#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
UBE2J2	118424	broad.mit.edu	37	1	1203256	1203256	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:1203256C>T	ENST00000349431.6	-	2	336	c.117G>A	c.(115-117)tcG>tcA	p.S39S	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Silent_p.S39S|UBE2J2_ENST00000400930.4_Silent_p.S39S|UBE2J2_ENST00000348298.7_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	39					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAGAATATTCGAAGGGAGGG	0.637																																						uc001adn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(115-117)TCG>TCA		ubiquitin conjugating enzyme E2, J2 isoform 3							158.0	172.0	167.0					1																	1203256		2203	4300	6503	SO:0001819	synonymous_variant	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1203256C>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.117G>A	1.37:g.1203256C>T						UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Silent_p.S39S|UBE2J2_uc001adp.2_Silent_p.S39S|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	p.S39S	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	2	427	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	39			Cytoplasmic (Potential).		A8MYC7|Q504T9|Q96N26|Q96T84	Silent	SNP	ENST00000349431.6	37	c.117G>A	CCDS14.1																																																																																				0.637	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1		NM_058167		15	205	0	0	0	0.020292	0	15	205		
LRRC47	57470	broad.mit.edu	37	1	3703763	3703763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:3703763C>A	ENST00000378251.1	-	2	754	c.727G>T	c.(727-729)Gag>Tag	p.E243*	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	243							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.E243*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACCATCTTCTCCAGGCGCTTG	0.632																																						uc001akx.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(727-729)GAG>TAG		leucine rich repeat containing 47							61.0	56.0	58.0					1																	3703763		2203	4300	6503	SO:0001587	stop_gained	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703763C>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.727G>T	1.37:g.3703763C>A	ENSP00000367498:p.Glu243*						p.E243*	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	755	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	243			LRR 7.		Q9ULN5	Nonsense_Mutation	SNP	ENST00000378251.1	37	c.727G>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462686	0.96240	.	.	ENSG00000130764	ENST00000378251	.	.	.	4.89	4.89	0.63831	.	0.171228	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-20.3848	17.1132	0.86681	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000367498:E243X	E	-	1	0	LRRC47	3693623	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.297000	0.78799	2.264000	0.75181	0.650000	0.86243	GAG		0.632	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1		NM_020710		16	47	1	0	6.94344e-10	0.006122	7.72835e-10	16	47		
ATP13A2	23400	broad.mit.edu	37	1	17316492	17316492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:17316492C>G	ENST00000326735.8	-	22	2452	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000452699.1_Missense_Mutation_p.D802H|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	807					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.D807H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCAGCCTGGTCAGGATCCTGG	0.647																																						uc001baa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2419-2421)GAC>CAC		ATPase type 13A2 isoform 1							23.0	27.0	26.0					1																	17316492		2202	4300	6502	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17316492C>G	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2419G>C	1.37:g.17316492C>G	ENSP00000327214:p.Asp807His					ATP13A2_uc001azz.1_5'UTR|ATP13A2_uc001bab.2_Missense_Mutation_p.D802H|ATP13A2_uc001bac.2_Intron	p.D807H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	22	2609	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	807			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2419G>C	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829864	0.32329	.	.	ENSG00000159363	ENST00000326735;ENST00000452699;ENST00000502418	D;D;D	0.97016	-3.07;-3.07;-4.21	4.8	3.84	0.44239	HAD-like domain (1);	2.066990	0.01486	N	0.016866	D	0.94305	0.8170	L	0.43923	1.385	0.09310	N	1	P;B	0.37573	0.6;0.021	B;B	0.38616	0.277;0.039	D	0.85345	0.1098	10	0.15499	T	0.54	-4.6437	10.3865	0.44143	0.3237:0.6763:0.0:0.0	.	802;807	Q6S9Z9;Q9NQ11	.;AT132_HUMAN	H	807;802;3	ENSP00000327214:D807H;ENSP00000413307:D802H;ENSP00000423065:D3H	ENSP00000327214:D807H	D	-	1	0	ATP13A2	17189079	0.016000	0.18221	0.251000	0.24312	0.343000	0.28985	0.421000	0.21280	2.496000	0.84212	0.561000	0.74099	GAC		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		7	17	0	0	0	0.001984	0	7	17		
LRRC41	10489	broad.mit.edu	37	1	46763283	46763283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:46763283C>T	ENST00000343304.6	-	3	594	c.309G>A	c.(307-309)tgG>tgA	p.W103*	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	103					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.W103*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAGTCGGCGCCAGATGGCCT	0.458																																						uc001cpn.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(307-309)TGG>TGA		MUF1 protein							100.0	96.0	97.0					1																	46763283		2203	4300	6503	SO:0001587	stop_gained	10489							g.chr1:46763283C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.309G>A	1.37:g.46763283C>T	ENSP00000343298:p.Trp103*					LRRC41_uc010omb.1_Nonsense_Mutation_p.W103*|LRRC41_uc001cpo.1_Nonsense_Mutation_p.W103*	p.W103*	NM_006369	NP_006360	Q15345	LRC41_HUMAN			3	353	-	Acute lymphoblastic leukemia(166;0.155)		103					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Nonsense_Mutation	SNP	ENST00000343304.6	37	c.309G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	37	6.296349	0.97453	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1332	17.8234	0.88657	0.0:1.0:0.0:0.0	.	.	.	.	X	103;81	.	ENSP00000343298:W103X	W	-	3	0	LRRC41	46535870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.736000	0.93811	0.591000	0.81541	TGG		0.458	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		11	43	0	0	0	0.010729	0	11	43		
SLC5A9	200010	broad.mit.edu	37	1	48697274	48697274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:48697274G>A	ENST00000438567.2	+	6	720	c.668G>A	c.(667-669)gGa>gAa	p.G223E	SLC5A9_ENST00000533824.1_Missense_Mutation_p.G244E|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000236495.5_Missense_Mutation_p.G248E|SLC5A9_ENST00000420136.2_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	223					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G241E(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTAGGGGGAGCCCTGGTC	0.537																																						uc001cro.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(667-669)GGA>GAA		solute carrier family 5 (sodium/glucose							94.0	83.0	87.0					1																	48697274		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48697274G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.668G>A	1.37:g.48697274G>A	ENSP00000401730:p.Gly223Glu					SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.G248E|SLC5A9_uc010omt.1_Missense_Mutation_p.G237E|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	p.G223E	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			6	720	+			223			Helical; (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.668G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	34	5.335323	0.95758	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.92858	-3.12;-3.12;-3.12	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99146	1.0857	10	0.87932	D	0	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	244;223;248	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	E	244;223;248	ENSP00000431900:G244E;ENSP00000401730:G223E;ENSP00000236495:G248E	ENSP00000236495:G248E	G	+	2	0	SLC5A9	48469861	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.751000	0.98889	2.769000	0.95229	0.563000	0.77884	GGA		0.537	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3		XM_117174		9	23	0	0	0	0.004482	0	9	23		
ALG6	29929	broad.mit.edu	37	1	63902557	63902557	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:63902557C>G	ENST00000371108.4	+	15	1695	c.1390C>G	c.(1390-1392)Cag>Gag	p.Q464E	ALG6_ENST00000263440.4_Missense_Mutation_p.Q466E|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	464					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.Q464E(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGATCCTCCTCAGAAACTACC	0.373																																						uc010oow.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1390-1392)CAG>GAG		dolichyl pyrophosphate Man9GlcNAc2							241.0	226.0	231.0					1																	63902557		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63902557C>G	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1390C>G	1.37:g.63902557C>G	ENSP00000360149:p.Gln464Glu					ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Missense_Mutation_p.Q211E	p.Q464E	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN			15	1695	+			464					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.1390C>G	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694489	0.03303	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.83755	-1.76;-1.76	5.36	1.02	0.19986	.	0.709994	0.14499	N	0.315888	T	0.46171	0.1379	N	0.21282	0.65	0.31153	N	0.705207	B;B	0.25007	0.116;0.0	B;B	0.24541	0.054;0.007	T	0.27054	-1.0085	10	0.02654	T	1	-28.2316	12.2156	0.54404	0.1244:0.5151:0.3606:0.0	.	211;466	B4DHV8;A2A2G4	.;.	E	464;466;211	ENSP00000360149:Q464E;ENSP00000263440:Q466E	ENSP00000263440:Q466E	Q	+	1	0	ALG6	63675145	0.886000	0.30341	0.989000	0.46669	0.941000	0.58515	0.509000	0.22707	0.011000	0.14865	-0.494000	0.04653	CAG		0.373	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2		NM_013339		31	126	0	0	0	0.015359	0	31	126		
LPHN2	23266	broad.mit.edu	37	1	82451025	82451025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:82451025C>G	ENST00000370728.1	+	23	4127	c.3482C>G	c.(3481-3483)tCa>tGa	p.S1161*	LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S1163*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S1161*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S1161*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S1086*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S1163*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S1176*			O95490	LPHN2_HUMAN	latrophilin 2	1161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.S1176*(1)|p.S1148*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATAGCACTTCAACACTTAAT	0.289																																						uc001dit.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3442-3444)TCA>TGA		latrophilin 2 precursor							91.0	94.0	93.0					1																	82451025		2203	4295	6498	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82451025C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3482C>G	1.37:g.82451025C>G	ENSP00000359763:p.Ser1161*					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S1148*|LPHN2_uc001div.2_Nonsense_Mutation_p.S1148*|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Nonsense_Mutation_p.S732*	p.S1148*	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	20	3624	+			1161			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.3443C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	47|47|47	13.055891|13.055891|13.055891	0.99716|0.99716|0.99716	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.|.	.|.|.	.|.|.	5.11|5.11|5.11	4.19|4.19|4.19	0.49359|0.49359|0.49359	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.65984|0.65984|.	0.2744|0.2744|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70557|0.70557|.	-0.4839|-0.4839|.	4|4|.	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	15.2552|15.2552|15.2552	0.73579|0.73579|0.73579	0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	L|E|X	166|1053|1086;1161;1161;1176;1176;1163;1148;1148;1148;1176;1163;1176;1161	.|.|.	.|.|ENSP00000271029:S1176X	F|Q|S	+|+|+	3|1|2	2|0|0	LPHN2|LPHN2|LPHN2	82223613|82223613|82223613	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	1.270000|1.270000|1.270000	0.44297|0.44297|0.44297	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	TTC|CAA|TCA		0.289	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		4	13	0	0	0	0.009096	0	4	13		
COL24A1	255631	broad.mit.edu	37	1	86252137	86252137	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:86252137C>G	ENST00000370571.2	-	48	4325	c.3959G>C	c.(3958-3960)aGa>aCa	p.R1320T	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1320T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1320	Collagen-like 15.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R1320T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCCGCCTCTGATGCCCTA	0.478																																						uc001dlj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3958-3960)AGA>ACA		collagen, type XXIV, alpha 1 precursor							64.0	65.0	65.0					1																	86252137		1818	4079	5897	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86252137C>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3959G>C	1.37:g.86252137C>G	ENSP00000359603:p.Arg1320Thr					COL24A1_uc001dli.2_Missense_Mutation_p.R456T|COL24A1_uc010osd.1_Missense_Mutation_p.R620T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.R1320T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	48	4001	-			1320			Collagen-like 15.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3959G>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225163	0.22457	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96396	-4.0;-3.17	5.25	0.566	0.17317	.	0.000000	0.36374	N	0.002636	D	0.82600	0.5072	L	0.33710	1.025	0.23095	N	0.998307	B;B	0.29378	0.243;0.018	B;B	0.30716	0.119;0.012	T	0.75833	-0.3178	10	0.14252	T	0.57	.	4.6188	0.12440	0.0:0.3732:0.1736:0.4532	.	1320;1320	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1320	ENSP00000359603:R1320T;ENSP00000392531:R1320T	ENSP00000359603:R1320T	R	-	2	0	COL24A1	86024725	0.997000	0.39634	0.997000	0.53966	0.989000	0.77384	0.218000	0.17622	0.200000	0.20447	0.460000	0.39030	AGA		0.478	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		11	34	0	0	0	0.008291	0	11	34		
HCN3	57657	broad.mit.edu	37	1	155252454	155252454	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155252454C>T	ENST00000368358.3	+	2	539	c.531C>T	c.(529-531)ctC>ctT	p.L177L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	177					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L177L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTTGACCTCATCTCTTCTA	0.607																																						uc001fjz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(529-531)CTC>CTT		hyperpolarization activated cyclic							93.0	83.0	86.0					1																	155252454		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252454C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.531C>T	1.37:g.155252454C>T						RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	p.L177L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	539	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		177			Helical; Name=Segment S3; (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.531C>T	CCDS1108.1																																																																																				0.607	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897		12	70	0	0	0	0.016723	0	12	70		
RUSC1	23623	broad.mit.edu	37	1	155292388	155292388	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155292388C>G	ENST00000368352.5	+	2	975	c.824C>G	c.(823-825)tCt>tGt	p.S275C	RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S275C|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	275					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.S275C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AAATTCGACTCTGGTTGGAAA	0.428																																						uc001fkj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(823-825)TCT>TGT		RUN and SH3 domain containing 1 isoform a							143.0	147.0	146.0					1																	155292388		1907	4103	6010	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292388C>G	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.824C>G	1.37:g.155292388C>G	ENSP00000357336:p.Ser275Cys					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S275C|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	p.S275C	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1053	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		275					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.824C>G	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697938	0.30142	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.48836	0.8;0.8	4.81	3.86	0.44501	.	1.186130	0.06274	N	0.696080	T	0.21267	0.0512	L	0.29908	0.895	0.28380	N	0.919607	P	0.40000	0.698	B	0.34038	0.174	T	0.10613	-1.0622	10	0.66056	D	0.02	-2.5272	12.1639	0.54119	0.1713:0.8287:0.0:0.0	.	275	Q9BVN2	RUSC1_HUMAN	C	275	ENSP00000357338:S275C;ENSP00000357336:S275C	ENSP00000357336:S275C	S	+	2	0	RUSC1	153559012	0.000000	0.05858	0.007000	0.13788	0.921000	0.55340	0.640000	0.24705	2.206000	0.71126	0.555000	0.69702	TCT		0.428	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				8	142	0	0	0	0.00308	0	8	142		
ATP1A4	480	broad.mit.edu	37	1	160156121	160156121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:160156121G>A	ENST00000368081.4	+	21	3496	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K	ATP1A4_ENST00000470705.1_Missense_Mutation_p.E145K	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1009				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.E1009K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCTATGATGAAATCAGAAA	0.557																																						uc001fve.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(3025-3027)GAA>AAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							233.0	233.0	233.0					1																	160156121		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160156121G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3025G>A	1.37:g.160156121G>A	ENSP00000357060:p.Glu1009Lys					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.E512K|ATP1A4_uc001fvh.2_Missense_Mutation_p.E145K	p.E1009K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3504	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		1009	ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).		Helical; (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.3025G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.948645	0.92660	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.97480	-4.4;-4.4	4.95	4.95	0.65309	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	H	0.97365	3.99	0.58432	D	0.999999	D	0.60575	0.988	D	0.69654	0.965	D	0.99278	1.0895	10	0.87932	D	0	.	15.8072	0.78524	0.0:0.0:1.0:0.0	.	1009	Q13733	AT1A4_HUMAN	K	1009;145	ENSP00000357060:E1009K;ENSP00000433094:E145K	ENSP00000357060:E1009K	E	+	1	0	ATP1A4	158422745	1.000000	0.71417	0.450000	0.26969	0.760000	0.43138	7.389000	0.79806	2.585000	0.87301	0.444000	0.29173	GAA		0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699		52	214	0	0	0	0.01441	0	52	214		
MYOC	4653	broad.mit.edu	37	1	171621749	171621749	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:171621749C>T	ENST00000037502.6	-	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	1					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.M1I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGAAGAACCTCATTGCAGAGG	0.612																																						uc001ghu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1-3)ATG>ATA		myocilin precursor							40.0	41.0	40.0					1																	171621749		2203	4300	6503	SO:0001582	initiator_codon_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621749C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.3G>A	1.37:g.171621749C>T	ENSP00000037502:p.Met1Ile					MYOC_uc010pmk.1_Missense_Mutation_p.M1I	p.M1I	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	25	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		1					B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.3G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582090	0.28180	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	D	0.82526	-1.62	5.0	3.1	0.35709	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53056	-0.8492	8	0.48119	T	0.1	.	7.9568	0.30047	0.0:0.8075:0.0:0.1925	.	1;1	B4DV44;Q99972	.;MYOC_HUMAN	I	1	ENSP00000037502:M1I	ENSP00000037502:M1I	M	-	3	0	MYOC	169888372	0.001000	0.12720	0.005000	0.12908	0.062000	0.15995	0.479000	0.22228	0.487000	0.27698	0.655000	0.94253	ATG		0.612	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2		NM_000261	Missense_Mutation	7	18	0	0	0	0.00308	0	7	18		
