNP	ENST00000380051.2	37	c.549G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692203	0.88735	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	.	.	.	5.61	5.61	0.85477	.	0.211830	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-3.9594	18.6454	0.91408	0.0:1.0:0.0:0.0	.	.	.	.	X	183;160;123	.	ENSP00000317998:W160X	W	-	3	0	RPP40	4943959	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.524000	0.67105	2.630000	0.89119	0.650000	0.86243	TGG		0.299	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		4	21	0	0	0	0	4	21				
FARS2	10667	broad.mit.edu	37	6	5369231	5369231	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:5369231A>G	ENST00000324331.6	+	2	764	c.428A>G	c.(427-429)aAc>aGc	p.N143S	FARS2_ENST00000274680.4_Missense_Mutation_p.N143S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	143					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAGGGGGACAACTATTACCTG	0.567																																						uc010jnv.1		NA																	0					0						c.(427-429)AAC>AGC		phenylalanyl-tRNA synthetase 2 precursor	L-Phenylalanine(DB00120)						104.0	93.0	97.0					6																	5369231		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369231A>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.428A>G	6.37:g.5369231A>G	ENSP00000316335:p.Asn143Ser					FARS2_uc003mwr.2_Missense_Mutation_p.N143S|FARS2_uc003mws.1_Missense_Mutation_p.N143S	p.N143S	NM_006567	NP_006558	O95363	SYFM_HUMAN			2	764	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	143					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.428A>G	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842133	0.32513	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.53857	0.6;0.6	5.38	2.97	0.34412	Phenylalanyl-tRNA synthetase (1);	0.043954	0.85682	N	0.000000	T	0.27489	0.0675	N	0.17594	0.5	0.34632	D	0.719757	D	0.63046	0.992	P	0.53035	0.716	T	0.08722	-1.0708	10	0.28530	T	0.3	-7.9811	9.2297	0.37430	0.8514:0.0:0.1486:0.0	.	143	O95363	SYFM_HUMAN	S	143	ENSP00000274680:N143S;ENSP00000316335:N143S	ENSP00000274680:N143S	N	+	2	0	FARS2	5314230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.296000	0.59055	0.425000	0.26087	0.533000	0.62120	AAC		0.567	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		10	74	0	0	0	0	10	74				
RREB1	6239	broad.mit.edu	37	6	7229769	7229769	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:7229769G>A	ENST00000349384.6	+	10	1751	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	RREB1_ENST00000379933.3_Silent_p.S479S|RREB1_ENST00000379938.2_Silent_p.S479S|RREB1_ENST00000334984.6_Silent_p.S479S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	479					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGGCAGCCTCGGCTCCCCCTC	0.607																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1435-1437)TCG>TCA		ras responsive element binding protein 1 isoform							97.0	112.0	107.0					6																	7229769		2202	4300	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229769G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1437G>A	6.37:g.7229769G>A						RREB1_uc003mxb.2_Silent_p.S479S|RREB1_uc010jnx.2_Silent_p.S479S	p.S479S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1827	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	479					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1437G>A	CCDS34336.1																																																																																				0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			26	208	0	0	0	0	26	208				
MAK	4117	broad.mit.edu	37	6	10770373	10770373	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:10770373T>C	ENST00000313243.2	-	13	2070	c.1688A>G	c.(1687-1689)cAc>cGc	p.H563R	MAK_ENST00000354489.2_Missense_Mutation_p.H563R|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.H563R|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	563					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGTGCTAAGTGGATCCTCTG	0.398																																						uc003mzl.2		NA																	0				breast(2)|skin(1)	3						c.(1687-1689)CAC>CGC		male germ cell-associated kinase							141.0	131.0	134.0					6																	10770373		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10770373T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1688A>G	6.37:g.10770373T>C	ENSP00000313021:p.His563Arg					SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_RNA|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.H563R	p.H563R	NM_005906	NP_005897	P20794	MAK_HUMAN			12	1917	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	563					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1688A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645661	0.47258	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.71341	-0.56;-0.56	5.53	5.53	0.82687	.	0.110972	0.64402	D	0.000008	T	0.58177	0.2104	M	0.62723	1.935	0.80722	D	1	B	0.22683	0.073	B	0.26094	0.066	T	0.62478	-0.6846	10	0.51188	T	0.08	.	13.9004	0.63799	0.0:0.0:0.0:1.0	.	563	P20794	MAK_HUMAN	R	563	ENSP00000313021:H563R;ENSP00000346484:H563R	ENSP00000313021:H563R	H	-	2	0	MAK	10878359	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.399000	0.52586	2.106000	0.64143	0.455000	0.32223	CAC		0.398	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		17	90	0	0	0	0	17	90				
