#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VWA8	23078	broad.mit.edu	37	13	42273390	42273390	+	Silent	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr13:42273390A>C	ENST00000379310.3	-	29	3449	c.3381T>G	c.(3379-3381)acT>acG	p.T1127T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1127						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTACATAGAGAGTATTTTGCT	0.378																																						ENST00000379310.3																			0											c.(3379-3381)acT>acG		von Willebrand factor A domain containing 8							78.0	76.0	77.0					13																	42273390		1841	4089	5930	SO:0001819	synonymous_variant	23078							g.chr13:42273390A>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3381T>G	13.37:g.42273390A>C							p.T1127T	NM_015058.1	NP_055873.1					29	3449	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.3381T>G	CCDS41881.1																																																																																				0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		29	35	0	0	0	1	0	29	35				
NBPF8	728841	broad.mit.edu	37	1	144220806	144220806	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:144220806G>T	ENST00000369373.5	+	2	73	c.73G>T	c.(73-75)Gat>Tat	p.D25Y				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GGAGCTGCTGGATGAGAAAGA	0.483																																						ENST00000369373.5																			0											c.(73-75)Gat>Tat		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220806G>T	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.73G>T	1.37:g.144220806G>T	ENSP00000358380:p.Asp25Tyr						p.D25Y							2	73	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.73G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.207|7.207	0.594667|0.594667	0.13875|0.13875	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07688|.	3.17|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	D;.;D;D|.	0.69078|.	0.987;.;0.997;0.991|.	D;.;D;D|.	0.73380|.	0.961;.;0.98;0.941|.	T|.	0.29610|.	-1.0006|.	4|.	0.87932|.	D|.	0|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	Y|C	25|3575	ENSP00000358380:D25Y|.	ENSP00000358380:D25Y|.	D|W	+|+	1|3	0|0	RP3-377D14.1|RP3-377D14.1	142932163|142932163	0.555000|0.555000	0.26530|0.26530	.|.	.|.	.|.	.|.	-0.730000|-0.730000	0.04915|0.04915	.|.	.|.	.|.	.|.	GAT|TGG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				20	170	1	0	3.6726e-16	1	4.03986e-16	20	170				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	90	0	0	0	1	0	4	90				
FEZF1	389549	broad.mit.edu	37	7	121943355	121943355	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:121943355G>A	ENST00000442488.2	-	2	879	c.812C>T	c.(811-813)gCg>gTg	p.A271V	FEZF1_ENST00000331178.4_Missense_Mutation_p.A267V|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.A221V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	271					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTATAGTGCGCATTAAAGAC	0.473																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(811-813)gCg>gTg		FEZ family zinc finger 1							88.0	84.0	86.0					7																	121943355		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943355G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.812C>T	7.37:g.121943355G>A	ENSP00000411145:p.Ala271Val					FEZF1_ENST00000331178.4_Missense_Mutation_p.A267V|FEZF1_ENST00000427185.2_Missense_Mutation_p.A221V	p.A271V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			2	879	-			271					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.812C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425151	0.83667	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.14766	3.23;2.48;3.23	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.01004	-1.1484	10	0.23891	T	0.37	-16.9756	19.1959	0.93689	0.0:0.0:1.0:0.0	.	271;221	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	271;267;221	ENSP00000411145:A271V;ENSP00000332777:A267V;ENSP00000392727:A221V	ENSP00000332777:A267V	A	-	2	0	FEZF1	121730591	1.000000	0.71417	0.983000	0.44433	0.959000	0.62525	7.887000	0.87295	2.598000	0.87819	0.644000	0.83932	GCG		0.473	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	95	0	0	0	1	0	4	95				