PLEKHA6	22874	broad.mit.edu	37	1	204228731	204228731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:204228731C>G	ENST00000272203.3	-	8	978	c.662G>C	c.(661-663)aGa>aCa	p.R221T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R241T|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	221	Pro-rich.							p.R221T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCAGGCCTTCTCTCTGCCTT	0.637																																						uc001hau.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(661-663)AGA>ACA		phosphoinositol 3-phosphate-binding protein-3							71.0	71.0	71.0					1																	204228731		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228731C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.662G>C	1.37:g.204228731C>G	ENSP00000272203:p.Arg221Thr					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.R221T	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	979	-	all_cancers(21;0.0222)|Breast(84;0.179)		221			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.662G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528186	0.27299	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10382	2.88;3.32	5.55	3.54	0.40534	.	0.406318	0.23033	N	0.052706	T	0.10252	0.0251	L	0.57536	1.79	0.28742	N	0.90194	B	0.27559	0.181	B	0.23419	0.046	T	0.17410	-1.0370	10	0.13853	T	0.58	-18.3011	9.3567	0.38171	0.0:0.7782:0.1435:0.0783	.	221	Q9Y2H5	PKHA6_HUMAN	T	221;241	ENSP00000272203:R221T;ENSP00000402046:R241T	ENSP00000272203:R221T	R	-	2	0	PLEKHA6	202495354	0.992000	0.36948	0.974000	0.42286	0.533000	0.34776	1.043000	0.30316	1.308000	0.44962	0.561000	0.74099	AGA		0.637	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935		14	56	0	0	0	0.004007	0	14	56		
RYR2	6262	broad.mit.edu	37	1	237881784	237881784	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:237881784G>A	ENST00000366574.2	+	73	10834	c.10517G>A	c.(10516-10518)cGa>cAa	p.R3506Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R3504Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R3490Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3506					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAAGTACGAGATATAATC	0.333																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10516-10518)CGA>CAA		cardiac muscle ryanodine receptor							70.0	66.0	67.0					1																	237881784		1846	4084	5930	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237881784G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10517G>A	1.37:g.237881784G>A	ENSP00000355533:p.Arg3506Gln					RYR2_uc010pxz.1_Missense_Mutation_p.R461Q	p.R3506Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		73	10637	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3506					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10517G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432207	0.83776	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96913	-4.17;-4.14;-4.17	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000050	D	0.93559	0.7944	L	0.41573	1.285	0.80722	D	1	D	0.55172	0.97	B	0.38712	0.28	D	0.93200	0.6591	10	0.39692	T	0.17	-6.7643	19.7518	0.96271	0.0:0.0:1.0:0.0	.	3506	Q92736	RYR2_HUMAN	Q	3506;3504;3490;461	ENSP00000355533:R3506Q;ENSP00000353174:R3504Q;ENSP00000443798:R3490Q	ENSP00000353174:R3504Q	R	+	2	0	RYR2	235948407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.164000	0.58190	2.662000	0.90505	0.650000	0.86243	CGA		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		9	17	0	0	0	0.004482	0	9	17		
HNRNPU	3192	broad.mit.edu	37	1	245017797	245017797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245017797C>G	ENST00000283179.9	-	14	2596	c.2433G>C	c.(2431-2433)tgG>tgC	p.W811C	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.W792C|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	811	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.W811C(1)|p.W792C(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCTTCTGACCCCAGAATTGCT	0.328																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2431-2433)TGG>TGC		heterogeneous nuclear ribonucleoprotein U							104.0	107.0	106.0					1																	245017797		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245017797C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2433G>C	1.37:g.245017797C>G	ENSP00000283179:p.Trp811Cys					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.W535C|HNRNPU_uc001iba.1_Missense_Mutation_p.W792C	p.W811C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		14	2651	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		811			Gly-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.2433G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261231	0.39995	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.48201	0.82;0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	N	0.16478	0.41	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.995;0.99	T	0.54450	-0.8292	10	0.37606	T	0.19	-5.668	20.8794	0.99867	0.0:1.0:0.0:0.0	.	792;811;535	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	C	792;811;736	ENSP00000393151:W792C;ENSP00000283179:W811C	ENSP00000283179:W811C	W	-	3	0	HNRNPU	243084420	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.333000	0.79214	2.941000	0.99782	0.655000	0.94253	TGG		0.328	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3		NM_031844		10	38	0	0	0	0.016723	0	10	38		
KIF26B	55083	broad.mit.edu	37	1	245809541	245809541	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245809541C>T	ENST00000407071.2	+	10	2657	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	KIF26B_ENST00000366518.4_Silent_p.V358V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	739	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.V739V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGGCAATGTCATCCTGGCTC	0.502																																						uc001ibf.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)	3						c.(2215-2217)GTC>GTT		kinesin family member 26B							79.0	82.0	81.0					1																	245809541		2131	4253	6384	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245809541C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2217C>T	1.37:g.245809541C>T						KIF26B_uc010pyq.1_Silent_p.V739V|KIF26B_uc001ibg.1_Silent_p.V357V|KIF26B_uc001ibh.1_5'UTR	p.V739V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		10	2657	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		739			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2217C>T	CCDS44342.1																																																																																				0.502	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		6	30	0	0	0	0.001168	0	6	30		
ARHGAP12	94134	broad.mit.edu	37	10	32098165	32098165	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:32098165G>A	ENST00000344936.2	-	17	2355	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	ARHGAP12_ENST00000311380.4_Silent_p.V655V|ARHGAP12_ENST00000396144.4_Silent_p.V702V|ARHGAP12_ENST00000375250.5_Silent_p.V677V|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Silent_p.V655V	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	707	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V707V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TACCATGATTGACTGCAAACC	0.343																																						uc001ivz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2119-2121)GTC>GTT		Rho GTPase activating protein 12							126.0	119.0	122.0					10																	32098165		2203	4300	6503	SO:0001819	synonymous_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32098165G>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2121C>T	10.37:g.32098165G>A						ARHGAP12_uc001ivy.1_Silent_p.V653V|ARHGAP12_uc009xls.2_Silent_p.V658V|ARHGAP12_uc001iwb.1_Silent_p.V700V|ARHGAP12_uc001iwc.1_Silent_p.V675V|ARHGAP12_uc009xlq.1_Silent_p.V628V|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR	p.V707V	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			17	2391	-		Prostate(175;0.0199)	707			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.2121C>T	CCDS7170.1																																																																																				0.343	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1				4	33	0	0	0	0.009096	0	4	33		
MAPK8	5599	broad.mit.edu	37	10	49633981	49633981	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49633981G>C	ENST00000374189.1	+	8	920	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.E247Q|MAPK8_ENST00000360332.3_Missense_Mutation_p.E247Q			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.E247Q(2)|p.E247*(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACCATGTCCTGAATTCATGAA	0.343																																						uc009xnz.2		NaN																	3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.E247*(1)	urinary_tract(2)|stomach(1)	central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(739-741)GAA>CAA		mitogen-activated protein kinase 8 isoform JNK1							122.0	111.0	115.0					10																	49633981		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49633981G>C	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.739G>C	10.37:g.49633981G>C	ENSP00000363304:p.Glu247Gln					MAPK8_uc001jgl.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgm.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgo.2_Missense_Mutation_p.E247Q|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.E247Q|MAPK8_uc010qgk.1_Missense_Mutation_p.E247Q|MAPK8_uc001jgp.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgq.2_Missense_Mutation_p.E247Q	p.E247Q	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	963	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	247			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.739G>C	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953552	0.92660	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045508	0.85682	D	0.000000	D	0.82513	0.5053	L	0.55103	1.725	0.80722	D	1	B;B;B;B	0.13594	0.002;0.003;0.008;0.002	B;B;B;B	0.19391	0.008;0.025;0.025;0.008	T	0.77253	-0.2656	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	247;247;247;247	P45983-2;P45983;A1L4K2;P45983-3	.;MK08_HUMAN;.;.	Q	247	ENSP00000363304:E247Q;ENSP00000363297:E247Q;ENSP00000363294:E247Q;ENSP00000353483:E247Q;ENSP00000363291:E247Q	ENSP00000353483:E247Q	E	+	1	0	MAPK8	49303987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GAA		0.343	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1				7	45	0	0	0	0.004482	0	7	45		
MAPK8	5599	broad.mit.edu	37	10	49634089	49634089	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49634089G>C	ENST00000374189.1	+	8	1028	c.847G>C	c.(847-849)Gac>Cac	p.D283H	MAPK8_ENST00000395611.3_Missense_Mutation_p.D207H|MAPK8_ENST00000374182.3_Missense_Mutation_p.D283H|MAPK8_ENST00000360332.3_Missense_Mutation_p.D283H			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.D283H(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTTCCCAGCTGACTCAGAACA	0.378																																						uc009xnz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(847-849)GAC>CAC		mitogen-activated protein kinase 8 isoform JNK1							108.0	105.0	106.0					10																	49634089		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49634089G>C	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.847G>C	10.37:g.49634089G>C	ENSP00000363304:p.Asp283His					MAPK8_uc001jgl.2_Missense_Mutation_p.D283H|MAPK8_uc001jgm.2_Missense_Mutation_p.D283H|MAPK8_uc001jgo.2_Missense_Mutation_p.D283H|MAPK8_uc009xoa.2_Missense_Mutation_p.D207H|MAPK8_uc001jgn.2_Missense_Mutation_p.D283H|MAPK8_uc010qgk.1_Missense_Mutation_p.D283H|MAPK8_uc001jgp.2_Missense_Mutation_p.D283H|MAPK8_uc001jgq.2_Missense_Mutation_p.D283H	p.D283H	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	1071	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	283			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.847G>C	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016297	0.93404	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	D;D;D;D;D;D	0.97575	-1.64;-1.64;-1.64;-1.64;-1.64;-4.44	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043539	0.85682	D	0.000000	D	0.97297	0.9116	L	0.28344	0.845	0.80722	D	1	D;B;B;B;B	0.76494	0.999;0.365;0.418;0.418;0.365	D;P;P;P;B	0.87578	0.998;0.488;0.622;0.622;0.367	D	0.98251	1.0493	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	207;283;283;283;283	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	H	283;283;283;283;283;207	ENSP00000363304:D283H;ENSP00000363297:D283H;ENSP00000363294:D283H;ENSP00000353483:D283H;ENSP00000363291:D283H;ENSP00000378974:D207H	ENSP00000353483:D283H	D	+	1	0	MAPK8	49304095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GAC		0.378	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1				4	61	0	0	0	0.001168	0	4	61		
CDK1	983	broad.mit.edu	37	10	62553724	62553724	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:62553724G>A	ENST00000395284.3	+	8	1027	c.885G>A	c.(883-885)aaG>aaA	p.K295K	CDK1_ENST00000316629.4_Silent_p.K238K|CDK1_ENST00000373809.2_Silent_p.K238K|CDK1_ENST00000448257.2_Silent_p.K295K	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	295					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.K295K(1)		ovary(1)	1						ATCAGATTAAGAAGATGTAGC	0.294																																						uc001jld.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(883-885)AAG>AAA		cell division cycle 2 isoform 1							72.0	75.0	74.0					10																	62553724		2202	4290	6492	SO:0001819	synonymous_variant	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62553724G>A	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.885G>A	10.37:g.62553724G>A						CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Silent_p.K295K|CDK1_uc001jlg.2_Silent_p.K238K	p.K295K	NM_001786	NP_001777	P06493	CDK1_HUMAN			8	1019	+			295					A8K7C4|C9J497|O60764	Silent	SNP	ENST00000395284.3	37	c.885G>A	CCDS44408.1																																																																																				0.294	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2		NM_001786		7	34	0	0	0	0.004482	0	7	34		
TMEM26	219623	broad.mit.edu	37	10	63170341	63170341	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:63170341G>A	ENST00000399298.3	-	6	1214	c.846C>T	c.(844-846)atC>atT	p.I282I	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	282						integral component of membrane (GO:0016021)		p.I282I(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCATCTGATTGATCACTTTGA	0.507																																						uc001jlo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(844-846)ATC>ATT		transmembrane protein 26							91.0	96.0	94.0					10																	63170341		2111	4224	6335	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170341G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.846C>T	10.37:g.63170341G>A						TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	p.I282I	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			6	1215	-	Prostate(12;0.0112)		282			Helical; (Potential).		Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.846C>T	CCDS41530.1																																																																																				0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1		NM_178505		7	16	0	0	0	0.004482	0	7	16		
ACTA2	59	broad.mit.edu	37	10	90697972	90697972	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:90697972G>T	ENST00000458208.1	-	8	1310	c.836C>A	c.(835-837)aCc>aAc	p.T279N	ACTA2_ENST00000224784.6_Missense_Mutation_p.T279N|ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	279					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.T279N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTTGTAGGTGGTTTCATGGAT	0.493																																						uc001kfp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(835-837)ACC>AAC		alpha 2 actin							241.0	206.0	218.0					10																	90697972		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90697972G>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.836C>A	10.37:g.90697972G>T	ENSP00000402373:p.Thr279Asn					STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.T234N|ACTA2_uc001kfq.2_Missense_Mutation_p.T279N|uc001kfo.1_RNA	p.T279N	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	8	952	-		Colorectal(252;0.0161)	279					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.836C>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094405	0.56075	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94613	-3.47;-3.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.88377	2.95	0.80722	D	1	B	0.23316	0.083	P	0.45538	0.484	D	0.95577	0.8643	10	0.87932	D	0	.	19.2285	0.93827	0.0:0.0:1.0:0.0	.	279	P62736	ACTA_HUMAN	N	279;279;234	ENSP00000224784:T279N;ENSP00000402373:T279N	ENSP00000224784:T279N	T	-	2	0	ACTA2	90687952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	ACC		0.493	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1		NM_001613		12	86	1	0	9.31168e-06	0.016723	9.93246e-06	12	86		
GANAB	23193	broad.mit.edu	37	11	62393546	62393547	+	Nonsense_Mutation	DNP	GG	GG	AA	rs531070731		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:62393546_62393547GG>AA	ENST00000356638.3	-	23	2731_2732	c.2715_2716CC>TT	c.(2713-2718)ctCCag>ctTTag	p.Q906*	GANAB_ENST00000346178.4_Nonsense_Mutation_p.Q928*|GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q809*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q814*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	906					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.L905L(1)|p.L905>?(1)|p.Q906*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CCTTTTGTCTGGAGTACCACAG	0.554																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	3	Substitution - Nonsense(1)|Complex(1)|Substitution - coding silent(1)		urinary_tract(3)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2713-2718)CTCCAG>CTTTAG		neutral alpha-glucosidase AB isoform 2																																				SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393546_62393547GG>AA	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2715_2716delinsAA	11.37:g.62393546_62393547delinsAA	ENSP00000349053:p.Gln906*					GANAB_uc001ntz.2_Nonsense_Mutation_p.Q93*|GANAB_uc001nua.2_Nonsense_Mutation_p.Q928*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q809*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q814*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q792*	p.Q906*	NM_198334	NP_938148	Q14697	GANAB_HUMAN			23	2748_2749	-			906					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	DNP	ENST00000356638.3	37	c.2715_2716CC>TT	CCDS8026.1																																																																																				0.554	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		11	356	0	0	0	0.004672	0	11	356		
ATL3	25923	broad.mit.edu	37	11	63403040	63403040	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:63403040C>G	ENST00000398868.3	-	10	1277	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Missense_Mutation_p.G361A|ATL3_ENST00000538786.1_Missense_Mutation_p.G316A	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	334					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.G334A(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CAGATCTTCTCCTTGATAAAT	0.303											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nxk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1000-1002)GGA>GCA		atlastin 3							123.0	112.0	116.0					11																	63403040		1844	4097	5941	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63403040C>G		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1001G>C	11.37:g.63403040C>G	ENSP00000381844:p.Gly334Ala		OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1068	ATL3_uc010rms.1_Missense_Mutation_p.G316A|ATL3_uc010rmr.1_5'UTR	p.G334A	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN			10	1277	-			334			Cytoplasmic.		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1001G>C	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249656	0.80024	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.55413	0.52;0.52;0.52	4.78	4.78	0.61160	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.91459	3.21	0.80722	D	1	P	0.37781	0.608	P	0.49085	0.6	T	0.79122	-0.1933	10	0.87932	D	0	-11.8753	15.6832	0.77388	0.0:1.0:0.0:0.0	.	334	Q6DD88	ATLA3_HUMAN	A	334;361;316	ENSP00000381844:G334A;ENSP00000329034:G361A;ENSP00000437593:G316A	ENSP00000329034:G361A	G	-	2	0	ATL3	63159616	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.800000	0.85949	2.356000	0.79943	0.650000	0.86243	GGA		0.303	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1		NM_015459		3	50	0	0	0	0.004672	0	3	50		
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	G	A	rs368973734		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:65161533G>A	ENST00000317568.5	+	5	540	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	FRMD8_ENST00000355991.5_Missense_Mutation_p.R70Q|FRMD8_ENST00000416776.2_Missense_Mutation_p.R92Q	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.R126Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGCAGTTCCGAAGGAACGTG	0.672																																						uc001odu.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(1)|pancreas(1)	2						c.(376-378)CGA>CAA		FERM domain containing 8		G	GLN/ARG	0,4402		0,0,2201	58.0	46.0	50.0		377	4.0	1.0	11		50	1,8593	1.2+/-3.3	0,1,4296	no	missense	FRMD8	NM_031904.3	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	126/465	65161533	1,12995	2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65161533G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.377G>A	11.37:g.65161533G>A	ENSP00000319726:p.Arg126Gln					FRMD8_uc009yqj.2_Missense_Mutation_p.R70Q|FRMD8_uc010rof.1_Missense_Mutation_p.R92Q	p.R126Q	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			5	569	+			126			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.377G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507396	0.64410	0.0	1.16E-4	ENSG00000126391	ENST00000317568;ENST00000533782;ENST00000355991;ENST00000416776;ENST00000526201	D;D;D;D	0.87966	-2.32;-1.53;-1.69;-2.26	4.94	4.02	0.46733	Band 4.1 domain (1);FERM domain (1);	0.078506	0.51477	D	0.000092	D	0.86744	0.6006	L	0.43646	1.37	0.39623	D	0.970061	D;D;P	0.71674	0.998;0.979;0.844	P;P;B	0.56823	0.807;0.638;0.061	D	0.83726	0.0195	10	0.20046	T	0.44	-17.3012	11.5479	0.50704	0.0913:0.0:0.9087:0.0	.	92;70;126	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	Q	126;70;70;92;84	ENSP00000319726:R126Q;ENSP00000435913:R70Q;ENSP00000348270:R70Q;ENSP00000392111:R92Q	ENSP00000319726:R126Q	R	+	2	0	FRMD8	64918109	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.362000	0.66098	2.310000	0.77875	0.555000	0.69702	CGA		0.672	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1		NM_031904		11	30	0	0	0	0.016723	0	11	30		