MLN	4295	broad.mit.edu	37	6	33768873	33768873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:33768873G>A	ENST00000430124.2	-	2	133	c.68C>T	c.(67-69)aCg>aTg	p.T23M	MLN_ENST00000507738.1_Missense_Mutation_p.T23M|MLN_ENST00000266003.5_Missense_Mutation_p.T23M	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	23					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAGGCTTCCGTCTGGGAGGC	0.577																																						uc003off.1		NA																	0					0						c.(67-69)ACG>ATG		motilin isoform 1 preproprotein							127.0	116.0	119.0					6																	33768873		2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768873G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.68C>T	6.37:g.33768873G>A	ENSP00000388825:p.Thr23Met					MLN_uc003ofg.1_Missense_Mutation_p.T23M|MLN_uc011drn.1_Missense_Mutation_p.T23M	p.T23M	NM_002418	NP_002409	P12872	MOTI_HUMAN			2	139	-			23					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.68C>T	CCDS4786.1	.	.	.	.	.	.	.	.	.	.	G	4.908	0.168763	0.09339	.	.	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.53423	0.62;0.62;0.62	4.78	1.99	0.26369	.	0.616256	0.15237	N	0.273104	T	0.21761	0.0524	M	0.76838	2.35	0.09310	N	0.999992	B;B;B	0.34181	0.44;0.44;0.44	B;B;B	0.20955	0.032;0.032;0.032	T	0.19745	-1.0296	10	0.87932	D	0	-3.2992	4.5371	0.12038	0.2745:0.1616:0.5639:0.0	.	23;23;23	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	M	23	ENSP00000388825:T23M;ENSP00000266003:T23M;ENSP00000425467:T23M	ENSP00000266003:T23M	T	-	2	0	MLN	33876851	0.836000	0.29430	0.382000	0.26119	0.024000	0.10985	1.030000	0.30153	0.229000	0.21039	0.563000	0.77884	ACG		0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			18	102	0	0	0	0	18	102				
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	rs201860401		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000373213.4_Missense_Mutation_p.A255V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000538893.1_Missense_Mutation_p.A416V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.0		0.001	False		,,,				2504	0.0					uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1246-1248)GCG>GTG		kinesin family member 6		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	115.0	116.0		1247	5.6	0.0	6		116	0,8600		0,0,4300	yes	missense	KIF6	NM_145027.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/815	39513399	1,13005	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513399G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1247C>T	6.37:g.39513399G>A	ENSP00000287152:p.Ala416Val					KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			11	1342	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1247C>T	CCDS4844.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.71|12.71	2.019617|2.019617	0.35606|0.35606	2.27E-4|2.27E-4	0.0|0.0	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72615|.	-0.65;-0.64;-0.47;-0.64;-0.67|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.62441|0.62441	0.2428|0.2428	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.46784|.	0.884;0.158;0.297;0.816|.	B;B;B;B|.	0.40506|.	0.331;0.147;0.095;0.124|.	T|T	0.60900|0.60900	-0.7171|-0.7171	9|5	0.28530|.	T|.	0.3|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;416;416;416|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	V|W	416;416;255;416;416|308	ENSP00000287152:A416V;ENSP00000362312:A416V;ENSP00000362309:A255V;ENSP00000362311:A416V;ENSP00000441435:A416V|.	ENSP00000287152:A416V|.	A|R	-|-	2|1	0|2	KIF6|KIF6	39621377|39621377	0.380000|0.380000	0.25131|0.25131	0.019000|0.019000	0.16419|0.16419	0.304000|0.304000	0.27724|0.27724	5.193000|5.193000	0.65120|0.65120	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		7	83	0	0	0	0	7	83				
LRFN2	57497	broad.mit.edu	37	6	40360590	40360590	+	Missense_Mutation	SNP	C	C	T	rs55706368		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:40360590C>T	ENST00000338305.6	-	3	2004	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	488	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACACAAGTCGTAGCCAGTC	0.597																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1462-1464)GAC>AAC		leucine rich repeat and fibronectin type III							43.0	41.0	42.0					6																	40360590		2203	4299	6502	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360590C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1462G>A	6.37:g.40360590C>T	ENSP00000345985:p.Asp488Asn						p.D488N	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	1927	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		488			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1462G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619338	0.87460	.	.	ENSG00000156564	ENST00000338305	T	0.55052	0.54	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.66506	2.035	0.80722	D	1	P	0.44478	0.836	P	0.52189	0.692	T	0.59936	-0.7360	10	0.54805	T	0.06	.	17.9744	0.89122	0.0:1.0:0.0:0.0	rs55706368	488	Q9ULH4	LRFN2_HUMAN	N	488	ENSP00000345985:D488N	ENSP00000345985:D488N	D	-	1	0	LRFN2	40468568	1.000000	0.71417	0.996000	0.52242	0.767000	0.43475	7.780000	0.85658	2.584000	0.87258	0.651000	0.88453	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		4	27	0	0	0	0	4	27				