ABHD14A	25864	broad.mit.edu	37	3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:52014456C>T	ENST00000273596.3	+	4	513	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	ABHD14A_ENST00000491470.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637																																						ENST00000273596.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6						c.(445-447)Cgg>Tgg		abhydrolase domain containing 14A							40.0	46.0	44.0					3																	52014456		2203	4300	6503	SO:0001583	missense	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014456C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.445C>T	3.37:g.52014456C>T	ENSP00000273596:p.Arg149Trp					ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Intron	p.R149W	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	513	+			149					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.445C>T	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773789	0.49786	.	.	ENSG00000248487	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000538216	T;T;T	0.37584	1.28;1.19;1.89	5.69	3.88	0.44766	.	.	.	.	.	T	0.55289	0.1911	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.54892	-0.8225	9	0.48119	T	0.1	.	13.216	0.59861	0.2904:0.7096:0.0:0.0	.	149	Q9BUJ0	ABHEA_HUMAN	W	214;144;149;107	ENSP00000418242:R214W;ENSP00000420475:R144W;ENSP00000273596:R149W	ENSP00000273596:R149W	R	+	1	2	ABHD14A	51989496	0.990000	0.36364	0.994000	0.49952	0.623000	0.37688	2.192000	0.42649	0.732000	0.32470	0.563000	0.77884	CGG		0.637	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		16	4	0	0	0	1	0	16	4				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	98	1	0	0.014758	1	0.0151012	4	98				
FAP	2191	broad.mit.edu	37	2	163070543	163070543	+	Missense_Mutation	SNP	G	G	C	rs143208145		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:163070543G>C	ENST00000188790.4	-	11	1114	c.907C>G	c.(907-909)Cga>Gga	p.R303G	FAP_ENST00000443424.1_Missense_Mutation_p.R278G	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAACATACTCGTTCATCAGTA	0.403																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(907-909)Cga>Gga		fibroblast activation protein, alpha							101.0	98.0	99.0					2																	163070543		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070543G>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.907C>G	2.37:g.163070543G>C	ENSP00000188790:p.Arg303Gly					FAP_ENST00000443424.1_Missense_Mutation_p.R278G	p.R303G	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			11	1114	-			303						Missense_Mutation	SNP	ENST00000188790.4	37	c.907C>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706255	0.68615	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96232	-3.95;1.4	5.53	2.58	0.30949	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.135690	0.49916	D	0.000137	D	0.97583	0.9208	M	0.81497	2.545	0.58432	D	0.999997	P;D;D	0.71674	0.806;0.998;0.998	P;D;D	0.63703	0.616;0.917;0.917	D	0.97101	0.9797	10	0.66056	D	0.02	-19.9316	14.3053	0.66380	0.0:0.0:0.6111:0.3889	.	278;303;303	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	G	303;278	ENSP00000188790:R303G;ENSP00000411391:R278G	ENSP00000188790:R303G	R	-	1	2	FAP	162778789	1.000000	0.71417	0.649000	0.29536	0.955000	0.61496	4.856000	0.62932	0.222000	0.20900	0.655000	0.94253	CGA		0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			16	71	0	0	0	1	0	16	71				
OR10J5	127385	broad.mit.edu	37	1	159505586	159505586	+	Missense_Mutation	SNP	G	G	A	rs143883325	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:159505586G>A	ENST00000334857.2	-	1	256	c.212C>T	c.(211-213)aCg>aTg	p.T71M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGTGTACACCGTCTCTGAACT	0.433													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		22856	0.001		0.0	False		,,,				2504	0.0					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(211-213)aCg>aTg		olfactory receptor, family 10, subfamily J, member 5		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	169.0	136.0	147.0		212	-0.1	0.0	1	dbSNP_134	147	3,8597	3.7+/-12.6	0,3,4297	yes	missense	OR10J5	NM_001004469.1	81	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging	71/310	159505586	5,13001	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505586G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.212C>T	1.37:g.159505586G>A	ENSP00000334441:p.Thr71Met						p.T71M	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	256	-	all_hematologic(112;0.0429)		71					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.212C>T	CCDS30910.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	5.325	0.245370	0.10077	4.54E-4	3.49E-4	ENSG00000184155	ENST00000334857	T	0.02890	4.12	4.11	-0.0644	0.13772	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02304	0.0071	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.45366	-0.9266	9	0.36615	T	0.2	.	5.8296	0.18572	0.346:0.1365:0.5175:0.0	.	71	Q8NHC4	O10J5_HUMAN	M	71	ENSP00000334441:T71M	ENSP00000334441:T71M	T	-	2	0	OR10J5	157772210	0.008000	0.16893	0.002000	0.10522	0.022000	0.10575	2.204000	0.42761	-0.342000	0.08363	-2.687000	0.00140	ACG		0.433	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		49	48	0	0	0	1	0	49	48				