RNF169	254225	broad.mit.edu	37	11	74547657	74547657	+	Missense_Mutation	SNP	G	G	A	rs192609539	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:74547657G>A	ENST00000299563.4	+	6	2022	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	670					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.R670Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGAAGACCGACAGTTGGCT	0.552													G|||	5	0.000998403	0.0	0.0	5008	,	,		18651	0.005		0.0	False		,,,				2504	0.0					uc001ovl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2008-2010)CGA>CAA		ring finger protein 169							78.0	81.0	80.0					11																	74547657		1962	4137	6099	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547657G>A	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.2009G>A	11.37:g.74547657G>A	ENSP00000299563:p.Arg670Gln					XRRA1_uc001ovm.2_Intron	p.R670Q	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			6	2022	+			670					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.2009G>A	CCDS41691.1	4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.006993006993006993|0.006993006993006993	0|0	0.0|0.0	G|G	12.35|12.35	1.911049|1.911049	0.33721|0.33721	.|.	.|.	ENSG00000166439|ENSG00000166439	ENST00000527301|ENST00000299563	.|T	.|0.54479	.|0.57	5.53|5.53	3.64|3.64	0.41730|0.41730	.|.	.|0.211078	.|0.36338	.|N	.|0.002657	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.29037	.|0.231	.|B	.|0.14023	.|0.01	T|T	0.16217|0.16217	-1.0410|-1.0410	5|10	.|0.41790	.|T	.|0.15	-6.4608|-6.4608	7.2913|7.2913	0.26368|0.26368	0.2739:0.0:0.7261:0.0|0.2739:0.0:0.7261:0.0	.|.	.|670	.|Q8NCN4	.|RN169_HUMAN	N|Q	41|670	.|ENSP00000299563:R670Q	.|ENSP00000299563:R670Q	D|R	+|+	1|2	0|0	RNF169|RNF169	74225305|74225305	1.000000|1.000000	0.71417|0.71417	0.807000|0.807000	0.32361|0.32361	0.990000|0.990000	0.78478|0.78478	4.206000|4.206000	0.58473|0.58473	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.552	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886		13	57	0	0	0	0.016723	0	13	57		
C11orf30	56946	broad.mit.edu	37	11	76175124	76175124	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:76175124G>A	ENST00000529032.1	+	6	831	c.831G>A	c.(829-831)aaG>aaA	p.K277K	C11orf30_ENST00000525919.1_Splice_Site_p.K278K|C11orf30_ENST00000524490.1_Splice_Site_p.K278K|C11orf30_ENST00000343878.3_Splice_Site_p.K277K|C11orf30_ENST00000525038.1_Splice_Site_p.K292K|C11orf30_ENST00000334736.3_Splice_Site_p.K277K|C11orf30_ENST00000533248.1_Splice_Site_p.K291K|C11orf30_ENST00000524767.1_Splice_Site_p.K292K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	277	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K277K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAACACAGAAGGTATGTGGTG	0.423																																						uc001oxl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(829-831)AAG>AAA		EMSY protein							104.0	84.0	91.0					11																	76175124		2200	4292	6492	SO:0001630	splice_region_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76175124G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.831+1G>A	11.37:g.76175124G>A						C11orf30_uc009yuj.1_Silent_p.K292K|C11orf30_uc010rsa.1_Silent_p.K227K|C11orf30_uc001oxm.2_Silent_p.K278K|C11orf30_uc010rsb.1_Silent_p.K292K|C11orf30_uc010rsc.1_Silent_p.K292K|C11orf30_uc001oxn.2_Silent_p.K278K|C11orf30_uc010rsd.1_Silent_p.K291K	p.K277K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			7	974	+			277			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.831G>A	CCDS8244.1																																																																																				0.423	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193	Silent	9	30	0	0	0	0.008291	0	9	30		
ATM	472	broad.mit.edu	37	11	108115627	108115627	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:108115627C>T	ENST00000452508.2	+	8	964	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	ATM_ENST00000278616.4_Missense_Mutation_p.L259F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	259					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L259F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGATGAAATTCTTCCCACTTT	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(775-777)CTT>TTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							114.0	109.0	111.0					11																	108115627		2200	4298	6498	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108115627C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.775C>T	11.37:g.108115627C>T	ENSP00000388058:p.Leu259Phe	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.L259F	p.L259F	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	7	1160	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	259					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.775C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119363	0.37436	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.71103	-0.54;-0.54;-0.54	5.33	5.33	0.75918	Armadillo-type fold (1);	0.161340	0.41500	D	0.000880	T	0.63546	0.2520	L	0.54323	1.7	0.36893	D	0.889999	B	0.23990	0.095	B	0.21360	0.034	T	0.65623	-0.6123	10	0.44086	T	0.13	.	9.7223	0.40311	0.0:0.8398:0.0:0.1602	.	259	Q13315	ATM_HUMAN	F	259	ENSP00000435747:L259F;ENSP00000278616:L259F;ENSP00000388058:L259F	ENSP00000278616:L259F	L	+	1	0	ATM	107620837	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.371000	0.44248	2.669000	0.90835	0.650000	0.86243	CTT		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		4	67	0	0	0	0.009096	0	4	67		
PKNOX2	63876	broad.mit.edu	37	11	125281675	125281675	+	Missense_Mutation	SNP	G	G	A	rs200769767		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:125281675G>A	ENST00000298282.9	+	10	1121	c.850G>A	c.(850-852)Gag>Aag	p.E284K	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.E220K	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.E284K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCTGGACAATGAGGATAAGAA	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18966	0.0		0.0	False		,,,				2504	0.0					uc001qbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(850-852)GAG>AAG		PBX/knotted 1 homeobox 2							124.0	122.0	123.0					11																	125281675		2055	4211	6266	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125281675G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.850G>A	11.37:g.125281675G>A	ENSP00000298282:p.Glu284Lys					PKNOX2_uc010saz.1_Missense_Mutation_p.E255K|PKNOX2_uc010sba.1_Missense_Mutation_p.E255K|PKNOX2_uc010sbb.1_Missense_Mutation_p.E220K|PKNOX2_uc001qbv.2_Missense_Mutation_p.E49K	p.E284K	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	10	1164	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	284					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.850G>A	CCDS41730.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.96	3.266219	0.59540	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84146	-1.8;-1.8;-1.81;-1.8	5.45	5.45	0.79879	.	0.098722	0.64402	D	0.000002	D	0.82287	0.5004	L	0.34521	1.04	0.80722	D	1	P;P;P	0.48764	0.915;0.888;0.608	P;B;B	0.48334	0.574;0.321;0.074	T	0.77830	-0.2442	10	0.10111	T	0.7	-9.3018	19.2404	0.93879	0.0:0.0:1.0:0.0	.	220;255;284	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	K	255;255;284;220;272	ENSP00000434732:E255K;ENSP00000433971:E255K;ENSP00000298282:E284K;ENSP00000441470:E220K	ENSP00000298282:E284K	E	+	1	0	PKNOX2	124786885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.827000	0.69300	2.714000	0.92807	0.561000	0.74099	GAG		0.527	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3				15	44	0	0	0	0.020292	0	15	44		
MRPS35	60488	broad.mit.edu	37	12	27877118	27877118	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:27877118G>C	ENST00000081029.3	+	5	592	c.521G>C	c.(520-522)aGa>aCa	p.R174T	MRPS35_ENST00000538315.1_Splice_Site_p.R174T	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.R174T(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTAGTCTTAAGAGTAAGAGTT	0.353																																						uc001rih.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(520-522)AGA>ACA		mitochondrial ribosomal protein S35 precursor							54.0	54.0	54.0					12																	27877118		2203	4300	6503	SO:0001630	splice_region_variant	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27877118G>C	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.522+1G>C	12.37:g.27877118G>C						MRPS35_uc001rii.2_Missense_Mutation_p.R174T	p.R174T	NM_021821	NP_068593	P82673	RT35_HUMAN			5	569	+	Lung SC(9;0.0873)		174					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.521G>C	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124462	0.37533	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.46063	0.94;0.88	5.53	3.45	0.39498	Ribosomal protein S24/S35, mitochondrial, conserved domain (1);	0.259797	0.43747	D	0.000539	T	0.27384	0.0672	L	0.28694	0.88	0.38543	D	0.949261	B;B	0.25904	0.113;0.137	B;B	0.23275	0.044;0.045	T	0.12604	-1.0541	10	0.37606	T	0.19	-25.9337	7.5053	0.27540	0.3084:0.0:0.6916:0.0	.	174;174	P82673-2;P82673	.;RT35_HUMAN	T	174	ENSP00000081029:R174T;ENSP00000445390:R174T	ENSP00000081029:R174T	R	+	2	0	MRPS35	27768385	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.139000	0.31504	1.322000	0.45245	0.655000	0.94253	AGA		0.353	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1		NM_021821	Missense_Mutation	6	31	0	0	0	0.004482	0	6	31		
IPO8	10526	broad.mit.edu	37	12	30814158	30814158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:30814158C>T	ENST00000256079.4	-	16	2136	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	IPO8_ENST00000544829.1_Missense_Mutation_p.E395K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	600					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.E600K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTCAACTTCTTCATATTCA	0.338																																						uc001rjd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(1798-1800)GAA>AAA		importin 8							125.0	117.0	120.0					12																	30814158		2201	4300	6501	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30814158C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1798G>A	12.37:g.30814158C>T	ENSP00000256079:p.Glu600Lys					IPO8_uc001rje.1_Missense_Mutation_p.E89K|IPO8_uc010sjt.1_Missense_Mutation_p.E395K	p.E600K	NM_006390	NP_006381	O15397	IPO8_HUMAN			16	1968	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		600					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1798G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519698	0.85495	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.46063	0.88;0.88	4.56	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.241317	0.39759	N	0.001264	T	0.50650	0.1628	L	0.54323	1.7	0.51233	D	0.999916	P;P;P	0.52316	0.624;0.896;0.952	B;P;P	0.52598	0.292;0.596;0.703	T	0.44221	-0.9342	10	0.25106	T	0.35	-10.1189	17.6787	0.88237	0.0:1.0:0.0:0.0	.	395;76;600	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	K	600;76;395	ENSP00000256079:E600K;ENSP00000444520:E395K	ENSP00000256079:E600K	E	-	1	0	IPO8	30705425	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	7.219000	0.78000	2.224000	0.72417	0.591000	0.81541	GAA		0.338	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		9	25	0	0	0	0.004482	0	9	25		
IRAK4	51135	broad.mit.edu	37	12	44166804	44166804	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:44166804G>C	ENST00000448290.2	+	5	651	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	IRAK4_ENST00000431837.1_Missense_Mutation_p.E70Q|IRAK4_ENST00000440781.2_Missense_Mutation_p.E70Q|IRAK4_ENST00000551736.1_Missense_Mutation_p.E194Q	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E194Q(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAAAATGGGAGAGGGAGGATT	0.338																																						uc001rnu.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(580-582)GAG>CAG		interleukin-1 receptor-associated kinase 4							72.0	73.0	73.0					12																	44166804		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166804G>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.580G>C	12.37:g.44166804G>C	ENSP00000390651:p.Glu194Gln					IRAK4_uc001rnt.3_Missense_Mutation_p.E194Q|IRAK4_uc001rnx.3_Missense_Mutation_p.E70Q|IRAK4_uc001rny.3_Missense_Mutation_p.E70Q|IRAK4_uc010sky.1_Missense_Mutation_p.E70Q|IRAK4_uc001rnv.3_Missense_Mutation_p.E70Q|IRAK4_uc001rnw.3_Missense_Mutation_p.E70Q	p.E194Q	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	6	710	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	194			ATP (By similarity).|Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.580G>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766721	0.90020	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171293	0.51477	D	0.000094	T	0.68007	0.2954	L	0.48935	1.535	0.58432	D	0.999999	P	0.51147	0.942	P	0.51385	0.668	T	0.71196	-0.4664	10	0.66056	D	0.02	-22.1261	19.0283	0.92944	0.0:0.0:1.0:0.0	.	194	Q9NWZ3	IRAK4_HUMAN	Q	70;70;194;194;194	ENSP00000408734:E70Q;ENSP00000390327:E70Q;ENSP00000390651:E194Q;ENSP00000446490:E194Q	ENSP00000349096:E194Q	E	+	1	0	IRAK4	42453071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.680000	0.91225	2.572000	0.86782	0.655000	0.94253	GAG		0.338	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1				9	30	0	0	0	0.006214	0	9	30		
MYBPC1	4604	broad.mit.edu	37	12	102043044	102043044	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:102043044G>C	ENST00000550270.1	+	13	1128	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N	MYBPC1_ENST00000392934.3_Missense_Mutation_p.K363N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K401N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K376N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K376N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K350N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K401N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K376N|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K362N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K364N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K376N|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K389N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K376N|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K357N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K277N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K376N(1)|p.K401N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAGGTTTAAGAATGGTGAAG	0.343																																						uc001tii.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|liver(1)|skin(1)	4						c.(1126-1128)AAG>AAC		myosin binding protein C, slow type isoform 3							60.0	59.0	60.0					12																	102043044		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102043044G>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1128G>C	12.37:g.102043044G>C	ENSP00000449702:p.Lys376Asn					MYBPC1_uc001tif.1_Missense_Mutation_p.K389N|MYBPC1_uc001tig.2_Missense_Mutation_p.K401N|MYBPC1_uc010svq.1_Missense_Mutation_p.K363N|MYBPC1_uc001tih.2_Missense_Mutation_p.K401N|MYBPC1_uc001tij.2_Missense_Mutation_p.K376N|MYBPC1_uc010svr.1_Missense_Mutation_p.K376N|MYBPC1_uc010svs.1_Missense_Mutation_p.K376N|MYBPC1_uc010svt.1_Missense_Mutation_p.K364N|MYBPC1_uc010svu.1_Missense_Mutation_p.K357N|MYBPC1_uc001tik.2_Missense_Mutation_p.K350N	p.K376N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			13	1230	+			376			Ig-like C2-type 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1128G>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469812	0.63625	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000059	T	0.80919	0.4716	H	0.97365	3.99	0.53688	D	0.999978	P;D;P;D;D;D;D;D;P;D;D	0.60575	0.766;0.988;0.915;0.979;0.979;0.979;0.973;0.979;0.521;0.973;0.973	P;D;P;D;D;D;P;D;P;P;D	0.66979	0.62;0.932;0.875;0.932;0.948;0.948;0.888;0.948;0.452;0.888;0.913	D	0.86381	0.1729	10	0.87932	D	0	.	13.0774	0.59095	0.114:0.0:0.886:0.0	.	357;364;376;376;363;350;376;376;401;401;389	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	N	350;376;376;376;363;362;401;389;376;401;376;357;364;401;277;376	ENSP00000448175:K350N;ENSP00000400908:K376N;ENSP00000388989:K376N;ENSP00000353822:K376N;ENSP00000376665:K363N;ENSP00000447362:K362N;ENSP00000354845:K401N;ENSP00000447660:K389N;ENSP00000447900:K376N;ENSP00000440034:K376N;ENSP00000446128:K357N;ENSP00000442847:K364N;ENSP00000354849:K401N;ENSP00000447116:K277N;ENSP00000449702:K376N	ENSP00000353822:K376N	K	+	3	2	MYBPC1	100567175	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.753000	0.38359	2.838000	0.97847	0.591000	0.81541	AAG		0.343	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				10	36	0	0	0	0.006214	0	10	36		
HIP1R	9026	broad.mit.edu	37	12	123340550	123340550	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:123340550G>A	ENST00000253083.4	+	14	1277	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	384					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.L384L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TCGCGCAGCTGAAGAGCCAGG	0.692																																						uc001udj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1150-1152)CTG>CTA		huntingtin interacting protein-1-related							39.0	39.0	39.0					12																	123340550		2195	4296	6491	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123340550G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1152G>A	12.37:g.123340550G>A						HIP1R_uc001udg.1_Silent_p.L372L|HIP1R_uc001udi.1_Silent_p.L384L|HIP1R_uc001udk.1_5'UTR	p.L384L	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	14	1211	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		384			Potential.		A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.1152G>A	CCDS31922.1																																																																																				0.692	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		4	9	0	0	0	0.009096	0	4	9		
TUBA3C	7278	broad.mit.edu	37	13	19748219	19748219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr13:19748219G>C	ENST00000400113.3	-	5	1241	c.1137C>G	c.(1135-1137)agC>agG	p.S379R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	379					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S379R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGTGGTGTTGCTCAGCATGC	0.622																																						uc009zzj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(1135-1137)AGC>AGG		tubulin, alpha 3c							86.0	77.0	80.0					13																	19748219		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748219G>C	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1137C>G	13.37:g.19748219G>C	ENSP00000382982:p.Ser379Arg						p.S379R	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1186	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	379					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1137C>G	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.12	2.142528	0.37825	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.83163	-1.69	1.22	1.22	0.21188	.	0.000000	0.56097	U	0.000028	D	0.84570	0.5501	.	.	.	0.45594	D	0.998538	.	.	.	.	.	.	D	0.84188	0.0443	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	R	379	ENSP00000382982:S379R	ENSP00000354037:S379R	S	-	3	2	TUBA3C	18646219	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.192000	0.72069	0.982000	0.38575	0.194000	0.17425	AGC		0.622	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2		NM_006001		20	64	0	0	0	0.012319	0	20	64		
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A	rs397516199		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657																																						uc001wjx.2		NaN																	3	Substitution - Missense(3)		lung(2)|urinary_tract(1)	ovary(3)|skin(1)	4						c.(4003-4005)TCG>TTG		myosin, heavy chain 7, cardiac muscle, beta							33.0	33.0	33.0					14																	23887584		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887584G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4004C>T	14.37:g.23887584G>A	ENSP00000347507:p.Ser1335Leu					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.S1335L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4110	-	all_cancers(95;2.54e-05)		1335			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4004C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445315	0.83993	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83673	-1.75	4.97	4.97	0.65823	Myosin tail (1);	.	.	.	.	D	0.87489	0.6190	M	0.90309	3.105	0.80722	D	1	B	0.18310	0.027	B	0.24006	0.05	D	0.86619	0.1878	9	0.87932	D	0	.	18.4295	0.90620	0.0:0.0:1.0:0.0	.	1335	P12883	MYH7_HUMAN	L	1335;1340	ENSP00000347507:S1335L	ENSP00000347507:S1335L	S	-	2	0	MYH7	22957424	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	9.379000	0.97198	2.600000	0.87896	0.655000	0.94253	TCG		0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		13	29	0	0	0	0.003163	0	13	29		
DAAM1	23002	broad.mit.edu	37	14	59819340	59819340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:59819340G>C	ENST00000395125.1	+	18	2310	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q	DAAM1_ENST00000360909.3_Missense_Mutation_p.E753Q|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.E763Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	763	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.E763Q(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTTCCTTTTTGAGATGAGCCG	0.403																																						uc001xdz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2287-2289)GAG>CAG		dishevelled-associated activator of							116.0	103.0	107.0					14																	59819340		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59819340G>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2287G>C	14.37:g.59819340G>C	ENSP00000378557:p.Glu763Gln					DAAM1_uc001xea.1_Missense_Mutation_p.E753Q|DAAM1_uc001xec.1_5'Flank	p.E763Q	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	19	2412	+			763			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2287G>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452203	0.84209	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.18960	2.18;2.18;2.18	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.49640	1.575	0.80722	D	1	D;D	0.65815	0.995;0.988	D;D	0.70935	0.971;0.966	T	0.01349	-1.1378	10	0.18710	T	0.47	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	753;763	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	753;763;763;763	ENSP00000354162:E753Q;ENSP00000247170:E763Q;ENSP00000378557:E763Q	ENSP00000247170:E763Q	E	+	1	0	DAAM1	58889093	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.995000	0.88328	2.873000	0.98535	0.563000	0.77884	GAG		0.403	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		8	18	0	0	0	0.004482	0	8	18		