CCDC129	223075	broad.mit.edu	37	7	31692184	31692184	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:31692184A>G	ENST00000407970.3	+	14	2914	c.2876A>G	c.(2875-2877)cAa>cGa	p.Q959R	CCDC129_ENST00000451887.2_Missense_Mutation_p.Q985R|CCDC129_ENST00000319386.3_Missense_Mutation_p.Q811R|CCDC129_ENST00000409210.1_Missense_Mutation_p.Q867R	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	959										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCTGCATCAATATAACTGG	0.468																																						uc003tcj.1		NA																	0					0						c.(2875-2877)CAA>CGA		coiled-coil domain containing 129							42.0	37.0	39.0					7																	31692184		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692184A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2876A>G	7.37:g.31692184A>G	ENSP00000384416:p.Gln959Arg					CCDC129_uc011kad.1_Missense_Mutation_p.Q969R|CCDC129_uc003tci.1_Missense_Mutation_p.Q810R|CCDC129_uc011kae.1_Missense_Mutation_p.Q985R|CCDC129_uc003tck.1_Missense_Mutation_p.Q867R	p.Q959R	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			14	3869	+			959					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2876A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.421	1.082921	0.20309	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18338	2.22;2.49;2.48;2.22	4.6	0.364	0.16124	.	0.462575	0.18431	N	0.141421	T	0.14184	0.0343	L	0.31926	0.97	0.09310	N	1	B;P;P;B	0.49635	0.013;0.926;0.926;0.052	B;P;P;B	0.49999	0.011;0.628;0.49;0.011	T	0.16276	-1.0408	10	0.22706	T	0.39	0.0	5.1703	0.15107	0.4551:0.3672:0.0:0.1777	.	985;969;959;811	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	R	811;959;985;969;867	ENSP00000313062:Q811R;ENSP00000384416:Q959R;ENSP00000395835:Q985R;ENSP00000387214:Q867R	ENSP00000313062:Q811R	Q	+	2	0	CCDC129	31658709	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	-0.159000	0.10056	0.294000	0.22547	0.459000	0.35465	CAA		0.468	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	16	0	0	0	0	3	16				
NRF1	4899	broad.mit.edu	37	7	129367082	129367082	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:129367082G>A	ENST00000393232.1	+	10	1342	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	NRF1_ENST00000393230.2_Splice_Site_p.E409K|NRF1_ENST00000353868.4_Splice_Site_p.E343K|NRF1_ENST00000223190.4_Splice_Site_p.E409K|NRF1_ENST00000539636.1_Splice_Site_p.E248K|NRF1_ENST00000393231.3_Splice_Site_p.E409K|NRF1_ENST00000311967.2_Splice_Site_p.E409K	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E409K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGCCCGCAGCGAAGCTGCCGC	0.577																																						uc003voz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1225-1227)GAA>AAA		nuclear respiratory factor 1							38.0	37.0	37.0					7																	129367082		2203	4300	6503	SO:0001630	splice_region_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129367082G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1224-1G>A	7.37:g.129367082G>A						NRF1_uc003vpa.2_Missense_Mutation_p.E409K|NRF1_uc011kpa.1_Missense_Mutation_p.E248K|NRF1_uc003vpb.2_Missense_Mutation_p.E409K	p.E409K	NM_005011	NP_005002	Q16656	NRF1_HUMAN			10	1342	+			409			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1225G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.581454	0.96565	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.34521	1.04	0.80722	D	1	D;D	0.63046	0.99;0.992	P;D	0.65443	0.603;0.935	T	0.64884	-0.6302	9	0.45353	T	0.12	2.2433	19.5674	0.95401	0.0:0.0:1.0:0.0	.	409;409	Q96AN2;Q16656	.;NRF1_HUMAN	K	409;343;248;409;409;409;409	.	ENSP00000223190:E409K	E	+	1	0	NRF1	129154318	1.000000	0.71417	0.983000	0.44433	0.777000	0.43975	9.151000	0.94674	2.873000	0.98535	0.561000	0.74099	GAA		0.577	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	Missense_Mutation	5	38	0	0	0	0	5	38				
POLR3D	661	broad.mit.edu	37	8	22106636	22106636	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:22106636C>T	ENST00000397802.4	+	6	950	c.735C>T	c.(733-735)ctC>ctT	p.L245L	POLR3D_ENST00000306433.4_Silent_p.L245L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	245					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCCAGGCCTCCCGAAGGATG	0.592																																						uc003xbl.2		NA																	0					0						c.(733-735)CTC>CTT		polymerase (RNA) III (DNA directed) polypeptide							52.0	52.0	52.0					8																	22106636		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106636C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.735C>T	8.37:g.22106636C>T						POLR3D_uc003xbm.2_Silent_p.L245L|POLR3D_uc011kze.1_Intron	p.L245L	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	7	818	+			245					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.735C>T	CCDS34858.1																																																																																				0.592	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		4	39	0	0	0	0	4	39				
ADAM32	203102	broad.mit.edu	37	8	39022696	39022696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:39022696G>A	ENST00000379907.4	+	9	941	c.814G>A	c.(814-816)Gat>Aat	p.D272N	ADAM32_ENST00000437682.2_Missense_Mutation_p.D279N|ADAM32_ENST00000519315.1_Missense_Mutation_p.D272N	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	272	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGCCTCATGATATTGCATA	0.289																																						uc003xmt.3		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(814-816)GAT>AAT		a disintegrin and metalloprotease domain 32							59.0	55.0	57.0					8																	39022696		1806	4061	5867	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39022696G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.814G>A	8.37:g.39022696G>A	ENSP00000369238:p.Asp272Asn					ADAM32_uc011lch.1_Missense_Mutation_p.D279N|ADAM32_uc003xmu.3_Missense_Mutation_p.D272N	p.D272N	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		9	1059	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	272			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.814G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127764	0.77549	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907;ENST00000399826	T;T;T	0.72615	-0.67;-0.67;2.26	4.91	4.91	0.64330	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.34628	N	0.003810	D	0.88115	0.6350	H	0.95224	3.64	0.38998	D	0.959294	D;D;D	0.76494	0.997;0.999;0.989	D;D;P	0.80764	0.986;0.994;0.897	D	0.92011	0.5618	10	0.87932	D	0	.	13.9547	0.64140	0.0:0.0:1.0:0.0	.	279;272;272	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	N	279;272;272;273	ENSP00000405978:D279N;ENSP00000429422:D272N;ENSP00000369238:D272N	ENSP00000369238:D272N	D	+	1	0	ADAM32	39141853	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.590000	0.53979	2.416000	0.81992	0.561000	0.74099	GAT		0.289	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		5	27	0	0	0	0	5	27				