PLLP	51090	broad.mit.edu	37	16	57290877	57290877	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:57290877C>T	ENST00000219207.5	-	4	643	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	PLLP_ENST00000569059.1_Missense_Mutation_p.R108Q	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	166	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						GCCTACTCCTCGCCAGGCCTG	0.597																																						ENST00000219207.5																			0				endometrium(1)|prostate(1)	2						c.(496-498)cGa>cAa		plasmolipin							93.0	79.0	84.0					16																	57290877		2198	4300	6498	SO:0001583	missense	51090					integral to membrane	ion channel activity	g.chr16:57290877C>T	AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"""plasma membrane proteolipid"""	600340	"""transmembrane 4 superfamily member 11 (plasmolipin)"", ""plasma membrane proteolipid (plasmolipin)"""	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.497G>A	16.37:g.57290877C>T	ENSP00000219207:p.Arg166Gln					PLLP_ENST00000569059.1_Missense_Mutation_p.R108Q	p.R166Q	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN			4	643	-			166			MARVEL.		B2R9T6	Missense_Mutation	SNP	ENST00000219207.5	37	c.497G>A	CCDS10777.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995507	0.93167	.	.	ENSG00000102934	ENST00000219207	T	0.55588	0.51	5.65	4.49	0.54785	Marvel (1);	0.152498	0.39834	N	0.001248	T	0.42154	0.1190	L	0.53561	1.675	0.46874	D	0.99923	P	0.48640	0.913	B	0.37888	0.26	T	0.44019	-0.9355	10	0.54805	T	0.06	-27.7063	7.8219	0.29292	0.0:0.8216:0.0:0.1784	.	166	Q9Y342	PLLP_HUMAN	Q	166	ENSP00000219207:R166Q	ENSP00000219207:R166Q	R	-	2	0	PLLP	55848378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.499000	0.35671	2.824000	0.97209	0.655000	0.94253	CGA		0.597	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257341.2			5	60	0	0	0	1	0	5	60				
UCK2	7371	broad.mit.edu	37	1	165872475	165872475	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:165872475A>C	ENST00000367879.4	+	5	859	c.556A>C	c.(556-558)Att>Ctt	p.I186L	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L|UCK2_ENST00000462329.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	186					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATCTCAGTACATTACGTTCGT	0.388																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(556-558)Att>Ctt		uridine-cytidine kinase 2							255.0	219.0	231.0					1																	165872475		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872475A>C	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.556A>C	1.37:g.165872475A>C	ENSP00000356853:p.Ile186Leu					UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_3'UTR	p.I186L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	859	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		186					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.556A>C	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173058	0.57584	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	4.83	0.62350	Phosphoribulokinase/uridine kinase (1);	0.047721	0.85682	D	0.000000	T	0.04679	0.0127	N	0.00387	-1.565	0.50632	D	0.999884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22312	-1.0220	8	0.14656	T	0.56	-10.3876	12.4166	0.55496	1.0:0.0:0.0:0.0	.	36;186	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	L	186	.	ENSP00000356853:I186L	I	+	1	0	UCK2	164139099	1.000000	0.71417	0.962000	0.40283	0.895000	0.52256	8.839000	0.92120	2.032000	0.59987	0.533000	0.62120	ATT		0.388	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		6	172	0	0	0	1	0	6	172				
PDK4	5166	broad.mit.edu	37	7	95222106	95222106	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:95222106G>C	ENST00000005178.5	-	4	692	c.495C>G	c.(493-495)aaC>aaG	p.N165K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	165	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAAATACGGTTCATGTAAA	0.373																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(493-495)aaC>aaG		pyruvate dehydrogenase kinase, isozyme 4							136.0	131.0	133.0					7																	95222106		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222106G>C	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.495C>G	7.37:g.95222106G>C	ENSP00000005178:p.Asn165Lys						p.N165K	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	692	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		165			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.495C>G	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501492	0.85176	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.30182	1.54	5.75	3.96	0.45880	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.037176	0.85682	D	0.000000	T	0.45875	0.1364	L	0.43152	1.355	0.58432	D	0.999998	D	0.62365	0.991	D	0.74348	0.983	T	0.41840	-0.9486	10	0.87932	D	0	.	12.5738	0.56352	0.1341:0.0:0.8659:0.0	.	165	Q16654	PDK4_HUMAN	K	165;129	ENSP00000005178:N165K	ENSP00000005178:N165K	N	-	3	2	PDK4	95060042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	0.914000	0.36822	0.655000	0.94253	AAC		0.373	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		4	64	0	0	0	1	0	4	64				