NUMB	8650	broad.mit.edu	37	14	73743889	73743889	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:73743889G>C	ENST00000355058.3	-	13	1631	c.1353C>G	c.(1351-1353)gtC>gtG	p.V451V	NUMB_ENST00000544991.3_Silent_p.V256V|NUMB_ENST00000557597.1_Silent_p.V440V|NUMB_ENST00000555238.1_Silent_p.V451V|NUMB_ENST00000454166.4_Silent_p.V305V|NUMB_ENST00000359560.3_Silent_p.V440V|NUMB_ENST00000535282.1_Silent_p.V440V|NUMB_ENST00000555738.2_Silent_p.V294V|NUMB_ENST00000556772.1_Silent_p.V307V|NUMB_ENST00000555394.1_Silent_p.V403V|NUMB_ENST00000554546.1_Silent_p.V392V|NUMB_ENST00000560335.1_Silent_p.V305V|NUMB_ENST00000559312.1_Silent_p.V256V|NUMB_ENST00000356296.4_Silent_p.V403V|NUMB_ENST00000554521.2_Silent_p.V245V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	451					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V451V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTGAGCCCGGACGCTCTTAG	0.607																																						uc001xny.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1351-1353)GTC>GTG		numb homolog isoform 1							41.0	40.0	40.0					14																	73743889		2203	4300	6503	SO:0001819	synonymous_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743889G>C	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1353C>G	14.37:g.73743889G>C						NUMB_uc010aro.1_Silent_p.V256V|NUMB_uc010arp.1_Silent_p.V245V|NUMB_uc010arq.1_Silent_p.V305V|NUMB_uc010arr.1_Silent_p.V294V|NUMB_uc001xoa.1_Silent_p.V403V|NUMB_uc001xnz.1_Silent_p.V440V|NUMB_uc001xob.1_Silent_p.V392V|NUMB_uc001xod.1_Silent_p.V403V|NUMB_uc001xoc.1_Silent_p.V451V|NUMB_uc010ars.1_Silent_p.V440V|NUMB_uc010ttz.1_Silent_p.V149V|NUMB_uc001xoe.2_RNA	p.V451V	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	13	1673	-			451					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	c.1353C>G	CCDS32116.1																																																																																				0.607	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1				8	28	0	0	0	0.004482	0	8	28		
RPAP1	26015	broad.mit.edu	37	15	41822071	41822071	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41822071C>G	ENST00000304330.4	-	8	1166	c.1050G>C	c.(1048-1050)caG>caC	p.Q350H	RPAP1_ENST00000561603.1_Missense_Mutation_p.Q350H|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	350						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Q350H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTCCTGTGTCTGCTGCCGCC	0.607																																						uc001zod.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(1048-1050)CAG>CAC		RNA polymerase II associated protein 1							37.0	33.0	34.0					15																	41822071		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41822071C>G	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1050G>C	15.37:g.41822071C>G	ENSP00000306123:p.Gln350His						p.Q350H	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1174	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	350					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1050G>C	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918862	0.33908	.	.	ENSG00000103932	ENST00000304330	T	0.11712	2.75	4.81	1.68	0.24146	.	0.312791	0.34386	N	0.004006	T	0.08313	0.0207	L	0.44542	1.39	0.37369	D	0.911539	P	0.36837	0.571	B	0.34931	0.192	T	0.21008	-1.0258	10	0.59425	D	0.04	-13.4977	5.4891	0.16767	0.0:0.4984:0.0:0.5016	.	350	Q9BWH6	RPAP1_HUMAN	H	350	ENSP00000306123:Q350H	ENSP00000306123:Q350H	Q	-	3	2	RPAP1	39609363	1.000000	0.71417	0.986000	0.45419	0.593000	0.36681	0.999000	0.29757	0.611000	0.30052	0.563000	0.77884	CAG		0.607	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		7	23	0	0	0	0.001984	0	7	23		
RPAP1	26015	broad.mit.edu	37	15	41823249	41823249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823249C>G	ENST00000304330.4	-	7	1031	c.915G>C	c.(913-915)aaG>aaC	p.K305N	RPAP1_ENST00000561603.1_Missense_Mutation_p.K305N|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	305						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.K305N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTGTCTCTCTTCCTGGGCT	0.557																																						uc001zod.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(913-915)AAG>AAC		RNA polymerase II associated protein 1							124.0	130.0	128.0					15																	41823249		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41823249C>G	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.915G>C	15.37:g.41823249C>G	ENSP00000306123:p.Lys305Asn						p.K305N	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1039	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	305					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.915G>C	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	5.476	0.272955	0.10349	.	.	ENSG00000103932	ENST00000304330	T	0.12774	2.65	5.36	4.45	0.53987	.	1.376540	0.04330	N	0.352146	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24870	-1.0148	10	0.59425	D	0.04	-21.4069	10.0019	0.41933	0.0:0.9067:0.0:0.0933	.	305	Q9BWH6	RPAP1_HUMAN	N	305	ENSP00000306123:K305N	ENSP00000306123:K305N	K	-	3	2	RPAP1	39610541	0.000000	0.05858	0.480000	0.27341	0.342000	0.28953	-0.124000	0.10595	1.267000	0.44247	-0.251000	0.11542	AAG		0.557	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		51	133	0	0	0	0.01441	0	51	133		
RPAP1	26015	broad.mit.edu	37	15	41823378	41823378	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823378C>G	ENST00000304330.4	-	7	902	c.786G>C	c.(784-786)ttG>ttC	p.L262F	RPAP1_ENST00000561603.1_Missense_Mutation_p.L262F|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	262						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L262F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGTGAGATCTCAAGAAAGCAA	0.567																																						uc001zod.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(784-786)TTG>TTC		RNA polymerase II associated protein 1							144.0	139.0	141.0					15																	41823378		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41823378C>G	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.786G>C	15.37:g.41823378C>G	ENSP00000306123:p.Leu262Phe						p.L262F	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	910	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	262					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.786G>C	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455851	0.43634	.	.	ENSG00000103932	ENST00000304330	T	0.43294	0.95	5.36	3.47	0.39725	RNA polymerase II-associated protein 1, N-terminal (1);	0.260902	0.33753	N	0.004582	T	0.61135	0.2323	M	0.76938	2.355	0.48830	D	0.999714	D	0.89917	1.0	D	0.77557	0.99	T	0.61884	-0.6971	10	0.87932	D	0	-12.52	8.6937	0.34282	0.0:0.8213:0.0:0.1787	.	262	Q9BWH6	RPAP1_HUMAN	F	262	ENSP00000306123:L262F	ENSP00000306123:L262F	L	-	3	2	RPAP1	39610670	0.994000	0.37717	0.993000	0.49108	0.192000	0.23643	0.117000	0.15583	0.638000	0.30545	-0.244000	0.11960	TTG		0.567	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		40	163	0	0	0	0.010771	0	40	163		
PYGO1	26108	broad.mit.edu	37	15	55839115	55839115	+	Nonsense_Mutation	SNP	G	G	T	rs149582531		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:55839115G>T	ENST00000302000.6	-	3	460	c.366C>A	c.(364-366)taC>taA	p.Y122*	PYGO1_ENST00000563719.1_Nonsense_Mutation_p.Y122*	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	122	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y122*(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCCTGAGTGAGTAAGGACCAC	0.473																																						uc010bfl.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(364-366)TAC>TAA		pygopus homolog 1							90.0	81.0	84.0					15																	55839115		2193	4292	6485	SO:0001587	stop_gained	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839115G>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.366C>A	15.37:g.55839115G>T	ENSP00000302327:p.Tyr122*					PYGO1_uc002adf.1_Nonsense_Mutation_p.Y122*	p.Y122*	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	422	-			122			Pro-rich.		A7Y2D6	Nonsense_Mutation	SNP	ENST00000302000.6	37	c.366C>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863573	0.71949	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	.	.	.	4.88	3.96	0.45880	.	0.165679	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7588	8.4485	0.32856	0.2463:0.0:0.7537:0.0	.	.	.	.	X	122	.	ENSP00000302327:Y122X	Y	-	3	2	PYGO1	53626407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.785000	0.38684	1.178000	0.42870	0.585000	0.79938	TAC		0.473	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2		NM_015617		16	55	1	0	6.31663e-08	0.003163	6.9105e-08	16	55		
HEXA	3073	broad.mit.edu	37	15	72645501	72645501	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:72645501C>T	ENST00000268097.5	-	5	981	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HEXA_ENST00000566304.1_Missense_Mutation_p.E171K|HEXA_ENST00000567159.1_Missense_Mutation_p.E160K|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Intron	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	160					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.E160K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTCAATCTCAGTCTTGTTG	0.488																																						uc002aun.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4	GRCh37	CD910531	HEXA	D		c.(478-480)GAG>AAG		hexosaminidase A preproprotein							100.0	78.0	86.0					15																	72645501		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72645501C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.478G>A	15.37:g.72645501C>T	ENSP00000268097:p.Glu160Lys					CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E171K|HEXA_uc002auo.3_Missense_Mutation_p.E23K|HEXA_uc010bix.2_Missense_Mutation_p.E160K|HEXA_uc010biy.2_Missense_Mutation_p.E23K|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA	p.E160K	NM_000520	NP_000511	P06865	HEXA_HUMAN			5	685	-			160					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.478G>A	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	8.108	0.778117	0.16120	.	.	ENSG00000213614	ENST00000268097	D	0.93547	-3.24	5.44	3.22	0.36961	Acetylhexosaminidase, subunit a/b (1);	0.657220	0.14443	N	0.319257	D	0.84074	0.5392	N	0.20304	0.555	0.21499	N	0.999661	B;B;B	0.11235	0.001;0.0;0.004	B;B;B	0.16289	0.008;0.009;0.015	T	0.67688	-0.5606	10	0.11485	T	0.65	-5.1276	5.0198	0.14356	0.1566:0.6417:0.0:0.2017	.	171;40;160	B4DVA7;Q9BVJ8;P06865	.;.;HEXA_HUMAN	K	160	ENSP00000268097:E160K	ENSP00000268097:E160K	E	-	1	0	HEXA	70432555	0.288000	0.24324	0.014000	0.15608	0.991000	0.79684	2.413000	0.44618	0.444000	0.26612	0.650000	0.86243	GAG		0.488	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2		NM_000520		5	19	0	0	0	0.014758	0	5	19		
ZNF710	374655	broad.mit.edu	37	15	90611183	90611183	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90611183G>C	ENST00000268154.4	+	2	1065	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D272H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCCCAGCTGGATCGGCTGGA	0.632																																						uc002bov.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(814-816)GAT>CAT		zinc finger protein 710							54.0	62.0	59.0					15																	90611183		2199	4298	6497	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611183G>C	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.814G>C	15.37:g.90611183G>C	ENSP00000268154:p.Asp272His						p.D272H	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	937	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		272					A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.814G>C	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100754	0.76983	.	.	ENSG00000140548	ENST00000268154	T	0.09911	2.93	4.96	4.96	0.65561	.	0.387849	0.21904	N	0.067406	T	0.28333	0.0700	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00342	-1.1803	10	0.42905	T	0.14	-50.3779	16.951	0.86245	0.0:0.0:1.0:0.0	.	272	Q8N1W2	ZN710_HUMAN	H	272	ENSP00000268154:D272H	ENSP00000268154:D272H	D	+	1	0	ZNF710	88412187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.514000	0.98013	2.574000	0.86865	0.561000	0.74099	GAT		0.632	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526		19	74	0	0	0	0.010504	0	19	74		
GDPGP1	390637	broad.mit.edu	37	15	90785018	90785018	+	Missense_Mutation	SNP	G	G	A	rs200215496	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90785018G>A	ENST00000558017.1	+	4	1298	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R293Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	293					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)	p.R293Q(1)									TTTGTCACCCGGGGAGCTCCG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		18863	0.001		0.0	False		,,,				2504	0.001					uc002bpc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(877-879)CGG>CAG		hypothetical protein LOC390637		G	GLN/ARG	0,4398		0,0,2199	101.0	97.0	98.0		878	5.9	1.0	15		98	1,8595	1.2+/-3.3	0,1,4297	no	missense	C15orf58	NM_001013657.2	43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/386	90785018	1,12993	2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90785018G>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.878G>A	15.37:g.90785018G>A	ENSP00000452793:p.Arg293Gln						p.R293Q	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			4	1057	+			293						Missense_Mutation	SNP	ENST00000558017.1	37	c.878G>A	CCDS32327.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.398944	0.96030	0.0	1.16E-4	ENSG00000183208	ENST00000329600	T	0.25749	1.78	5.89	5.89	0.94794	.	0.059772	0.64402	N	0.000007	T	0.48960	0.1529	L	0.56769	1.78	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.23154	-1.0196	10	0.42905	T	0.14	-19.2736	17.7418	0.88409	0.0:0.0:1.0:0.0	.	293	Q6ZNW5	VTC2_HUMAN	Q	293	ENSP00000368405:R293Q	ENSP00000368405:R293Q	R	+	2	0	C15orf58	88586022	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	8.747000	0.91610	2.790000	0.95986	0.655000	0.94253	CGG		0.557	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1		NM_001013657		10	68	0	0	0	0.008291	0	10	68		
IGFALS	3483	broad.mit.edu	37	16	1841120	1841120	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:1841120C>T	ENST00000215539.3	-	2	1409	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	IGFALS_ENST00000415638.3_Silent_p.L471L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	433					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)	p.L433L(1)		endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCAGCTCCGCCAGCCCCCACA	0.682																																						uc002cmy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1297-1299)CTG>CTA		insulin-like growth factor binding protein, acid							16.0	19.0	18.0					16																	1841120		2180	4283	6463	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841120C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1299G>A	16.37:g.1841120C>T						IGFALS_uc010uvn.1_Silent_p.L471L|IGFALS_uc010uvo.1_Silent_p.L67L	p.L433L	NM_004970	NP_004961	P35858	ALS_HUMAN			2	1380	-			433					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.1299G>A	CCDS10446.1																																																																																				0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2				6	14	0	0	0	0.001168	0	6	14		
SHCBP1	79801	broad.mit.edu	37	16	46650007	46650007	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:46650007G>A	ENST00000303383.3	-	4	713	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	149					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.L149L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAGAGTCACAGAGGTATGGTT	0.468																																						uc002eec.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(445-447)CTC>CTT		SHC SH2-domain binding protein 1							88.0	81.0	83.0					16																	46650007		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46650007G>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.447C>T	16.37:g.46650007G>A							p.L149L	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			4	487	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	149					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.447C>T	CCDS10720.1																																																																																				0.468	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1		NM_024745		13	57	0	0	0	0.020292	0	13	57		
ZNF276	92822	broad.mit.edu	37	16	89788955	89788955	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:89788955C>T	ENST00000443381.2	+	2	319	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ZNF276_ENST00000289816.5_5'UTR|ZNF276_ENST00000568064.1_5'UTR|ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L74L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCGGGCTCTCGCCATGGGTC	0.662																																						uc002fos.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(220-222)CTC>CTT		zinc finger protein 276 isoform a							38.0	43.0	41.0					16																	89788955		2198	4297	6495	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89788955C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.222C>T	16.37:g.89788955C>T						C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_5'UTR|ZNF276_uc002foq.3_5'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.L74L	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	319	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	74					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.222C>T	CCDS45554.1																																																																																				0.662	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		6	53	0	0	0	0.001168	0	6	53		
ZZEF1	23140	broad.mit.edu	37	17	4017635	4017635	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:4017635G>C	ENST00000381638.2	-	4	948	c.824C>G	c.(823-825)tCc>tGc	p.S275C	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	275	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S275C(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCCAGTAGGATGAGGTTTC	0.388																																						uc002fxe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(823-825)TCC>TGC		zinc finger, ZZ type with EF hand domain 1							189.0	166.0	174.0					17																	4017635		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4017635G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.824C>G	17.37:g.4017635G>C	ENSP00000371051:p.Ser275Cys					ZZEF1_uc002fxk.1_Missense_Mutation_p.S275C	p.S275C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			4	888	-			275			DOC.		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.824C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212192	0.79240	.	.	ENSG00000074755	ENST00000381638	T	0.64618	-0.11	5.12	5.12	0.69794	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.81057	-0.1105	10	0.87932	D	0	-12.3266	18.5639	0.91111	0.0:0.0:1.0:0.0	.	275;275	O43149-3;O43149	.;ZZEF1_HUMAN	C	275	ENSP00000371051:S275C	ENSP00000371051:S275C	S	-	2	0	ZZEF1	3964384	1.000000	0.71417	0.932000	0.37286	0.711000	0.40976	9.441000	0.97557	2.359000	0.80004	0.557000	0.71058	TCC		0.388	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		33	88	0	0	0	0.005524	0	33	88		
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		8	21	0	0	0	0.004482	0	8	21		
SREBF1	6720	broad.mit.edu	37	17	17723649	17723649	+	Missense_Mutation	SNP	G	G	A	rs149599437		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:17723649G>A	ENST00000261646.5	-	2	462	c.278C>T	c.(277-279)gCg>gTg	p.A93V	SREBF1_ENST00000338854.5_Missense_Mutation_p.A93V|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.A123V|SREBF1_ENST00000435530.2_Missense_Mutation_p.A93V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	93	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.A123V(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGTGAGGGCGCTGCCTGCGG	0.637																																						uc002gru.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(277-279)GCG>GTG		sterol regulatory element binding transcription		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	60.0	64.0	62.0		368,278	4.5	0.1	17	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SREBF1	NM_001005291.2,NM_004176.4	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	123/1178,93/1148	17723649	1,13005	2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17723649G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.278C>T	17.37:g.17723649G>A	ENSP00000261646:p.Ala93Val					SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.A69V|SREBF1_uc002grt.1_Missense_Mutation_p.A123V|SREBF1_uc010cpp.1_Missense_Mutation_p.A69V|SREBF1_uc010cpq.1_Missense_Mutation_p.A93V	p.A93V	NM_004176	NP_004167	P36956	SRBP1_HUMAN			2	472	-			93			Pro/Ser-rich.|Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.278C>T	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	8.590	0.884318	0.17467	0.0	1.16E-4	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000418712;ENST00000435530	T;T;T;T	0.77489	0.61;0.63;0.62;-1.1	4.52	4.52	0.55395	.	0.604084	0.16124	N	0.228510	T	0.66197	0.2765	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.20550	0.046;0.046;0.006;0.028	B;B;B;B	0.11329	0.004;0.004;0.001;0.006	T	0.53034	-0.8495	10	0.27082	T	0.32	-0.3964	15.909	0.79456	0.0:0.0:1.0:0.0	.	93;69;93;123	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	V	93;123;93;69;93	ENSP00000345822:A93V;ENSP00000348069:A123V;ENSP00000261646:A93V;ENSP00000413389:A93V	ENSP00000261646:A93V	A	-	2	0	SREBF1	17664374	0.016000	0.18221	0.050000	0.19076	0.286000	0.27126	1.896000	0.39789	2.081000	0.62600	0.555000	0.69702	GCG		0.637	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176		28	59	0	0	0	0.00632	0	28	59		