RP1	6101	broad.mit.edu	37	8	55542592	55542592	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:55542592T>C	ENST00000220676.1	+	4	6298	c.6150T>C	c.(6148-6150)aaT>aaC	p.N2050N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2050					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGATTCAAATACACAAGACC	0.338																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(6148-6150)AAT>AAC		retinitis pigmentosa RP1 protein							75.0	77.0	76.0					8																	55542592		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542592T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6150T>C	8.37:g.55542592T>C						RP1_uc011ldy.1_Intron	p.N2050N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6298	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2050						Silent	SNP	ENST00000220676.1	37	c.6150T>C	CCDS6160.1																																																																																				0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	46	0	0	0	0	6	46				
MMP16	4325	broad.mit.edu	37	8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATCAAAGGCACGGCGAATAGC	0.368																																						uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(460-462)CGT>CAT		matrix metalloproteinase 16 isoform 1							112.0	101.0	104.0					8																	89180146		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180146C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.461G>A	8.37:g.89180146C>T	ENSP00000286614:p.Arg154His					MMP16_uc003yec.2_Missense_Mutation_p.R154H	p.R154H	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	743	-			154			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.461G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712891	0.96830	.	.	ENSG00000156103	ENST00000286614	T	0.23552	1.9	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65233	0.882;0.933	T	0.34054	-0.9844	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	154;154	P51512-2;P51512	.;MMP16_HUMAN	H	154	ENSP00000286614:R154H	ENSP00000286614:R154H	R	-	2	0	MMP16	89249262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	CGT		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		7	46	0	0	0	0	7	46				
PKHD1L1	93035	broad.mit.edu	37	8	110456922	110456922	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:110456922A>T	ENST00000378402.5	+	38	4928	c.4824A>T	c.(4822-4824)gaA>gaT	p.E1608D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1608	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCGTAGAAGAAAGTAGTG	0.358										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4822-4824)GAA>GAT		fibrocystin L precursor							191.0	189.0	190.0					8																	110456922		1866	4093	5959	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456922A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4824A>T	8.37:g.110456922A>T	ENSP00000367655:p.Glu1608Asp	HNSCC(38;0.096)					p.E1608D	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	4928	+			1608			Extracellular (Potential).|IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4824A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720559	0.30503	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	5.73	3.22	0.36961	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.366091	0.29053	N	0.013282	T	0.68007	0.2954	M	0.63428	1.95	0.21256	N	0.999744	B	0.25486	0.127	B	0.37989	0.262	T	0.53222	-0.8469	10	0.12766	T	0.61	.	2.8972	0.05694	0.6295:0.1488:0.0786:0.1431	.	1608	Q86WI1	PKHL1_HUMAN	D	1608	ENSP00000367655:E1608D	ENSP00000367655:E1608D	E	+	3	2	PKHD1L1	110526098	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	1.836000	0.39191	0.457000	0.26962	0.533000	0.62120	GAA		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		81	210	0	0	0	0	81	210				
CSMD3	114788	broad.mit.edu	37	8	113960032	113960032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:113960032C>T	ENST00000297405.5	-	9	1739	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G395R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G459R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G499R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	499	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCTGATCCGATTCTCTTC	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1495-1497)GGA>AGA		CUB and Sushi multiple domains 3 isoform 1							76.0	77.0	77.0					8																	113960032		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960032C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1495G>A	8.37:g.113960032C>T	ENSP00000297405:p.Gly499Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G459R|CSMD3_uc011lhx.1_Missense_Mutation_p.G395R	p.G499R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			9	1654	-			499			Extracellular (Potential).|Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1495G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285152	0.80803	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.82332	0.5014	M	0.86573	2.825	0.46849	D	0.999222	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84130	0.0411	10	0.49607	T	0.09	.	18.866	0.92292	0.0:1.0:0.0:0.0	.	395;499;459	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	459;499;395;499	ENSP00000345799:G459R;ENSP00000297405:G499R;ENSP00000412263:G395R;ENSP00000343124:G499R	ENSP00000297405:G499R	G	-	1	0	CSMD3	114029208	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.124000	0.77185	2.537000	0.85549	0.555000	0.69702	GGA		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	60	0	0	0	0	11	60				