SLC12A8	84561	broad.mit.edu	37	3	124854566	124854566	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:124854566C>T	ENST00000393469.4	-	5	732	c.683G>A	c.(682-684)aGc>aAc	p.S228N	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S228N|SLC12A8_ENST00000423114.2_Missense_Mutation_p.S257N|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	228					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TTCCCCCGGGCTGTAATCGGG	0.443																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(769-771)aGc>aAc		solute carrier family 12, member 8							69.0	71.0	70.0					3																	124854566		1901	4120	6021	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124854566C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.683G>A	3.37:g.124854566C>T	ENSP00000377112:p.Ser228Asn					SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S228N|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S228N	p.S257N			A0AV02	S12A8_HUMAN			6	769	-			228					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.770G>A	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	c	17.50	3.405203	0.62288	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.14	4.25	0.50352	Amino acid permease domain (1);	.	.	.	.	D	0.98049	0.9357	L	0.58510	1.815	0.80722	D	1	P;B;P	0.50066	0.931;0.397;0.656	P;B;B	0.54965	0.765;0.274;0.243	D	0.97166	0.9841	9	0.19590	T	0.45	.	12.6109	0.56549	0.0:0.8154:0.1846:0.0	.	120;257;228	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	N	228;257;228;110	ENSP00000377112:S228N;ENSP00000404243:S257N;ENSP00000418783:S228N;ENSP00000420197:S110N	ENSP00000377112:S228N	S	-	2	0	SLC12A8	126337256	0.994000	0.37717	1.000000	0.80357	0.913000	0.54294	1.143000	0.31553	1.356000	0.45884	0.550000	0.68814	AGC		0.443	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		5	32	0	0	0	1	0	5	32				
EPB42	2038	broad.mit.edu	37	15	43498578	43498578	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr15:43498578G>A	ENST00000441366.2	-	10	1793	c.1568C>T	c.(1567-1569)gCt>gTt	p.A523V	EPB42_ENST00000540029.1_Missense_Mutation_p.A445V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000300215.3_Missense_Mutation_p.A553V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	523					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GAGCTTGGCAGCAAGGACACC	0.572																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1657-1659)gCt>gTt		erythrocyte membrane protein band 4.2							143.0	112.0	123.0					15																	43498578		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43498578G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1568C>T	15.37:g.43498578G>A	ENSP00000396616:p.Ala523Val					EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Missense_Mutation_p.A523V|EPB42_ENST00000540029.1_Missense_Mutation_p.A445V	p.A553V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	10	2115	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	523					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1658C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877903	0.51801	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.68903	-0.36;-0.36;-0.36	5.08	4.17	0.49024	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.696678	0.15188	N	0.275739	T	0.57475	0.2056	M	0.61703	1.905	0.09310	N	0.999999	P;B;B;B	0.40180	0.705;0.082;0.134;0.163	B;B;B;B	0.34242	0.178;0.049;0.041;0.068	T	0.46665	-0.9175	10	0.19147	T	0.46	-2.342	9.6341	0.39798	0.0948:0.0:0.9052:0.0	.	445;523;553;523	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	553;445;523;451	ENSP00000300215:A553V;ENSP00000444699:A445V;ENSP00000396616:A523V	ENSP00000300215:A553V	A	-	2	0	EPB42	41285870	0.075000	0.21258	0.773000	0.31616	0.887000	0.51463	1.236000	0.32683	1.381000	0.46364	0.561000	0.74099	GCT		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		4	121	0	0	0	1	0	4	121				