ACACA	31	broad.mit.edu	37	17	35445914	35445914	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:35445914G>C	ENST00000394406.2	-	55	7066	c.6876C>G	c.(6874-6876)atC>atG	p.I2292M	ACACA_ENST00000360679.3_Missense_Mutation_p.I2234M|ACACA_ENST00000353139.5_Missense_Mutation_p.I2329M|ACACA_ENST00000361253.5_Missense_Mutation_p.I418M|ACACA_ENST00000335166.5_Missense_Mutation_p.I2214M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2292					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.I2329M(1)|p.I2234M(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGATGCATTTGATGTTTTCCT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|ovary(1)	2						c.(6874-6876)ATC>ATG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						294.0	247.0	263.0					17																	35445914		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35445914G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6876C>G	17.37:g.35445914G>C	ENSP00000377928:p.Ile2292Met					ACACA_uc002hnk.2_Missense_Mutation_p.I2214M|ACACA_uc002hnl.2_Missense_Mutation_p.I2234M|ACACA_uc002hnn.2_Missense_Mutation_p.I2292M|ACACA_uc002hno.2_Missense_Mutation_p.I2329M|ACACA_uc010cuy.2_Missense_Mutation_p.I937M|ACACA_uc010wdb.1_Missense_Mutation_p.I330M|ACACA_uc010wdc.1_Missense_Mutation_p.I418M	p.I2292M	NM_198836	NP_942133	Q13085	ACACA_HUMAN			55	7067	-		Breast(25;0.00157)|Ovarian(249;0.15)	2292					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6876C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624488	0.66901	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.68317	2.08	0.80722	D	1	B;P;B;B;B	0.35383	0.307;0.498;0.29;0.09;0.147	B;B;B;B;B	0.37550	0.105;0.23;0.253;0.053;0.113	T	0.59032	-0.7530	10	0.62326	D	0.03	-13.7742	15.1668	0.72833	0.0694:0.0:0.9306:0.0	.	330;991;2329;2292;2234	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	M	2329;2234;2292;2316;2214;991;418	ENSP00000344789:I2329M;ENSP00000353898:I2234M;ENSP00000377928:I2292M;ENSP00000335323:I2214M;ENSP00000354565:I418M	ENSP00000335323:I2214M	I	-	3	3	ACACA	32520027	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.804000	0.47931	2.732000	0.93576	0.655000	0.94253	ATC		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		10	221	0	0	0	0.006214	0	10	221		
C17orf53	78995	broad.mit.edu	37	17	42225570	42225570	+	Silent	SNP	C	C	T	rs370317090		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42225570C>T	ENST00000319977.4	+	3	636	c.399C>T	c.(397-399)gcC>gcT	p.A133A	C17orf53_ENST00000245382.6_Silent_p.A133A|C17orf53_ENST00000585683.1_Silent_p.A133A	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	133								p.A133A(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTCCTCAGCCTTACACCCCC	0.517																																						uc002ifi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(397-399)GCC>GCT		hypothetical protein LOC78995		C	,	0,4406		0,0,2203	140.0	148.0	145.0		399,399	1.6	0.0	17		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C17orf53	NM_001171251.1,NM_024032.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	133/647,133/648	42225570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42225570C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.399C>T	17.37:g.42225570C>T						C17orf53_uc010czq.1_Silent_p.A133A|C17orf53_uc002ifj.1_Silent_p.A133A|C17orf53_uc002ifk.1_RNA	p.A133A	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	584	+		Breast(137;0.0364)|Prostate(33;0.0376)	133					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.399C>T	CCDS11477.1																																																																																				0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1		NM_024032		7	173	0	0	0	0.004482	0	7	173		
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	C	rs267607508		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42985496G>C	ENST00000253408.5	-	8	1258	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592																																						uc002ihq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2	GRCh37	CM083521	GFAP	M		c.(1192-1194)TCT>TGT		glial fibrillary acidic protein isoform 1							206.0	170.0	182.0					17																	42985496		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42985496G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1193C>G	17.37:g.42985496G>C	ENSP00000253408:p.Ser398Cys						p.S398C	NM_002055	NP_002046	P14136	GFAP_HUMAN			8	1253	-		Prostate(33;0.0959)	398			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1193C>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482409	0.84747	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97831	-4.56	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.97402	0.9150	L	0.38175	1.15	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	D	0.97229	0.9883	10	0.56958	D	0.05	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	C	398;373	ENSP00000253408:S398C	ENSP00000253408:S398C	S	-	2	0	GFAP	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT		0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1		NM_002055		31	75	0	0	0	0.012213	0	31	75		
B4GALNT2	124872	broad.mit.edu	37	17	47218697	47218697	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:47218697G>A	ENST00000300404.2	+	2	342	c.283G>A	c.(283-285)Gca>Aca	p.A95T	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A9T|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A35T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	95					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.A95T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTTCCTTCAAGCAGTGTTCAG	0.507																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(283-285)GCA>ACA		beta-1,4-N-acetyl-galactosaminyl transferase 2							137.0	138.0	138.0					17																	47218697		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47218697G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.283G>A	17.37:g.47218697G>A	ENSP00000300404:p.Ala95Thr					B4GALNT2_uc010wlt.1_Missense_Mutation_p.A9T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A35T	p.A95T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		2	342	+			95			Lumenal (Potential).		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.283G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	1.747	-0.490145	0.04322	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.24350	1.87;1.86;2.19	4.85	-6.31	0.02001	.	2.616990	0.01450	N	0.015472	T	0.08447	0.0210	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.16482	-1.0401	10	0.15952	T	0.53	1.768	1.8785	0.03223	0.4473:0.2429:0.1868:0.123	.	35;95	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	T	9;35;95	ENSP00000425510:A9T;ENSP00000377022:A35T;ENSP00000300404:A95T	ENSP00000300404:A95T	A	+	1	0	B4GALNT2	44573696	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.090000	0.03372	-0.835000	0.04234	0.563000	0.77884	GCA		0.507	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1		NM_153446		34	119	0	0	0	0.015359	0	34	119		
RPTOR	57521	broad.mit.edu	37	17	78936369	78936369	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:78936369G>C	ENST00000306801.3	+	32	4163	c.3801G>C	c.(3799-3801)ctG>ctC	p.L1267L	RPTOR_ENST00000544334.2_Silent_p.L1109L|RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1267					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1267L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGGCGGACCTGATCGCATGGT	0.642																																						uc002jyt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(3799-3801)CTG>CTC		raptor isoform 1							78.0	68.0	71.0					17																	78936369		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78936369G>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3801G>C	17.37:g.78936369G>C						RPTOR_uc010wug.1_Silent_p.L1109L|RPTOR_uc002jyu.1_Silent_p.L160L	p.L1267L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			32	4606	+			1267			WD 6.		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.3801G>C	CCDS11773.1																																																																																				0.642	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1		NM_020761		11	43	0	0	0	0.010729	0	11	43		
MYOM1	8736	broad.mit.edu	37	18	3090701	3090701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr18:3090701C>G	ENST00000356443.4	-	27	4297	c.3964G>C	c.(3964-3966)Gat>Cat	p.D1322H	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1226H|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1322H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1322					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.D1322H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTTTCCATCTTGAAGCTGG	0.413																																						uc002klp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3964-3966)GAT>CAT		myomesin 1 isoform a							198.0	195.0	196.0					18																	3090701		1969	4156	6125	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3090701C>G	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3964G>C	18.37:g.3090701C>G	ENSP00000348821:p.Asp1322His					MYOM1_uc002klq.2_Missense_Mutation_p.D1226H	p.D1322H	NM_003803	NP_003794	P52179	MYOM1_HUMAN			27	4298	-			1322					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3964G>C	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483541	0.63962	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04809	3.55;3.55;3.55	5.7	5.7	0.88788	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00673	-1.1616	10	0.66056	D	0.02	.	19.8327	0.96642	0.0:1.0:0.0:0.0	.	1226;1322	P52179-2;P52179	.;MYOM1_HUMAN	H	1322;1322;1226	ENSP00000348821:D1322H;ENSP00000383413:D1322H;ENSP00000261606:D1226H	ENSP00000261606:D1226H	D	-	1	0	MYOM1	3080701	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.686000	0.91538	0.591000	0.81541	GAT		0.413	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		28	61	0	0	0	0.005443	0	28	61		
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:2737188G>A	ENST00000269740.4	-	2	397	c.68C>T	c.(67-69)tCc>tTc	p.S23F	SLC39A3_ENST00000545664.1_Missense_Mutation_p.S23F|SLC39A3_ENST00000590875.1_5'Flank|AC006538.4_ENST00000586572.1_Missense_Mutation_p.S23F|SLC39A3_ENST00000455372.2_Missense_Mutation_p.S23F	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	23					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.S23F(1)|p.S23C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547																																						uc002lwg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(67-69)TCC>TTC		solute carrier family 39 (zinc transporter),							111.0	101.0	105.0					19																	2737188		2203	4300	6503	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2737188G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.68C>T	19.37:g.2737188G>A	ENSP00000269740:p.Ser23Phe					SLC39A3_uc010xgy.1_Missense_Mutation_p.S23F|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23F	p.S23F	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	322	-		Hepatocellular(1079;0.137)	23			Helical; (Potential).		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.68C>T	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871524	0.72065	.	.	ENSG00000141873	ENST00000545664;ENST00000269740;ENST00000455372	T;T;T	0.46819	0.86;0.86;0.86	4.89	4.89	0.63831	.	0.207216	0.43110	D	0.000602	T	0.62575	0.2439	L	0.55481	1.735	0.44402	D	0.997319	D;D;D	0.64830	0.985;0.994;0.966	P;P;P	0.62740	0.773;0.906;0.77	T	0.66292	-0.5960	10	0.72032	D	0.01	-15.7928	16.6196	0.84926	0.0:0.0:1.0:0.0	.	23;23;23	F5H385;Q9BRY0-2;Q9BRY0	.;.;S39A3_HUMAN	F	23	ENSP00000445345:S23F;ENSP00000269740:S23F;ENSP00000393715:S23F	ENSP00000269740:S23F	S	-	2	0	SLC39A3	2688188	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.116000	0.64661	2.252000	0.74401	0.561000	0.74099	TCC		0.547	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2				3	22	0	0	0	0.009096	0	3	22		
MUC16	94025	broad.mit.edu	37	19	9048660	9048660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:9048660G>C	ENST00000397910.4	-	5	33174	c.32971C>G	c.(32971-32973)Ctg>Gtg	p.L10991V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10993	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L10991V(1)|p.L6624V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGCAACCAGAGAGGTCACC	0.512																																						uc002mkp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32971-32973)CTG>GTG		mucin 16							115.0	105.0	108.0					19																	9048660		1950	4140	6090	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048660G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32971C>G	19.37:g.9048660G>C	ENSP00000381008:p.Leu10991Val						p.L10991V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33175	-			10993			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32971C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.171	-0.389965	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.49	-4.98	0.03019	.	.	.	.	.	T	0.02929	0.0087	L	0.56769	1.78	.	.	.	P	0.36683	0.565	B	0.34590	0.186	T	0.22382	-1.0218	8	0.87932	D	0	.	3.3179	0.07040	0.2425:0.0:0.2481:0.5094	.	10991	B5ME49	.	V	10991	ENSP00000381008:L10991V	ENSP00000381008:L10991V	L	-	1	2	MUC16	8909660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-1.067000	0.03160	-2.301000	0.00260	CTG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		7	66	0	0	0	0.001984	0	7	66		
WIZ	58525	broad.mit.edu	37	19	15536463	15536463	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:15536463C>T	ENST00000389282.4	-	7	3982	c.3769G>A	c.(3769-3771)Gag>Aag	p.E1257K	WIZ_ENST00000599910.2_Missense_Mutation_p.E574K|WIZ_ENST00000263381.7_Missense_Mutation_p.E400K|WIZ_ENST00000599686.3_Missense_Mutation_p.E441K|WIZ_ENST00000545156.1_Missense_Mutation_p.E571K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1257					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E571K(1)|p.E1257K(1)|p.E400K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACGGACCACTCGGTCACACCC	0.612																																						uc002nbc.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(1720-1722)GAG>AAG		widely-interspaced zinc finger motifs							45.0	45.0	45.0					19																	15536463		2085	4205	6290	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15536463C>T	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3769G>A	19.37:g.15536463C>T	ENSP00000373933:p.Glu1257Lys					WIZ_uc002nba.3_Missense_Mutation_p.E441K|WIZ_uc002nbb.3_Missense_Mutation_p.E400K	p.E574K	NM_021241	NP_067064	O95785	WIZ_HUMAN			5	1743	-			1257					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.1720G>A		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037715	0.93630	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.33865	1.39;1.39;1.39	5.39	5.39	0.77823	.	0.067141	0.64402	D	0.000017	T	0.51398	0.1672	L	0.36672	1.1	0.48696	D	0.999696	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.967	T	0.43245	-0.9403	10	0.38643	T	0.18	-32.792	17.9248	0.88980	0.0:1.0:0.0:0.0	.	1257;400;441	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	K	1257;400;441;571	ENSP00000373933:E1257K;ENSP00000263381:E400K;ENSP00000445824:E571K	ENSP00000263381:E400K	E	-	1	0	WIZ	15397463	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	7.551000	0.82182	2.531000	0.85337	0.650000	0.86243	GAG		0.612	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021241		6	32	0	0	0	0.001168	0	6	32		
KCNN1	3780	broad.mit.edu	37	19	18085055	18085055	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:18085055G>A	ENST00000222249.9	+	3	677	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	120					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.V137I(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TGGCATCGTCGTCATGGTGAC	0.642																																						uc002nht.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(358-360)GTC>ATC		potassium intermediate/small conductance							39.0	45.0	43.0					19																	18085055		2086	4242	6328	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18085055G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.358G>A	19.37:g.18085055G>A	ENSP00000476519:p.Val120Ile					KCNN1_uc010xqa.1_Missense_Mutation_p.V120I	p.V120I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			3	668	+			120			Helical; Name=Segment S1; (Potential).		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.358G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.294132	0.81025	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.27	4.27	0.50696	Potassium channel, calcium-activated, SK, conserved region (1);	0.072305	0.53938	D	0.000043	T	0.64527	0.2606	L	0.49513	1.565	0.42777	D	0.993856	P	0.49307	0.922	P	0.55222	0.771	T	0.67110	-0.5753	9	0.51188	T	0.08	-44.9707	14.2238	0.65845	0.0:0.0:1.0:0.0	.	120	Q92952	KCNN1_HUMAN	I	137;120	.	ENSP00000222249:V137I	V	+	1	0	KCNN1	17946055	1.000000	0.71417	0.982000	0.44146	0.865000	0.49528	7.579000	0.82511	2.223000	0.72356	0.491000	0.48974	GTC		0.642	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2		NM_002248		3	37	0	0	0	0.004672	0	3	37		
LIPE	3991	broad.mit.edu	37	19	42906947	42906947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:42906947C>G	ENST00000244289.4	-	9	3055	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	927					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.E927Q(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGCTCAGCTCATTTTTGGCC	0.612																																						uc002otr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2779-2781)GAG>CAG		hormone-sensitive lipase							82.0	67.0	72.0					19																	42906947		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42906947C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2779G>C	19.37:g.42906947C>G	ENSP00000244289:p.Glu927Gln					uc010eif.1_Intron	p.E927Q	NM_005357	NP_005348	Q05469	LIPS_HUMAN			9	3056	-		Prostate(69;0.00682)	927					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2779G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725052	0.30593	.	.	ENSG00000079435	ENST00000244289	T	0.03386	3.95	5.21	-2.57	0.06248	.	4.781420	0.00424	N	0.000066	T	0.05410	0.0143	L	0.57536	1.79	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.43180	-0.9407	10	0.30078	T	0.28	-1.0438	6.3062	0.21139	0.0:0.5455:0.1297:0.3248	.	927	Q05469	LIPS_HUMAN	Q	927	ENSP00000244289:E927Q	ENSP00000244289:E927Q	E	-	1	0	LIPE	47598787	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.583000	0.23849	-0.161000	0.10983	-1.287000	0.01368	GAG		0.612	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		10	38	0	0	0	0.008291	0	10	38		
ZNF415	55786	broad.mit.edu	37	19	53612598	53612598	+	Missense_Mutation	SNP	G	G	A	rs150561707	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:53612598G>A	ENST00000500065.4	-	4	1033	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ZNF415_ENST00000601493.1_Missense_Mutation_p.R4C|ZNF415_ENST00000243643.4_Missense_Mutation_p.R234C|ZNF415_ENST00000448501.1_Missense_Mutation_p.R282C|ZNF415_ENST00000455735.2_Missense_Mutation_p.R282C|ZNF415_ENST00000421033.1_Missense_Mutation_p.R246C|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R221C|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R234C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTACCTGACGTACAGTCATG	0.398													G|||	5	0.000998403	0.0038	0.0	5008	,	,		22526	0.0		0.0	False		,,,				2504	0.0					uc002qax.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(844-846)CGT>TGT		RecName: Full=Zinc finger protein 415;		G	CYS/ARG,CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	133.0	111.0	118.0		700,700,700	2.6	0.0	19	dbSNP_134	118	0,8600		0,0,4300	yes	missense,missense,missense	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	180,180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	234/556,234/556,234/556	53612598	4,13002	2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612598G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.700C>T	19.37:g.53612598G>A	ENSP00000439435:p.Arg234Cys					ZNF415_uc002qat.2_Missense_Mutation_p.R246C|ZNF415_uc002qaw.2_Missense_Mutation_p.R234C|ZNF415_uc010yds.1_Missense_Mutation_p.R234C|ZNF415_uc010ydt.1_Missense_Mutation_p.R234C|ZNF415_uc002qau.2_Missense_Mutation_p.R221C|ZNF415_uc002qav.2_Missense_Mutation_p.R246C|ZNF415_uc002qba.2_Missense_Mutation_p.R4C|ZNF415_uc002qay.2_Missense_Mutation_p.R221C|ZNF415_uc002qaz.2_Missense_Mutation_p.R282C	p.R282C	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1193	-			282			C2H2-type 1; degenerate.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.844C>T	CCDS54313.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	12.97	2.098294	0.37048	9.08E-4	0.0	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	2.61	2.61	0.31194	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18383	0.0441	L	0.29908	0.895	0.09310	N	1	P;B;P;P;P;P	0.50710	0.566;0.165;0.733;0.938;0.566;0.868	B;B;B;B;B;B	0.30855	0.121;0.011;0.057;0.064;0.121;0.101	T	0.12915	-1.0529	9	0.87932	D	0	.	12.3593	0.55194	0.0:0.0:1.0:0.0	.	234;282;282;234;221;246	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	C	234;234;282;246;282;221	ENSP00000243643:R234C;ENSP00000439435:R234C;ENSP00000396492:R282C;ENSP00000395055:R246C;ENSP00000388787:R282C;ENSP00000414601:R221C	ENSP00000243643:R234C	R	-	1	0	ZNF415	58304410	0.854000	0.29725	0.001000	0.08648	0.237000	0.25408	4.307000	0.59123	1.478000	0.48253	0.313000	0.20887	CGT		0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1		NM_018355		30	67	0	0	0	0.007291	0	30	67		