DENND3	22898	broad.mit.edu	37	8	142178285	142178285	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:142178285G>A	ENST00000262585.2	+	13	1974	c.1696G>A	c.(1696-1698)Gtt>Att	p.V566I	DENND3_ENST00000519811.1_Missense_Mutation_p.V646I|DENND3_ENST00000424248.1_Missense_Mutation_p.V514I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	566					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAGGGCTCGTTTATCTGAT	0.522																																						uc003yvy.2		NA																	0				ovary(1)	1						c.(1696-1698)GTT>ATT		DENN/MADD domain containing 3							118.0	113.0	115.0					8																	142178285		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142178285G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1696G>A	8.37:g.142178285G>A	ENSP00000262585:p.Val566Ile					DENND3_uc010mep.2_Missense_Mutation_p.V527I|DENND3_uc003yvz.1_Missense_Mutation_p.V250I	p.V566I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	1974	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		566					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1696G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.529|1.529	-0.544839|-0.544839	0.04024|0.04024	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.13420	.|3.01;2.59;3.0	5.56|5.56	-1.46|-1.46	0.08800|0.08800	.|.	.|0.395482	.|0.29059	.|N	.|0.013267	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25351	.|0.076;0.124;0.076	.|B;B;B	.|0.13407	.|0.004;0.009;0.004	T|T	0.43988|0.43988	-0.9357|-0.9357	5|10	.|0.07644	.|T	.|0.81	-4.9508|-4.9508	7.7032|7.7032	0.28636|0.28636	0.4533:0.1121:0.4346:0.0|0.4533:0.1121:0.4346:0.0	.|.	.|646;514;566	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	H|I	570|566;514;646	.|ENSP00000262585:V566I;ENSP00000410594:V514I;ENSP00000428714:V646I	.|ENSP00000262585:V566I	R|V	+|+	2|1	0|0	DENND3|DENND3	142247467|142247467	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.477000|0.477000	0.33069|0.33069	0.475000|0.475000	0.22164|0.22164	-0.165000|-0.165000	0.10908|0.10908	0.462000|0.462000	0.41574|0.41574	CGT|GTT		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		14	152	0	0	0	0	14	152				
C9orf135	138255	broad.mit.edu	37	9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338																																						uc004ahl.2		NA																	0				ovary(1)	1						c.(664-666)ACT>ATT		hypothetical protein LOC138255							109.0	110.0	109.0					9																	72521027		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72521027C>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.665C>T	9.37:g.72521027C>T	ENSP00000366402:p.Thr222Ile					C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_Missense_Mutation_p.T114I|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	p.T222I	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN			6	730	+			222			Cytoplasmic (Potential).		A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.665C>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342347	0.24339	.	.	ENSG00000204711	ENST00000377197	.	.	.	6.17	4.29	0.51040	.	0.315193	0.27881	N	0.017472	T	0.43100	0.1232	L	0.48642	1.525	0.09310	N	0.999992	D	0.55605	0.972	P	0.50440	0.641	T	0.31475	-0.9942	9	0.52906	T	0.07	0.4936	9.0729	0.36504	0.0:0.7742:0.1466:0.0792	.	222	Q5VTT2	CI135_HUMAN	I	222	.	ENSP00000366402:T222I	T	+	2	0	C9orf135	71710847	0.017000	0.18338	0.015000	0.15790	0.023000	0.10783	0.574000	0.23714	1.586000	0.49944	0.655000	0.94253	ACT		0.338	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		12	64	0	0	0	0	12	64				
SLC44A1	23446	broad.mit.edu	37	9	108151336	108151336	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:108151336G>C	ENST00000374720.3	+	16	2220	c.1973G>C	c.(1972-1974)tGa>tCa	p.*658S	SLC44A1_ENST00000374724.1_Intron|SLC44A1_ENST00000374723.1_Intron|SLC44A1_ENST00000343170.7_Intron	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	0					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGTTCTGCTTGAACCTAGCCG	0.343																																						uc004bcn.2		NA																	0				breast(3)|ovary(1)	4						c.(1972-1974)TGA>TCA		CDW92 antigen	Choline(DB00122)						206.0	198.0	201.0					9																	108151336		2203	4300	6503	SO:0001578	stop_lost	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108151336G>C	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1973G>C	9.37:g.108151336G>C	ENSP00000363852:p.*658Serext*2					SLC44A1_uc010mtk.1_Intron|SLC44A1_uc004bco.1_Intron	p.*658S	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			16	2194	+			658					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonstop_Mutation	SNP	ENST00000374720.3	37	c.1973G>C	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157234	0.21454	.	.	ENSG00000070214	ENST00000374720	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1161	0.93340	0.0:0.0:1.0:0.0	.	.	.	.	S	658	.	.	X	+	2	2	SLC44A1	107191157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.948000	0.75965	2.581000	0.87130	0.563000	0.77884	TGA		0.343	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		33	149	0	0	0	0	33	149				
RGS3	5998	broad.mit.edu	37	9	116353615	116353615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:116353615G>T	ENST00000374140.2	+	22	3227	c.3018G>T	c.(3016-3018)atG>atT	p.M1006I	RGS3_ENST00000462143.1_Missense_Mutation_p.M327I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Missense_Mutation_p.M399I|RGS3_ENST00000343817.5_Missense_Mutation_p.M725I|RGS3_ENST00000374134.3_Missense_Mutation_p.M327I|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.M1006I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1006					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCGCAGATGAGCGGGGCTG	0.572																																						uc004bhq.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(3016-3018)ATG>ATT		regulator of G-protein signalling 3 isoform 6							93.0	82.0	86.0					9																	116353615		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353615G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3018G>T	9.37:g.116353615G>T	ENSP00000363255:p.Met1006Ile					RGS3_uc004bhs.2_Missense_Mutation_p.M896I|RGS3_uc004bht.2_Missense_Mutation_p.M725I|RGS3_uc010muy.2_Missense_Mutation_p.M399I|RGS3_uc004bhv.2_Missense_Mutation_p.M327I|RGS3_uc010muz.1_Missense_Mutation_p.M345I|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.M316I|RGS3_uc004bhx.2_Missense_Mutation_p.M327I|RGS3_uc004bhy.1_Missense_Mutation_p.M316I|RGS3_uc004bhz.2_Missense_Mutation_p.M348I|RGS3_uc004bia.2_5'Flank	p.M1006I	NM_144488	NP_652759	P49796	RGS3_HUMAN			22	3227	+			1006					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3018G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	6.856	0.527311	0.13066	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.76060	0.99;0.99;0.49;2.64;0.47;0.47;-0.99	4.95	4.05	0.47172	.	0.368258	0.27896	N	0.017408	T	0.61110	0.2321	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B;B	0.23735	0.001;0.09;0.001;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B	0.18263	0.001;0.021;0.003;0.002;0.003;0.001;0.001	T	0.57165	-0.7858	10	0.41790	T	0.15	.	10.612	0.45427	0.0908:0.0:0.9092:0.0	.	345;399;902;327;725;896;1006	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	I	1006;1006;725;399;174;327;327;172	ENSP00000363255:M1006I;ENSP00000259406:M1006I;ENSP00000340284:M725I;ENSP00000378141:M399I;ENSP00000420356:M327I;ENSP00000363249:M327I;ENSP00000417994:M172I	ENSP00000340284:M725I	M	+	3	0	RGS3	115393436	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	1.903000	0.39858	1.093000	0.41377	-0.263000	0.10527	ATG		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		8	52	1	0	3.1e-07	3.3e-07	8	52				
OR1J4	26219	broad.mit.edu	37	9	125282179	125282179	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:125282179A>G	ENST00000340750.1	+	1	760	c.760A>G	c.(760-762)Aca>Gca	p.T254A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTATTATGGCACAATTATTGG	0.493																																						uc011lyw.1		NA																	0					0						c.(760-762)ACA>GCA		olfactory receptor, family 1, subfamily J,							141.0	130.0	134.0					9																	125282179		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282179A>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.760A>G	9.37:g.125282179A>G	ENSP00000343521:p.Thr254Ala						p.T254A	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	760	+			254			Helical; Name=6; (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.760A>G	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735918	0.15574	.	.	ENSG00000239590	ENST00000340750	T	0.00253	8.43	5.54	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.219890	0.22219	N	0.062996	T	0.00210	0.0006	L	0.53729	1.69	0.09310	N	0.999991	B	0.14012	0.009	B	0.26969	0.075	T	0.34650	-0.9820	10	0.59425	D	0.04	.	8.7275	0.34478	0.6997:0.0:0.3003:0.0	.	254	Q8NGS1	OR1J4_HUMAN	A	254	ENSP00000343521:T254A	ENSP00000343521:T254A	T	+	1	0	OR1J4	124322000	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	-1.284000	0.02793	0.166000	0.19597	-0.296000	0.09543	ACA		0.493	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			16	70	0	0	0	0	16	70				
EHMT1	79813	broad.mit.edu	37	9	140657192	140657192	+	Missense_Mutation	SNP	C	C	T	rs562496442		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140657192C>T	ENST00000460843.1	+	10	1594	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	EHMT1_ENST00000334856.6_Missense_Mutation_p.R492W|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R523W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	523					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGCAGCTGCCGGATGGAAAC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21042	0.0		0.0	False		,,,				2504	0.001					uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(1567-1569)CGG>TGG		euchromatic histone-lysine N-methyltransferase 1							106.0	85.0	92.0					9																	140657192		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140657192C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1567C>T	9.37:g.140657192C>T	ENSP00000417980:p.Arg523Trp					EHMT1_uc004coa.2_Missense_Mutation_p.R523W|EHMT1_uc004cob.1_Missense_Mutation_p.R492W|FLJ40292_uc010nco.2_5'Flank	p.R523W	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	10	1604	+	all_cancers(76;0.164)		523					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1567C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836259	0.91117	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.74106	1.17;0.39;-0.81	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.87108	0.2183	10	0.87932	D	0	.	14.639	0.68708	0.147:0.853:0.0:0.0	.	523;492;523	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	W	492;492;523;523	ENSP00000334476:R492W;ENSP00000417328:R523W;ENSP00000417980:R523W	ENSP00000334476:R492W	R	+	1	2	EHMT1	139777013	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.660000	0.61511	1.184000	0.42957	0.655000	0.94253	CGG		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		8	36	0	0	0	0	8	36				