RETSAT	54884	broad.mit.edu	37	2	85577947	85577947	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:85577947G>C	ENST00000295802.4	-	3	665	c.553C>G	c.(553-555)Cca>Gca	p.P185A	RETSAT_ENST00000457495.2_Missense_Mutation_p.P124A|RETSAT_ENST00000263854.6_Missense_Mutation_p.P185A	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	185					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.P185A(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCCTCCTGTGGAAACTTCTCC	0.468																																						uc002spd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(553-555)CCA>GCA		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)						149.0	143.0	145.0					2																	85577947		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85577947G>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.553C>G	2.37:g.85577947G>C	ENSP00000295802:p.Pro185Ala					RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.P124A|RETSAT_uc010fgf.2_Intron	p.P185A	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			3	744	-			185					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.553C>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.886915|4.886915	0.91814|0.91814	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	T|T;T;T	0.09911|0.59502	2.93|0.26;0.26;0.26	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81823|0.81823	0.4904|0.4904	M|M	0.90977|0.90977	3.165|3.165	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	D|D	0.85069|0.85069	0.0939|0.0939	7|10	0.54805|0.87932	T|D	0.06|0	-22.3392|-22.3392	17.8186|17.8186	0.88643|0.88643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;185	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	L|A	123|185;185;124	ENSP00000387196:F123L|ENSP00000295802:P185A;ENSP00000263854:P185A;ENSP00000405040:P124A	ENSP00000387196:F123L|ENSP00000263854:P185A	F|P	-|-	3|1	2|0	RETSAT|RETSAT	85431458|85431458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	9.707000|9.707000	0.98725|0.98725	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	TTC|CCA		0.468	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1		NM_017750		6	152	0	0	0	0.001168	0	6	152		
EIF2AK3	9451	broad.mit.edu	37	2	88888374	88888374	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:88888374G>A	ENST00000303236.3	-	7	1512	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S253L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	404					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.S404L(1)		ovary(3)	3						AAACTTTTCTGAAATTCTGAC	0.348																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1210-1212)TCA>TTA		eukaryotic translation initiation factor 2-alpha							128.0	126.0	127.0					2																	88888374		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88888374G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1211C>T	2.37:g.88888374G>A	ENSP00000307235:p.Ser404Leu						p.S404L	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			7	1413	-			404			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1211C>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706891	0.89018	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74209	-0.69;-0.65;-0.82	5.76	5.76	0.90799	.	0.124085	0.56097	D	0.000038	T	0.80221	0.4583	L	0.55481	1.735	0.46725	D	0.999171	D	0.56521	0.976	P	0.52481	0.7	T	0.80632	-0.1296	10	0.56958	D	0.05	-15.1568	19.9731	0.97292	0.0:0.0:1.0:0.0	.	404	Q9NZJ5	E2AK3_HUMAN	L	253;404;253;283	ENSP00000408325:S253L;ENSP00000307235:S404L;ENSP00000412076:S283L	ENSP00000307235:S404L	S	-	2	0	EIF2AK3	88669489	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.358000	0.66064	2.715000	0.92844	0.563000	0.77884	TCA		0.348	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836		25	78	0	0	0	0.00632	0	25	78		
NFE2L2	4780	broad.mit.edu	37	2	178098954	178098954	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:178098954C>T	ENST00000397062.3	-	2	645	c.91G>A	c.(91-93)Gga>Aga	p.G31R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CGACTTACTCCAAGATCTATA	0.358			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		2	Substitution - Missense(2)	p.G31R(1)	urinary_tract(1)|central_nervous_system(1)	central_nervous_system(1)	1						c.(91-93)GGA>AGA		nuclear factor erythroid 2-like 2 isoform 1							69.0	62.0	64.0					2																	178098954		1840	4101	5941	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098954C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.91G>A	2.37:g.178098954C>T	ENSP00000380252:p.Gly31Arg	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G15R|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15R|NFE2L2_uc002uli.3_Missense_Mutation_p.G15R|NFE2L2_uc010fra.2_Missense_Mutation_p.G15R|NFE2L2_uc010frb.2_Missense_Mutation_p.G15R	p.G31R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	646	-			31					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.91G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385089	0.82792	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	R	15;31;15;15;15;15;15	ENSP00000380253:G15R;ENSP00000380252:G31R;ENSP00000411575:G15R;ENSP00000391590:G15R;ENSP00000400073:G15R;ENSP00000412191:G15R;ENSP00000410015:G15R	ENSP00000380252:G31R	G	-	1	0	NFE2L2	177807200	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GGA		0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		11	35	0	0	0	0.010729	0	11	35		
AOX1	316	broad.mit.edu	37	2	201515748	201515748	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:201515748G>A	ENST00000374700.2	+	26	3140	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	967					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.E967K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTACAAACAAGAGATCAATGC	0.418																																						uc002uvx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2899-2901)GAG>AAG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						137.0	125.0	129.0					2																	201515748		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515748G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2899G>A	2.37:g.201515748G>A	ENSP00000363832:p.Glu967Lys					AOX1_uc010zhf.1_Missense_Mutation_p.E523K|AOX1_uc010fsu.2_Missense_Mutation_p.E333K	p.E967K	NM_001159	NP_001150	Q06278	ADO_HUMAN			26	3000	+			967					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2899G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567385	0.28003	.	.	ENSG00000138356	ENST00000374700	T	0.37584	1.19	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.308067	0.36002	N	0.002851	T	0.24586	0.0596	L	0.28649	0.875	0.58432	D	0.999998	B	0.17465	0.022	B	0.21360	0.034	T	0.04781	-1.0927	10	0.06891	T	0.86	-27.9096	13.0653	0.59030	0.0822:0.0:0.9178:0.0	.	967	Q06278	ADO_HUMAN	K	967	ENSP00000363832:E967K	ENSP00000363832:E967K	E	+	1	0	AOX1	201223993	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.589000	0.36644	2.826000	0.97356	0.655000	0.94253	GAG		0.418	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159		13	79	0	0	0	0.003163	0	13	79		
SPTLC3	55304	broad.mit.edu	37	20	13098330	13098330	+	Silent	SNP	C	C	T	rs373903172		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:13098330C>T	ENST00000399002.2	+	8	1384	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	370					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.T370T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GCACATTCACCAAAAGTTTTG	0.542																																						uc002wod.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1108-1110)ACC>ACT		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)	C		0,3804		0,0,1902	76.0	77.0	77.0		1110	4.0	1.0	20		77	1,8237		0,1,4118	no	coding-synonymous	SPTLC3	NM_018327.2		0,1,6020	TT,TC,CC		0.0121,0.0,0.0083		370/553	13098330	1,12041	1902	4119	6021	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098330C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1110C>T	20.37:g.13098330C>T							p.T370T	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			8	1399	+			370					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.1110C>T	CCDS13115.2																																																																																				0.542	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1		NM_018327		13	81	0	0	0	0.013537	0	13	81		
CRNKL1	51340	broad.mit.edu	37	20	20024216	20024216	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:20024216C>G	ENST00000377340.2	-	8	1406	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E447Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E298Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	459	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E459Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AACTTCTTCTCAAAGATGGTA	0.408																																						uc002wrs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(1375-1377)GAG>CAG		crooked neck-like 1 protein							137.0	133.0	135.0					20																	20024216		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20024216C>G	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1375G>C	20.37:g.20024216C>G	ENSP00000366557:p.Glu459Gln						p.E459Q	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			8	1407	-			459			HAT 7.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1375G>C	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332659	0.81801	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.46819	0.86;0.86;0.86	6.07	6.07	0.98685	.	0.043574	0.85682	D	0.000000	T	0.54111	0.1838	M	0.76328	2.33	0.80722	D	1	P	0.36378	0.55	B	0.35688	0.208	T	0.55088	-0.8195	10	0.48119	T	0.1	-22.6554	20.6439	0.99570	0.0:1.0:0.0:0.0	.	459	Q9BZJ0	CRNL1_HUMAN	Q	447;459;298	ENSP00000366544:E447Q;ENSP00000366557:E459Q;ENSP00000440733:E298Q	ENSP00000366544:E447Q	E	-	1	0	CRNKL1	19972216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.884000	0.98904	0.655000	0.94253	GAG		0.408	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				5	103	0	0	0	0.014758	0	5	103		
ZNF512B	57473	broad.mit.edu	37	20	62657330	62657330	+	Intron	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:62657330G>A	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V649V(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCAGCCGTGAAGCTGGAGT	0.652																																						uc002yho.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1945-1947)GTG>GTA		PRP6 pre-mRNA processing factor 6 homolog							159.0	162.0	161.0					20																	62657330		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62657330G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22727C>T	20.37:g.62657330G>A						PRPF6_uc002yhp.2_Intron	p.V649V	NM_012469	NP_036601	O94906	PRP6_HUMAN			15	2115	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		649			HAT 6.		Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.1947G>A	CCDS13548.1																																																																																				0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		62	207	0	0	0	0.01441	0	62	207		
SCAF4	57466	broad.mit.edu	37	21	33076226	33076226	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr21:33076226T>A	ENST00000286835.7	-	4	555	c.173A>T	c.(172-174)tAc>tTc	p.Y58F	SCAF4_ENST00000399804.1_Missense_Mutation_p.Y58F|SCAF4_ENST00000434667.3_Missense_Mutation_p.Y43F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	58	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y58F(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CGGAACCTTGTATTCTGGTTT	0.348																																						uc002ypd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(172-174)TAC>TTC		splicing factor, arginine/serine-rich 15 isoform							77.0	72.0	74.0					21																	33076226		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33076226T>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.173A>T	21.37:g.33076226T>A	ENSP00000286835:p.Tyr58Phe					SFRS15_uc002ype.2_Missense_Mutation_p.Y58F|SFRS15_uc010glu.2_Missense_Mutation_p.Y43F|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.Y58F	p.Y58F	NM_020706	NP_065757	O95104	SFR15_HUMAN			4	599	-			58			CID.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.173A>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265492	0.80358	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42131	0.98;0.98;0.98	5.83	5.83	0.93111	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.136032	0.52532	D	0.000076	T	0.64724	0.2624	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.85130	0.993;0.993;0.997;0.993	T	0.66416	-0.5929	10	0.54805	T	0.06	-6.6373	16.2127	0.82178	0.0:0.0:0.0:1.0	.	43;58;58;58	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	F	43;58;58	ENSP00000402377:Y43F;ENSP00000286835:Y58F;ENSP00000382703:Y58F	ENSP00000286835:Y58F	Y	-	2	0	SCAF4	31998097	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	8.040000	0.89188	2.236000	0.73375	0.533000	0.62120	TAC		0.348	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		3	44	0	0	0	0.004672	0	3	44		
SETD5	55209	broad.mit.edu	37	3	9483388	9483388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:9483388C>T	ENST00000406341.1	+	8	1112	c.922C>T	c.(922-924)Cga>Tga	p.R308*	SETD5_ENST00000302463.6_Nonsense_Mutation_p.R210*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.R327*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.R210*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.R308*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	308	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.							p.R210*(1)|p.R308*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGTCATGTTACGACAGCAATT	0.443																																						uc003brt.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)	2						c.(922-924)CGA>TGA		SET domain containing 5							161.0	154.0	156.0					3																	9483388		1921	4133	6054	SO:0001587	stop_gained	55209							g.chr3:9483388C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.922C>T	3.37:g.9483388C>T	ENSP00000383939:p.Arg308*					SETD5_uc003brs.1_Nonsense_Mutation_p.R289*|SETD5_uc003bru.2_Nonsense_Mutation_p.R210*|SETD5_uc003brv.2_Nonsense_Mutation_p.R197*|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	p.R308*	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1357	+	Medulloblastoma(99;0.227)		308			SET.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	c.922C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	44	10.627803	0.99440	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	5.76	5.76	0.90799	.	0.071100	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2353	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	X	308;210;308;327;210	.	ENSP00000302028:R210X	R	+	1	2	SETD5	9458388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.126000	0.50477	2.882000	0.98803	0.655000	0.94253	CGA		0.443	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1		XM_371614		14	80	0	0	0	0.004007	0	14	80		
SCN11A	11280	broad.mit.edu	37	3	38888407	38888407	+	Missense_Mutation	SNP	C	C	G	rs267599809		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:38888407C>G	ENST00000302328.3	-	26	5352	c.5154G>C	c.(5152-5154)aaG>aaC	p.K1718N	SCN11A_ENST00000450244.1_Missense_Mutation_p.K1718N|SCN11A_ENST00000456224.3_Missense_Mutation_p.K1680N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1718					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1718N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATACAACTTCTTGAGAGGAT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		23241	0.001		0.0	False		,,,				2504	0.0					uc011ays.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(5152-5154)AAG>AAC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						228.0	221.0	224.0					3																	38888407		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888407C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5154G>C	3.37:g.38888407C>G	ENSP00000307599:p.Lys1718Asn						p.K1718N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5353	-			1718					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5154G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845559	0.51164	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96992	-4.2;-4.2;-4.16	5.26	4.36	0.52297	.	0.107337	0.64402	D	0.000007	D	0.95639	0.8582	M	0.90198	3.095	0.23716	N	0.997035	B	0.31680	0.335	B	0.31016	0.123	D	0.92119	0.5702	10	0.87932	D	0	.	6.463	0.21966	0.0:0.6806:0.1607:0.1587	.	1718	Q9UI33	SCNBA_HUMAN	N	1718;1718;1680	ENSP00000307599:K1718N;ENSP00000400945:K1718N;ENSP00000416757:K1680N	ENSP00000307599:K1718N	K	-	3	2	SCN11A	38863411	0.344000	0.24827	0.930000	0.37139	0.981000	0.71138	0.146000	0.16180	1.147000	0.42369	0.650000	0.86243	AAG		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		35	145	0	0	0	0.021022	0	35	145		
ALCAM	214	broad.mit.edu	37	3	105243325	105243325	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:105243325G>A	ENST00000306107.5	+	3	867	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ALCAM_ENST00000472644.2_Missense_Mutation_p.E123K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E72K|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	123					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.E123K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAACGTGTTTGAGGCACCTAC	0.418																																						uc003dvx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(367-369)GAG>AAG		activated leukocyte cell adhesion molecule							187.0	169.0	175.0					3																	105243325		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105243325G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.367G>A	3.37:g.105243325G>A	ENSP00000305988:p.Glu123Lys					ALCAM_uc003dvv.2_Missense_Mutation_p.E123K|ALCAM_uc003dvw.1_Missense_Mutation_p.E123K|ALCAM_uc003dvy.2_Missense_Mutation_p.E123K|ALCAM_uc011bhh.1_Missense_Mutation_p.E72K	p.E123K	NM_001627	NP_001618	Q13740	CD166_HUMAN			3	907	+			123			Extracellular (Potential).		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.367G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203864	0.95033	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.66099	-0.19;-0.19;1.63	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.995	T	0.77143	-0.2696	10	0.51188	T	0.08	-20.6143	20.0442	0.97604	0.0:0.0:1.0:0.0	.	123;123;123	B4DTU0;Q13740;Q6PEY4	.;CD166_HUMAN;.	K	123;123;72	ENSP00000305988:E123K;ENSP00000419236:E123K;ENSP00000418213:E72K	ENSP00000305988:E123K	E	+	1	0	ALCAM	106726015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.722000	0.74735	2.814000	0.96858	0.655000	0.94253	GAG		0.418	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		NM_001627		21	64	0	0	0	0.012319	0	21	64		
MAATS1	89876	broad.mit.edu	37	3	119451310	119451310	+	Silent	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:119451310C>G	ENST00000273390.5	+	9	1265	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)		p.L396L(1)									ACTACTATCTCAACACCTATG	0.323																																						uc003ede.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1186-1188)CTC>CTG		AAT1-alpha							33.0	34.0	34.0					3																	119451310		2203	4299	6502	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119451310C>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1188C>G	3.37:g.119451310C>G						C3orf15_uc010hqy.1_Silent_p.L396L|C3orf15_uc010hqz.2_Silent_p.L334L|C3orf15_uc011bjd.1_Silent_p.L270L|C3orf15_uc011bje.1_Silent_p.L376L|C3orf15_uc010hra.1_Silent_p.L157L	p.L396L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	9	1265	+			Error:Variant_position_missing_in_Q7Z4T9_after_alignment					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1188C>G	CCDS2994.1																																																																																				0.323	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1		NM_033364		9	19	0	0	0	0.004482	0	9	19		
GK5	256356	broad.mit.edu	37	3	141889249	141889249	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:141889249G>A	ENST00000392993.2	-	15	1510	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	453					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.D453D(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CATTAATCAGGTCTGAAGTCA	0.408																																						uc003euq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1357-1359)GAC>GAT		glycerol kinase 5 (putative)							102.0	101.0	102.0					3																	141889249		2203	4300	6503	SO:0001819	synonymous_variant	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141889249G>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1359C>T	3.37:g.141889249G>A						GK5_uc003eup.1_Silent_p.D174D|GK5_uc010hus.1_RNA	p.D453D	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN			15	1490	-			453					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	ENST00000392993.2	37	c.1359C>T	CCDS33871.1																																																																																				0.408	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1		NM_001039547		4	64	0	0	0	0.009096	0	4	64		