SMC1A	8243	broad.mit.edu	37	X	53426517	53426517	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:53426517G>A	ENST00000322213.4	-	16	2683	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	852					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTACCTTTTTGAGCTTTTCTA	0.363																																						uc004dsg.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2554-2556)CTC>CTT		structural maintenance of chromosomes 1A							217.0	181.0	193.0					X																	53426517		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53426517G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2556C>T	X.37:g.53426517G>A						SMC1A_uc011moe.1_Silent_p.L830L	p.L852L	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			16	2625	-			852			Potential.		O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.2556C>T	CCDS14352.1																																																																																				0.363	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		13	28	0	0	0	0	13	28				
WDR44	54521	broad.mit.edu	37	X	117527109	117527109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:117527109C>T	ENST00000254029.3	+	4	1096	c.701C>T	c.(700-702)gCa>gTa	p.A234V	WDR44_ENST00000371825.3_Missense_Mutation_p.A234V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.A209V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	234	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGTTCCAGCACGCCCACCT	0.517																																						uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(700-702)GCA>GTA		WD repeat domain 44 protein							116.0	108.0	111.0					X																	117527109		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527109C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.701C>T	X.37:g.117527109C>T	ENSP00000254029:p.Ala234Val					WDR44_uc004eqo.2_Missense_Mutation_p.A234V|WDR44_uc011mtr.1_Missense_Mutation_p.A209V|WDR44_uc010nqi.2_5'UTR	p.A234V	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			4	1126	+			234			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.701C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378841	0.82682	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.74842	-0.88;-0.3;-0.17	5.51	5.51	0.81932	.	0.061331	0.64402	D	0.000002	T	0.73079	0.3541	L	0.29908	0.895	0.41275	D	0.986874	P;P;P	0.44776	0.843;0.673;0.722	P;B;B	0.49887	0.625;0.327;0.164	T	0.71076	-0.4697	10	0.28530	T	0.3	-29.3049	18.4598	0.90735	0.0:1.0:0.0:0.0	.	209;234;234	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	V	209;234;234	ENSP00000360887:A209V;ENSP00000254029:A234V;ENSP00000360890:A234V	ENSP00000254029:A234V	A	+	2	0	WDR44	117411137	1.000000	0.71417	0.995000	0.50966	0.632000	0.37999	7.440000	0.80464	2.301000	0.77427	0.600000	0.82982	GCA		0.517	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		80	68	0	0	0	0	80	68				
AIFM1	9131	broad.mit.edu	37	X	129272623	129272623	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:129272623C>T	ENST00000287295.3	-	9	1142	c.912G>A	c.(910-912)acG>acA	p.T304T	AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000535724.1_Silent_p.T217T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000440263.1_5'Flank	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CACCGATAATCGTAATTGATT	0.433																																						uc004evg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(910-912)ACG>ACA		programmed cell death 8 isoform 1							126.0	115.0	119.0					X																	129272623		2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272623C>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.912G>A	X.37:g.129272623C>T						AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Silent_p.T304T|AIFM1_uc004evh.2_Silent_p.T300T|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.T304T	NM_004208	NP_004199	O95831	AIFM1_HUMAN			9	1090	-			304			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.912G>A	CCDS14618.1																																																																																				0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			51	35	0	0	0	0	51	35				
ARHGAP20	57569	broad.mit.edu	37	11	110450902	110450902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:110450902delA	ENST00000260283.4	-	16	3052	c.2768delT	c.(2767-2769)ttafs	p.L923fs	ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.L900fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.L466fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.L897fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	923					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTTGGGGGTAAAACCTTCTC	0.493																																						uc001pkz.1		NA																	0				ovary(3)|kidney(2)	5						c.