MBNL1	4154	broad.mit.edu	37	3	152018007	152018007	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:152018007C>T	ENST00000463374.1	+	1	536	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	MBNL1_ENST00000492948.1_Missense_Mutation_p.R9W|MBNL1_ENST00000355460.2_Missense_Mutation_p.R9W|MBNL1_ENST00000485910.1_Missense_Mutation_p.R9W|MBNL1_ENST00000282488.7_Missense_Mutation_p.R9W|MBNL1_ENST00000324196.5_Missense_Mutation_p.R9W|MBNL1_ENST00000545754.1_Missense_Mutation_p.R9W|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000485509.1_Missense_Mutation_p.R9W|MBNL1_ENST00000282486.6_Missense_Mutation_p.R9W|MBNL1_ENST00000324210.5_Missense_Mutation_p.R9W|MBNL1_ENST00000498502.1_Missense_Mutation_p.R9W|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.R9W	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	9					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R9W(6)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACACCAATTCGGGACACAAA	0.438																																						uc003ezm.2		NaN																	6	Substitution - Missense(6)		urinary_tract(3)|endometrium(3)	ovary(1)	1						c.(25-27)CGG>TGG		muscleblind-like 1 isoform c							86.0	79.0	82.0					3																	152018007		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152018007C>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.25C>T	3.37:g.152018007C>T	ENSP00000418108:p.Arg9Trp					MBNL1_uc003ezh.2_Missense_Mutation_p.R9W|MBNL1_uc003ezi.2_Missense_Mutation_p.R9W|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.R9W|MBNL1_uc003ezp.2_Missense_Mutation_p.R9W|MBNL1_uc003ezn.2_Missense_Mutation_p.R9W|MBNL1_uc003ezo.2_Missense_Mutation_p.R9W|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	p.R9W	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	814	+			9					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.25C>T	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172794	0.38413	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.87269	2.87	0.80722	D	1	D;B;B;B;D;D;D	0.89917	1.0;0.006;0.014;0.094;1.0;1.0;1.0	D;B;B;B;D;D;D	0.97110	0.997;0.001;0.002;0.111;1.0;1.0;1.0	D	0.85683	0.1302	10	0.87932	D	0	.	19.297	0.94126	0.0:1.0:0.0:0.0	.	9;9;9;9;9;9;9	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92	.;.;.;MBNL1_HUMAN;.;.;.	W	9	ENSP00000282486:R9W;ENSP00000282488:R9W;ENSP00000347637:R9W;ENSP00000319429:R9W;ENSP00000420327:R9W;ENSP00000319374:R9W;ENSP00000437491:R9W;ENSP00000350064:R9W;ENSP00000418427:R9W;ENSP00000418108:R9W;ENSP00000417630:R9W;ENSP00000420103:R9W;ENSP00000418876:R9W	ENSP00000282486:R9W	R	+	1	2	MBNL1	153500697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.716000	0.61916	2.561000	0.86390	0.586000	0.80456	CGG		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1		NM_021038		14	49	0	0	0	0.004007	0	14	49		
TBL1XR1	79718	broad.mit.edu	37	3	176752109	176752109	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:176752109C>A	ENST00000430069.1	-	13	1386	c.1127G>T	c.(1126-1128)tGg>tTg	p.W376L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.W376L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	376					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)	p.W376L(1)		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)			TTTCATACTCCATATCTAAAC	0.269																																						uc003fiw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1126-1128)TGG>TTG		transducin (beta)-like 1 X-linked receptor 1							63.0	58.0	59.0					3																	176752109		1805	4067	5872	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.chr3:176752109C>A	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.1127G>T	3.37:g.176752109C>A	ENSP00000405574:p.Trp376Leu					TBL1XR1_uc003fix.3_Missense_Mutation_p.W376L|TBL1XR1_uc011bpz.1_Missense_Mutation_p.W48L	p.W376L	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		13	1387	-	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)	376			WD 5.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.1127G>T	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042378	0.93685	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.83506	-1.73;-1.73	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.94634	0.7824	10	0.87932	D	0	-2.3758	18.7223	0.91700	0.0:1.0:0.0:0.0	.	376	Q9BZK7	TBL1R_HUMAN	L	376;376;238	ENSP00000405574:W376L;ENSP00000413251:W376L	ENSP00000405574:W376L	W	-	2	0	TBL1XR1	178234803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.817000	0.86213	2.672000	0.90937	0.650000	0.86243	TGG		0.269	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3		NM_024665		6	13	1	0	0.00116845	0.001168	0.00123604	6	13		
EVC2	132884	broad.mit.edu	37	4	5633669	5633669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:5633669C>T	ENST00000344408.5	-	11	1614	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	EVC2_ENST00000344938.1_Missense_Mutation_p.D521N|EVC2_ENST00000310917.2_Missense_Mutation_p.D441N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	521					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E520delE(1)|p.D521N(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTGGCAAAGTCTTCTTCTTGT	0.468																																						uc003gij.2		NaN																	2	Substitution - Missense(1)|Deletion - In frame(1)		urinary_tract(1)|large_intestine(1)	large_intestine(3)|ovary(2)	5						c.(1561-1563)GAC>AAC		limbin							100.0	102.0	101.0					4																	5633669		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5633669C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1561G>A	4.37:g.5633669C>T	ENSP00000342144:p.Asp521Asn					EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.D441N	p.D521N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			11	1615	-			521			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1561G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035412	0.19590	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77620	-1.11;-1.11;-1.11	4.79	4.79	0.61399	.	0.063988	0.64402	D	0.000008	D	0.83940	0.5363	M	0.62723	1.935	0.24437	N	0.994546	D	0.76494	0.999	D	0.72338	0.977	T	0.74714	-0.3572	10	0.21014	T	0.42	-37.423	12.9357	0.58313	0.1729:0.8271:0.0:0.0	.	521	Q86UK5	LBN_HUMAN	N	521;441;521	ENSP00000339954:D521N;ENSP00000311683:D441N;ENSP00000342144:D521N	ENSP00000311683:D441N	D	-	1	0	EVC2	5684570	0.988000	0.35896	0.076000	0.20297	0.052000	0.14988	3.037000	0.49775	2.353000	0.79882	0.505000	0.49811	GAC		0.468	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		5	89	0	0	0	0.014758	0	5	89		
RFC1	5981	broad.mit.edu	37	4	39290425	39290425	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:39290425C>G	ENST00000381897.1	-	25	3536	c.3403G>C	c.(3403-3405)Gat>Cat	p.D1135H	RFC1_ENST00000349703.2_Missense_Mutation_p.D1134H	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1135					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.D1135H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCTCCTTATCTTTTTCTGGT	0.363																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(3403-3405)GAT>CAT		replication factor C large subunit							111.0	119.0	116.0					4																	39290425		2201	4299	6500	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39290425C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3403G>C	4.37:g.39290425C>G	ENSP00000371321:p.Asp1135His					RFC1_uc003gtx.1_Missense_Mutation_p.D1134H	p.D1135H	NM_002913	NP_002904	P35251	RFC1_HUMAN			25	3537	-			1135					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3403G>C	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279381	0.59758	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.12147	2.71;2.71	5.81	4.92	0.64577	.	0.455332	0.24359	N	0.039211	T	0.10078	0.0247	N	0.19112	0.55	0.39334	D	0.96547	B;B	0.20052	0.024;0.041	B;B	0.23150	0.02;0.044	T	0.11991	-1.0565	10	0.42905	T	0.14	-9.2441	12.0513	0.53507	0.0:0.827:0.173:0.0	.	1135;1134	P35251;P35251-2	RFC1_HUMAN;.	H	1135;1134	ENSP00000371321:D1135H;ENSP00000261424:D1134H	ENSP00000261424:D1134H	D	-	1	0	RFC1	38966820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.361000	0.34136	2.746000	0.94184	0.591000	0.81541	GAT		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913		17	50	0	0	0	0.006122	0	17	50		
FAT1	2195	broad.mit.edu	37	4	187549509	187549509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549509G>A	ENST00000441802.2	-	9	4818	c.4609C>T	c.(4609-4611)Caa>Taa	p.Q1537*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1537	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1537*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCACATCTTGATCTCGTACC	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4609-4611)CAA>TAA		FAT tumor suppressor 1 precursor							57.0	58.0	58.0					4																	187549509		2009	4175	6184	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549509G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4609C>T	4.37:g.187549509G>A	ENSP00000406229:p.Gln1537*	HNSCC(5;0.00058)					p.Q1537*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	4797	-			1537			Extracellular (Potential).|Cadherin 13.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4609C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	46	12.308264	0.99656	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	.	.	.	X	1537;1536	.	ENSP00000260147:Q1536X	Q	-	1	0	FAT1	187786503	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.657000	0.98554	2.797000	0.96272	0.563000	0.77884	CAA		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		7	9	0	0	0	0.004482	0	7	9		
FAT1	2195	broad.mit.edu	37	4	187549807	187549807	+	Silent	SNP	G	G	T	rs376344008		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549807G>T	ENST00000441802.2	-	8	4643	c.4434C>A	c.(4432-4434)atC>atA	p.I1478I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1478	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1478I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCACAGCACTGATTTGCAAAA	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4432-4434)ATC>ATA		FAT tumor suppressor 1 precursor							116.0	110.0	112.0					4																	187549807		1864	4102	5966	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549807G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4434C>A	4.37:g.187549807G>T		HNSCC(5;0.00058)					p.I1478I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			8	4622	-			1478			Extracellular (Potential).|Cadherin 13.			Silent	SNP	ENST00000441802.2	37	c.4434C>A	CCDS47177.1																																																																																				0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		20	25	1	0	4.96729e-08	0.008871	5.48115e-08	20	25		
CTNND2	1501	broad.mit.edu	37	5	11346575	11346575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:11346575C>T	ENST00000304623.8	-	9	1726	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	CTNND2_ENST00000359640.2_Missense_Mutation_p.E513K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.E80K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E176K|CTNND2_ENST00000511377.1_Missense_Mutation_p.E422K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	513					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E513K(1)|p.E513*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TATGGAGACTCAACAGAGGGA	0.607																																						uc003jfa.1		NaN																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|endometrium(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1537-1539)GAG>AAG		catenin (cadherin-associated protein), delta 2							108.0	113.0	111.0					5																	11346575		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346575C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1537G>A	5.37:g.11346575C>T	ENSP00000307134:p.Glu513Lys					CTNND2_uc010itt.2_Missense_Mutation_p.E422K|CTNND2_uc011cmy.1_Missense_Mutation_p.E176K|CTNND2_uc011cmz.1_Missense_Mutation_p.E80K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.E80K	p.E513K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1682	-			513					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1537G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009064	0.93346	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78707	-1.12;-1.2;-1.12;-1.2;-1.18	5.9	5.9	0.94986	.	0.297748	0.32819	N	0.005605	T	0.74921	0.3780	L	0.55481	1.735	0.39841	D	0.97311	P;B;P	0.43094	0.546;0.079;0.799	B;B;B	0.35931	0.073;0.016;0.214	T	0.79232	-0.1888	10	0.66056	D	0.02	-4.1622	20.3298	0.98711	0.0:1.0:0.0:0.0	.	176;80;513	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	513;513;422;80;176	ENSP00000307134:E513K;ENSP00000352661:E513K;ENSP00000426510:E422K;ENSP00000391155:E80K;ENSP00000426887:E176K	ENSP00000307134:E513K	E	-	1	0	CTNND2	11399575	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	7.456000	0.80751	2.810000	0.96702	0.585000	0.79938	GAG		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		26	96	0	0	0	0.009535	0	26	96		
VCAN	1462	broad.mit.edu	37	5	82868358	82868358	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:82868358T>G	ENST00000265077.3	+	13	10424	c.9859T>G	c.(9859-9861)Tat>Gat	p.Y3287D	VCAN_ENST00000342785.4_Missense_Mutation_p.Y1533D|VCAN_ENST00000502527.2_Missense_Mutation_p.Y546D|VCAN_ENST00000343200.5_Missense_Mutation_p.Y2300D|VCAN_ENST00000512590.2_Missense_Mutation_p.Y1485D|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3287	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.Y3287D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCATCTCACCTATACGTGCAA	0.383																																						uc003kii.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9859-9861)TAT>GAT		versican isoform 1 precursor							159.0	143.0	148.0					5																	82868358		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82868358T>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9859T>G	5.37:g.82868358T>G	ENSP00000265077:p.Tyr3287Asp					VCAN_uc003kij.3_Missense_Mutation_p.Y2300D|VCAN_uc010jau.2_Missense_Mutation_p.Y1533D|VCAN_uc003kik.3_Missense_Mutation_p.Y546D|VCAN_uc003kil.3_Missense_Mutation_p.Y1951D	p.Y3287D	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	13	10215	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3287			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9859T>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604494	0.87157	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.94	5.94	0.96194	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.48286	D	0.000184	T	0.60689	0.2288	H	0.95224	3.64	0.49483	D	0.999796	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.97110	0.997;0.952;0.997;1.0	T	0.73672	-0.3909	10	0.87932	D	0	.	16.3945	0.83586	0.0:0.0:0.0:1.0	.	1533;546;2300;3287	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	D	3287;2300;1533;1485;546	ENSP00000265077:Y3287D;ENSP00000340062:Y2300D;ENSP00000342768:Y1533D;ENSP00000425959:Y1485D;ENSP00000421362:Y546D	ENSP00000265077:Y3287D	Y	+	1	0	VCAN	82904114	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.040000	0.89188	2.265000	0.75225	0.482000	0.46254	TAT		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		12	47	0	0	0	0.013537	0	12	47		
F12	2161	broad.mit.edu	37	5	176833003	176833003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:176833003G>A	ENST00000253496.3	-	3	223	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	59	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.H59Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GTACATTTGTGGTACAGCTGC	0.607									Hereditary Angioedema																													uc003mgo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)CAC>TAC		coagulation factor XII precursor							89.0	94.0	92.0					5																	176833003		2203	4300	6503	SO:0001583	missense	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833003G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.175C>T	5.37:g.176833003G>A	ENSP00000253496:p.His59Tyr					F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	p.H59Y	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	224	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	59			Fibronectin type-II.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.175C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761548	0.15914	.	.	ENSG00000131187	ENST00000253496	T	0.48836	0.8	5.31	2.58	0.30949	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.419219	0.20251	N	0.096061	T	0.32941	0.0846	L	0.28504	0.86	0.25913	N	0.983217	B	0.12013	0.005	B	0.16722	0.016	T	0.22452	-1.0216	10	0.51188	T	0.08	.	7.2946	0.26385	0.3504:0.0:0.6496:0.0	.	59	P00748	FA12_HUMAN	Y	59	ENSP00000253496:H59Y	ENSP00000253496:H59Y	H	-	1	0	F12	176765609	0.210000	0.23517	0.005000	0.12908	0.240000	0.25518	0.201000	0.17276	0.259000	0.21709	0.591000	0.81541	CAC		0.607	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1				32	112	0	0	0	0.019004	0	32	112		
BTN3A3	10384	broad.mit.edu	37	6	26452381	26452381	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:26452381C>T	ENST00000244519.2	+	11	1740	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	BTN3A3_ENST00000339789.4_Silent_p.F457F|BTN3A3_ENST00000361232.3_Silent_p.F450F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	499	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F499F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCCTGTTTTCAGAATTTTGA	0.478																																						uc003nhz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1495-1497)TTC>TTT		butyrophilin, subfamily 3, member A3 isoform a							99.0	96.0	97.0					6																	26452381		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452381C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1497C>T	6.37:g.26452381C>T						BTN3A3_uc003nia.2_Silent_p.F457F|BTN3A3_uc011dkn.1_Silent_p.F450F	p.F499F	NM_006994	NP_008925	O00478	BT3A3_HUMAN			11	1677	+			499			B30.2/SPRY.|Cytoplasmic (Potential).		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1497C>T	CCDS4611.1																																																																																				0.478	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2		NM_006994		5	124	0	0	0	0.001168	0	5	124		
ORC3	23595	broad.mit.edu	37	6	88317511	88317511	+	Missense_Mutation	SNP	C	C	T	rs149324991	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:88317511C>T	ENST00000392844.3	+	6	596	c.548C>T	c.(547-549)tCa>tTa	p.S183L	ORC3_ENST00000257789.4_Missense_Mutation_p.S183L|ORC3_ENST00000546266.1_Missense_Mutation_p.S40L|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.S130L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	183					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.S183L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TCAATGGATTCACTTTCCAGT	0.373													C|||	8	0.00159744	0.0061	0.0	5008	,	,		18317	0.0		0.0	False		,,,				2504	0.0					uc003pmh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(547-549)TCA>TTA		origin recognition complex, subunit 3 isoform 2		C	LEU/SER,LEU/SER,LEU/SER	23,4383	29.9+/-59.1	0,23,2180	126.0	112.0	117.0		119,548,548	-1.8	0.6	6	dbSNP_134	117	0,8600		0,0,4300	yes	missense,missense,missense	ORC3	NM_001197259.1,NM_012381.3,NM_181837.2	145,145,145	0,23,6480	TT,TC,CC		0.0,0.522,0.1768	benign,benign,benign	40/569,183/712,183/713	88317511	23,12983	2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88317511C>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.548C>T	6.37:g.88317511C>T	ENSP00000376586:p.Ser183Leu					ORC3L_uc011dzl.1_Missense_Mutation_p.S183L|ORC3L_uc011dzm.1_Missense_Mutation_p.S183L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S183L|ORC3L_uc003pmi.2_Missense_Mutation_p.S183L|ORC3L_uc011dzo.1_Missense_Mutation_p.S40L|ORC3L_uc011dzp.1_Missense_Mutation_p.S40L	p.S183L	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	6	592	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	183					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.548C>T	CCDS43486.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.509	0.278941	0.10458	0.00522	0.0	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.71	-1.77	0.07982	.	0.556880	0.20789	N	0.085644	T	0.03477	0.0100	L	0.55481	1.735	0.23602	N	0.99732	B;B;B;B	0.10296	0.002;0.003;0.001;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.002	T	0.49062	-0.8978	10	0.10636	T	0.68	-6.7978	11.7055	0.51595	0.0:0.5325:0.0:0.4675	.	183;183;183;183	B7ZAI3;B7Z8A5;Q9UBD5;Q9UBD5-2	.;.;ORC3_HUMAN;.	L	183;183;40;130	ENSP00000376586:S183L;ENSP00000257789:S183L;ENSP00000444695:S40L;ENSP00000390176:S130L	ENSP00000257789:S183L	S	+	2	0	ORC3	88374230	0.591000	0.26824	0.586000	0.28679	0.862000	0.49288	0.824000	0.27379	-0.239000	0.09710	0.585000	0.79938	TCA		0.373	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2				23	65	0	0	0	0.01892	0	23	65		
BCLAF1	9774	broad.mit.edu	37	6	136599223	136599223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:136599223G>A	ENST00000531224.1	-	4	1048	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q266*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q266*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	266					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q266*(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGACTATGCTGAATGGAATGT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(796-798)CAG>TAG		BCL2-associated transcription factor 1 isoform							116.0	109.0	111.0					6																	136599223		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599223G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.796C>T	6.37:g.136599223G>A	ENSP00000435210:p.Gln266*					BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q266*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q264*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q264*	p.Q266*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1049	-	Colorectal(23;0.24)		266					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.796C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054975	0.93793	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-9.033	15.569	0.76320	0.0:0.1372:0.8628:0.0	.	.	.	.	X	266;264;266;266;264;264;266	.	ENSP00000229446:Q264X	Q	-	1	0	BCLAF1	136640916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.235000	0.65348	2.754000	0.94517	0.650000	0.86243	CAG		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		5	38	0	0	0	0.014758	0	5	38		