(2767-2769)TTAfs		Rho GTPase activating protein 20							147.0	143.0	144.0					11																	110450902		2201	4298	6499	SO:0001589	frameshift_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450902delA	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2768delT	11.37:g.110450902delA	ENSP00000260283:p.Leu923fs					ARHGAP20_uc001pky.1_Frame_Shift_Del_p.L900fs|ARHGAP20_uc009yyb.1_Frame_Shift_Del_p.L887fs|ARHGAP20_uc001pla.1_Frame_Shift_Del_p.L887fs|ARHGAP20_uc001plb.2_Frame_Shift_Del_p.L466fs	p.L923fs	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3053	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	923					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Frame_Shift_Del	DEL	ENST00000260283.4	37	c.2768delT	CCDS31673.1																																																																																				0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		30	104	NA	NA	NA	NA	30	104	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185190964	185190964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:185190964delA	ENST00000265026.3	+	11	2179	c.1845delA	c.(1843-1845)tcafs	p.S615fs	MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.S408fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.S615fs	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGGAAAATTCACCCCATCCCA	0.532																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(1843-1845)TCAfs		mitogen-activated protein kinase kinase kinase							313.0	334.0	327.0					3																	185190964		2203	4300	6503	SO:0001589	frameshift_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190964delA	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1845delA	3.37:g.185190964delA	ENSP00000265026:p.Ser615fs					MAP3K13_uc011brt.1_Frame_Shift_Del_p.S408fs|MAP3K13_uc011bru.1_Frame_Shift_Del_p.S471fs|MAP3K13_uc003fpi.2_Frame_Shift_Del_p.S615fs|MAP3K13_uc010hyg.2_Frame_Shift_Del_p.S305fs	p.S615fs	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2111	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		615						Frame_Shift_Del	DEL	ENST00000265026.3	37	c.1845delA	CCDS3270.1																																																																																				0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		7	1226	NA	NA	NA	NA	7	1226	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)aatfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216							protein complex binding (GO:0032403)	p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463																																						uc011bsp.1		NA																	1	Deletion - Frameshift(1)		lung(1)		0						c.(646-648)AATfs		hypothetical protein LOC151963							160.0	147.0	151.0					3																	192517004		2203	4300	6503	SO:0001589	frameshift_variant	151963							g.chr3:192517004delT	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.647delA	3.37:g.192517004delT	ENSP00000376246:p.Asn216fs						p.N216fs	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	968	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		216					Q86VD8	Frame_Shift_Del	DEL	ENST00000392452.2	37	c.647delA	CCDS3302.2																																																																																				0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		8	383	NA	NA	NA	NA	8	383	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36882411	36882411	+	Frame_Shift_Del	DEL	T	T	-	rs557741034		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:36882411delT	ENST00000480824.2	+	6	931	c.637delT	c.(637-639)tttfs	p.F214fs	C6orf89_ENST00000355190.3_Frame_Shift_Del_p.F221fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000359359.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.F214fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	214					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTCTGAAGGGTTTTTCGCCAA	0.542																																						uc003omx.2		NA																	0				ovary(1)	1						c.(637-639)TTTfs		hypothetical protein LOC221477							177.0	186.0	183.0					6																	36882411		2203	4300	6503	SO:0001589	frameshift_variant	221477					integral to membrane		g.chr6:36882411delT	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.637delT	6.37:g.36882411delT	ENSP00000475947:p.Phe214fs					C6orf89_uc003omv.2_Frame_Shift_Del_p.F107fs|C6orf89_uc003omw.2_Frame_Shift_Del_p.F220fs|C6orf89_uc011dtr.1_Frame_Shift_Del_p.F107fs|C6orf89_uc003omy.2_Frame_Shift_Del_p.F47fs	p.F213fs	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			6	921	+			213					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Del	DEL	ENST00000480824.2	37	c.637delT																																																																																					0.542	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		7	326	NA	NA	NA	NA	7	326	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90426527	90426528	+	Splice_Site	DEL	CT	CT	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:90426527_90426528delCT	ENST00000369393.3	-	44	6699_6700	c.6584_6585delAG	c.(6583-6585)gag>g	p.E2195fs	MDN1_ENST00000428876.1_Splice_Site_p.E2195fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2195					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGGCAAACTCTGAAATGTC	0.421																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(6583-6585)GAGfs		MDN1, midasin homolog																																				SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426527_90426528delCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6584-1AG>-	6.37:g.90426529_90426530delCT							p.E2195fs	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6700_6701	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2195					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.6584_6585delAG	CCDS5024.1																																																																																				0.421	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Frame_Shift_Del	13	59	NA	NA	NA	NA	13	59	---	---	---	---