UTRN	7402	broad.mit.edu	37	6	144803379	144803379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:144803379G>A	ENST00000367545.3	+	26	3542	c.3542G>A	c.(3541-3543)aGa>aAa	p.R1181K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1181					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1181K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGGAGGTGAGAGTGAAGATT	0.453																																						uc003qkt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(3541-3543)AGA>AAA		utrophin							131.0	127.0	128.0					6																	144803379		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144803379G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3542G>A	6.37:g.144803379G>A	ENSP00000356515:p.Arg1181Lys						p.R1181K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	26	3634	+		Ovarian(120;0.218)	1181			Spectrin 8.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3542G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534302	0.13188	.	.	ENSG00000152818	ENST00000367545	T	0.52057	0.68	5.51	4.65	0.58169	.	0.130715	0.34133	N	0.004233	T	0.06462	0.0166	N	0.00926	-1.1	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.31724	-0.9933	10	0.02654	T	1	.	14.3272	0.66528	0.0714:0.0:0.9286:0.0	.	1181	P46939	UTRO_HUMAN	K	1181	ENSP00000356515:R1181K	ENSP00000356515:R1181K	R	+	2	0	UTRN	144845072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.451000	0.66632	1.323000	0.45263	0.563000	0.77884	AGA		0.453	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				9	33	0	0	0	0.008291	0	9	33		
LANCL2	55915	broad.mit.edu	37	7	55459492	55459492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:55459492C>G	ENST00000254770.2	+	2	789	c.211C>G	c.(211-213)Cat>Gat	p.H71D		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	71					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.H71D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCAGATCATTCATAATTTCAT	0.363																																						uc003tqp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(211-213)CAT>GAT		LanC lantibiotic synthetase component C-like 2							59.0	60.0	60.0					7																	55459492		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55459492C>G	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.211C>G	7.37:g.55459492C>G	ENSP00000254770:p.His71Asp						p.H71D	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		2	789	+	Breast(14;0.0379)		71					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.211C>G	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	3.090	-0.187152	0.06299	.	.	ENSG00000132434	ENST00000254770	T	0.28454	1.61	5.79	3.62	0.41486	.	1.365060	0.03921	N	0.283546	T	0.13415	0.0325	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.09338	T	0.73	.	4.275	0.10804	0.2868:0.5022:0.128:0.083	.	71	Q9NS86	LANC2_HUMAN	D	71	ENSP00000254770:H71D	ENSP00000254770:H71D	H	+	1	0	LANCL2	55426986	0.000000	0.05858	0.219000	0.23793	0.844000	0.47949	0.155000	0.16362	1.391000	0.46566	0.655000	0.94253	CAT		0.363	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1		NM_018697		12	27	0	0	0	0.013537	0	12	27		
GSAP	54103	broad.mit.edu	37	7	77010667	77010667	+	Silent	SNP	A	A	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:77010667A>G	ENST00000257626.7	-	8	609	c.531T>C	c.(529-531)atT>atC	p.I177I		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	177					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.I177I(1)									GAAATTGTTCAATATCTTTAA	0.289																																						uc003ugf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(529-531)ATT>ATC		pigeon homolog							61.0	58.0	59.0					7																	77010667		1808	4068	5876	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:77010667A>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.531T>C	7.37:g.77010667A>G						PION_uc003ugg.1_5'UTR	p.I177I	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			8	610	-			177					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.531T>C	CCDS34672.2																																																																																				0.289	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		5	24	0	0	0	0.001984	0	5	24		
MET	4233	broad.mit.edu	37	7	116409705	116409705	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:116409705G>A	ENST00000318493.6	+	12	2831	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	MET_ENST00000397752.3_Missense_Mutation_p.D864N			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D882N(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGGAAATGATATTGACCC	0.358			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(2590-2592)GAT>AAT		met proto-oncogene isoform b precursor							85.0	83.0	83.0					7																	116409705		1809	4075	5884	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116409705G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2644G>A	7.37:g.116409705G>A	ENSP00000317272:p.Asp882Asn					MET_uc010lkh.2_Missense_Mutation_p.D882N|MET_uc011knj.1_Missense_Mutation_p.D434N	p.D864N	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		12	2777	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	864			Extracellular (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2590G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887385	0.17540	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097	T;T	0.69175	-0.36;-0.38	5.59	2.55	0.30701	Cell surface receptor IPT/TIG (1);	0.323047	0.36066	N	0.002819	T	0.50292	0.1607	M	0.63428	1.95	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36212	-0.9757	10	0.05620	T	0.96	.	2.0553	0.03579	0.1443:0.2727:0.3616:0.2213	.	882;864	P08581-2;P08581	.;MET_HUMAN	N	864;882;144	ENSP00000380860:D864N;ENSP00000317272:D882N	ENSP00000317272:D882N	D	+	1	0	MET	116196941	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.473000	0.22132	0.797000	0.33971	0.563000	0.77884	GAT		0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				14	42	0	0	0	0.016723	0	14	42		
SGK223	157285	broad.mit.edu	37	8	8185504	8185504	+	Missense_Mutation	SNP	C	C	T	rs370977684		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:8185504C>T	ENST00000520004.1	-	5	3052	c.2788G>A	c.(2788-2790)Ggg>Agg	p.G930R	SGK223_ENST00000330777.4_Missense_Mutation_p.G930R			Q86YV5	SG223_HUMAN		932							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G930R(1)|p.G932R(1)									TGGGTGCTCCCGGTGGAGGCT	0.677																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2788-2790)GGG>AGG		pragmin		C	ARG/GLY	1,3995		0,1,1997	36.0	40.0	39.0		2788	-6.2	0.0	8		39	0,8336		0,0,4168	no	missense	SGK223	NM_001080826.1	125	0,1,6165	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	930/1403	8185504	1,12331	1998	4168	6166	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185504C>T																												ENST00000520004.1:c.2788G>A	8.37:g.8185504C>T	ENSP00000428054:p.Gly930Arg						p.G930R	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	2788	-			930					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2788G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	7.839	0.721598	0.15372	2.5E-4	0.0	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.61510	0.1;0.1	4.73	-6.22	0.02058	.	1.698310	0.02487	N	0.089072	T	0.42086	0.1187	L	0.43152	1.355	0.09310	N	1	P	0.47604	0.898	B	0.34180	0.177	T	0.55042	-0.8202	10	0.52906	T	0.07	.	8.244	0.31677	0.1102:0.2825:0.0:0.6073	.	930	Q86YV5	SG223_HUMAN	R	930	ENSP00000330930:G930R;ENSP00000428054:G930R	ENSP00000330930:G930R	G	-	1	0	AC068353.1	8222914	0.003000	0.15002	0.001000	0.08648	0.141000	0.21300	-0.028000	0.12350	-1.118000	0.02961	0.563000	0.77884	GGG		0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				14	47	0	0	0	0.003163	0	14	47		
MCM4	4173	broad.mit.edu	37	8	48874100	48874100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:48874100C>G	ENST00000262105.2	+	2	304	c.95C>G	c.(94-96)tCt>tGt	p.S32C	PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.S32C|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000338368.3_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	32					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.S32C(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCCAGGTCATCTCCCTCTCAG	0.577																																						uc003xqk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(94-96)TCT>TGT		minichromosome maintenance complex component 4							77.0	77.0	77.0					8																	48874100		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874100C>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.95C>G	8.37:g.48874100C>G	ENSP00000262105:p.Ser32Cys					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.S32C|MCM4_uc011ldi.1_Missense_Mutation_p.S32C|MCM4_uc010lxw.1_RNA	p.S32C	NM_182746	NP_877423	P33991	MCM4_HUMAN			3	190	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	32					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.95C>G	CCDS6143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.711487|2.711487	0.48517|0.48517	.|.	.|.	ENSG00000104738|ENSG00000104738	ENST00000429229|ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826	.|T;T	.|0.03242	.|4.0;4.0	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.270585	.|0.43110	.|D	.|0.000612	T|T	0.05273|0.05273	0.0140|0.0140	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33448	.|0.291;0.412	.|B;B	.|0.36959	.|0.125;0.237	T|T	0.48990|0.48990	-0.8985|-0.8985	6|10	0.15952|0.66056	T|D	0.53|0.02	-0.0383|-0.0383	19.5116|19.5116	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|32;32	.|B3KMX0;P33991	.|.;MCM4_HUMAN	V|C	5|32	.|ENSP00000430194:S32C;ENSP00000262105:S32C	ENSP00000400689:L5V|ENSP00000262105:S32C	L|S	+|+	1|2	0|0	MCM4|MCM4	49036653|49036653	0.102000|0.102000	0.21896|0.21896	0.008000|0.008000	0.14137|0.14137	0.029000|0.029000	0.11900|0.11900	3.674000|3.674000	0.54598|0.54598	2.615000|2.615000	0.88500|0.88500	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.577	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1		NM_005914		16	37	0	0	0	0.007413	0	16	37		
DCSTAMP	81501	broad.mit.edu	37	8	105361016	105361016	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:105361016G>A	ENST00000297581.2	+	2	285	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R79Q|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	79					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.R79Q(1)									AAGCATGCACGATGTTTTATT	0.522																																						uc003ylx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(235-237)CGA>CAA		dendritic cell-specific transmembrane protein							100.0	92.0	94.0					8																	105361016		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361016G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.236G>A	8.37:g.105361016G>A	ENSP00000297581:p.Arg79Gln						p.R79Q	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	285	+			79					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.236G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887373	0.72410	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.77098	-1.07	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	M	0.66939	2.045	0.40580	D	0.981385	D	0.89917	1.0	D	0.87578	0.998	D	0.86334	0.1700	9	.	.	.	-16.9186	18.3185	0.90229	0.0:0.0:1.0:0.0	.	79	Q9H295	TM7S4_HUMAN	Q	79	ENSP00000297581:R79Q	.	R	+	2	0	TM7SF4	105430192	0.998000	0.40836	0.011000	0.14972	0.169000	0.22640	8.156000	0.89645	2.779000	0.95612	0.655000	0.94253	CGA		0.522	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1		NM_030788		17	65	0	0	0	0.004007	0	17	65		
CNTLN	54875	broad.mit.edu	37	9	17464544	17464544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr9:17464544G>C	ENST00000380647.3	+	21	3538	c.3454G>C	c.(3454-3456)Gac>Cac	p.D1152H	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1152H|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1152H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1152					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D1152H(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTGATAGAGGACTTGAAATT	0.294																																						uc003zmz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(3451-3453)GAC>CAC		centlein isoform 1							85.0	88.0	87.0					9																	17464544		1803	4038	5841	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17464544G>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3454G>C	9.37:g.17464544G>C	ENSP00000370021:p.Asp1152His					CNTLN_uc003zmy.2_Missense_Mutation_p.D1152H|CNTLN_uc010mio.2_Missense_Mutation_p.D831H	p.D1151H	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	21	3477	+			1152			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3451G>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782674	0.31502	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.30182	1.54;1.54;1.79	5.26	3.29	0.37713	.	.	.	.	.	T	0.29882	0.0747	L	0.53249	1.67	0.43242	D	0.995152	P;P;P	0.46142	0.724;0.873;0.617	B;B;B	0.40477	0.189;0.33;0.33	T	0.19484	-1.0304	9	0.56958	D	0.05	.	12.7126	0.57098	0.0:0.125:0.7453:0.1296	.	1152;1152;1152	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	H	1152	ENSP00000370021:D1152H;ENSP00000392798:D1152H;ENSP00000262360:D1152H	ENSP00000262360:D1152H	D	+	1	0	CNTLN	17454544	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.353000	0.66034	1.341000	0.45600	0.585000	0.79938	GAC		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		5	20	0	0	0	0.001168	0	5	20		
CXorf21	80231	broad.mit.edu	37	X	30577604	30577604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:30577604C>T	ENST00000378962.3	-	3	1191	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	290								p.S290N(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATATGGAGACTAGGAGTGCT	0.368																																						uc004dcg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(868-870)AGT>AAT		hypothetical protein LOC80231							75.0	66.0	69.0					X																	30577604		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577604C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.869G>A	X.37:g.30577604C>T	ENSP00000368245:p.Ser290Asn						p.S290N	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	1145	-			290						Missense_Mutation	SNP	ENST00000378962.3	37	c.869G>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	6.679	0.493893	0.12702	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.235741	0.43747	D	0.000535	T	0.31263	0.0791	L	0.34521	1.04	0.29502	N	0.854861	B	0.32350	0.366	B	0.35240	0.198	T	0.22765	-1.0207	9	0.30078	T	0.28	-20.1103	8.64	0.33972	0.0:0.767:0.1496:0.0834	.	290	Q9HAI6	CX021_HUMAN	N	290	.	ENSP00000368245:S290N	S	-	2	0	CXorf21	30487525	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.234000	0.43035	2.351000	0.79841	0.513000	0.50165	AGT		0.368	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1		NM_025159		12	74	0	0	0	0.013537	0	12	74		
FGD1	2245	broad.mit.edu	37	X	54497828	54497828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:54497828G>T	ENST00000375135.3	-	2	1133	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	134	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R134S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGTCTGAGCGAAGCCGCTGG	0.612																																						uc004dtg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(400-402)CGC>AGC		faciogenital dysplasia protein							57.0	58.0	58.0					X																	54497828		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497828G>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.400C>A	X.37:g.54497828G>T	ENSP00000364277:p.Arg134Ser					FGD1_uc011moi.1_5'Flank	p.R134S	NM_004463	NP_004454	P98174	FGD1_HUMAN			2	1134	-			134			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.400C>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104623	0.37145	.	.	ENSG00000102302	ENST00000375135	T	0.67171	-0.25	4.45	4.45	0.53987	.	0.000000	0.48286	D	0.000190	T	0.42086	0.1187	N	0.14661	0.345	0.31218	N	0.697858	P	0.44090	0.826	B	0.32393	0.145	T	0.51980	-0.8636	10	0.31617	T	0.26	-7.7917	11.5109	0.50492	0.0:0.0:0.8198:0.1802	.	134	P98174	FGD1_HUMAN	S	134	ENSP00000364277:R134S	ENSP00000364277:R134S	R	-	1	0	FGD1	54514553	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.766000	0.47629	2.159000	0.67721	0.436000	0.28706	CGC		0.612	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1		NM_004463		17	39	1	0	1.99824e-07	0.00499	2.16758e-07	17	39		
KIAA2022	340533	broad.mit.edu	37	X	73962899	73962899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:73962899G>C	ENST00000055682.6	-	3	2104	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	498					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.S498*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACCCTCTAGTGAGTCAACATC	0.438																																						uc004eby.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1492-1494)TCA>TGA		hypothetical protein LOC340533							69.0	60.0	63.0					X																	73962899		2203	4300	6503	SO:0001587	stop_gained	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962899G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1493C>G	X.37:g.73962899G>C	ENSP00000055682:p.Ser498*						p.S498*	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2110	-			498					A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	ENST00000055682.6	37	c.1493C>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	43	10.125402	0.99342	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	6.03	6.03	0.97812	.	0.119701	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.2184	19.4775	0.94995	0.0:0.0:1.0:0.0	.	.	.	.	X	498	.	ENSP00000055682:S498X	S	-	2	0	KIAA2022	73879624	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.476000	0.97823	2.554000	0.86153	0.600000	0.82982	TCA		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537		11	22	0	0	0	0.008291	0	11	22		
ZNF75D	7626	broad.mit.edu	37	X	134427903	134427903	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:134427903A>T	ENST00000370766.3	-	3	2873	c.164T>A	c.(163-165)tTc>tAc	p.F55Y	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.F55Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F55Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGATAACGGAAGCTCCAGAA	0.478																																						uc004eyp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(163-165)TTC>TAC		zinc finger protein 75							93.0	81.0	85.0					X																	134427903		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427903A>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.164T>A	X.37:g.134427903A>T	ENSP00000359802:p.Phe55Tyr					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.F55Y	p.F55Y	NM_007131	NP_009062	P51815	ZN75D_HUMAN			3	2819	-			55			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.164T>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120835	0.56613	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.07021	3.23;3.23	2.96	2.96	0.34315	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.27765	0.0683	M	0.86268	2.805	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.03587	-1.1022	9	0.54805	T	0.06	.	6.8422	0.23969	1.0:0.0:0.0:0.0	.	55;55	P51815;A6NK62	ZN75D_HUMAN;.	Y	55	ENSP00000359802:F55Y;ENSP00000359800:F55Y	ENSP00000359800:F55Y	F	-	2	0	ZNF75D	134255569	1.000000	0.71417	0.062000	0.19696	0.254000	0.26022	4.385000	0.59613	1.418000	0.47098	0.414000	0.27820	TTC		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1		NM_007131		34	82	0	0	0	0.010818	0	34	82		
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(16-18)CCCfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	p.P6fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	273_274	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		5	9	NaN	NaN	NaN	NaN	NaN	5	9	---	---
TP63	8626	broad.mit.edu	37	3	189526295	189526303	+	In_Frame_Del	DEL	GCCAAGTCG	GCCAAGTCG	-	rs373262255		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:189526295_189526303delGCCAAGTCG	ENST00000264731.3	+	4	648_656	c.559_567delGCCAAGTCG	c.(559-567)gccaagtcgdel	p.AKS187del	TP63_ENST00000456148.1_In_Frame_Del_p.AKS93del|TP63_ENST00000392463.2_In_Frame_Del_p.AKS93del|TP63_ENST00000437221.1_In_Frame_Del_p.AKS93del|TP63_ENST00000440651.2_In_Frame_Del_p.AKS187del|TP63_ENST00000392461.3_In_Frame_Del_p.AKS93del|TP63_ENST00000449992.1_Intron|TP63_ENST00000392460.3_In_Frame_Del_p.AKS187del|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_In_Frame_Del_p.AKS187del|TP63_ENST00000354600.5_In_Frame_Del_p.AKS93del|TP63_ENST00000320472.5_In_Frame_Del_p.AKS187del	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	187			A -> P (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:9662378}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTCGAGCACCGCCAAGTCGGCCACCTGGA	0.622										HNSCC(45;0.13)																												uc003fry.2		NaN																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(559-567)GCCAAGTCGdel		tumor protein p63 isoform 1																																				SO:0001651	inframe_deletion	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526295_189526303delGCCAAGTCG	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.559_567delGCCAAGTCG	3.37:g.189526295_189526303delGCCAAGTCG	ENSP00000264731:p.Ala187_Ser189del	HNSCC(45;0.13)				TP63_uc003frx.2_In_Frame_Del_p.AKS187del|TP63_uc003frz.2_In_Frame_Del_p.AKS187del|TP63_uc010hzc.1_In_Frame_Del_p.AKS187del|TP63_uc003fsa.2_In_Frame_Del_p.AKS93del|TP63_uc003fsb.2_In_Frame_Del_p.AKS93del|TP63_uc003fsc.2_In_Frame_Del_p.AKS93del|TP63_uc003fsd.2_In_Frame_Del_p.AKS93del|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_In_Frame_Del_p.AKS68del	p.AKS187del	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	648_656	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		187_189					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	In_Frame_Del	DEL	ENST00000264731.3	37	c.559_567delGCCAAGTCG	CCDS3293.1																																																																																				0.622	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722		9	45	NaN	NaN	NaN	NaN	NaN	9	45	---	---