ZNF846	162993	broad.mit.edu	37	19	9868382	9868382	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868382T>A	ENST00000397902.2	-	6	1784	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAGCAAATGCTTTACCGCATT	0.438																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1369-1371)aaA>aaT		zinc finger protein 846							94.0	105.0	101.0					19																	9868382		2153	4278	6431	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868382T>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1371A>T	19.37:g.9868382T>A	ENSP00000380999:p.Lys457Asn					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	p.K457N	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1784	-			457					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1371A>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611741	0.46631	.	.	ENSG00000196605	ENST00000397902	T	0.07908	3.15	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26666	0.0652	M	0.86651	2.83	0.18873	N	0.999982	D	0.65815	0.995	P	0.61592	0.891	T	0.03287	-1.1052	8	.	.	.	.	8.067	0.30667	0.0:0.0:0.0:1.0	.	457	Q147U1	ZN846_HUMAN	N	457	ENSP00000380999:K457N	.	K	-	3	2	ZNF846	9729382	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-1.326000	0.02685	1.205000	0.43262	0.454000	0.30748	AAA		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		6	87	0	0	0	1	0	6	87				
ANAPC2	29882	broad.mit.edu	37	9	140074781	140074781	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr9:140074781C>T	ENST00000323927.2	-	10	1746	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	581					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCTGCTGGCCGCTTCTCATC	0.667																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1741-1743)cGg>cAg		anaphase promoting complex subunit 2							57.0	55.0	56.0					9																	140074781		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074781C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1742G>A	9.37:g.140074781C>T	ENSP00000314004:p.Arg581Gln						p.R581Q	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1746	-	all_cancers(76;0.0926)		581					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1742G>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008848	0.35415	.	.	ENSG00000176248	ENST00000323927	T	0.72835	-0.69	4.79	2.64	0.31445	Cullin, N-terminal (1);Cullin homology (3);	0.076641	0.52532	D	0.000069	T	0.40862	0.1134	N	0.03608	-0.345	0.29636	N	0.845089	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27606	-1.0069	10	0.13853	T	0.58	-28.7334	8.083	0.30756	0.26:0.604:0.136:0.0	.	581;578	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	Q	581	ENSP00000314004:R581Q	ENSP00000314004:R581Q	R	-	2	0	ANAPC2	139194602	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	3.105000	0.50314	0.980000	0.38523	0.462000	0.41574	CGG		0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		7	73	0	0	0	1	0	7	73				
RHOT2	89941	broad.mit.edu	37	16	721165	721165	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:721165C>A	ENST00000315082.4	+	11	945	c.831C>A	c.(829-831)agC>agA	p.S277R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	277					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCGGCTACAGCGATGCCCTGG	0.632																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(829-831)agC>agA		ras homolog family member T2							79.0	75.0	76.0					16																	721165		2200	4300	6500	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721165C>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.831C>A	16.37:g.721165C>A	ENSP00000321971:p.Ser277Arg						p.S277R	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			11	945	+		Hepatocellular(780;0.0218)	277					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.831C>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768533	0.49680	.	.	ENSG00000140983	ENST00000315082	T	0.43294	0.95	5.05	-10.1	0.00402	EF hand associated, type-2 (1);	0.186262	0.56097	D	0.000035	T	0.27933	0.0688	L	0.38175	1.15	0.23483	N	0.997582	P	0.50943	0.94	P	0.48654	0.585	T	0.63305	-0.6667	10	0.66056	D	0.02	2.4852	5.5057	0.16852	0.1449:0.4517:0.3027:0.1006	.	277	Q8IXI1	MIRO2_HUMAN	R	277	ENSP00000321971:S277R	ENSP00000321971:S277R	S	+	3	2	RHOT2	661166	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.883000	0.00714	-4.509000	0.00045	-1.069000	0.02264	AGC		0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		3	68	1	0	0.115264	1	0.115264	3	68				
IRX3	79191	broad.mit.edu	37	16	54319405	54319405	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:54319405G>A	ENST00000329734.3	-	2	1100	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	130					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTCTTGGGACGGGACGGGTCC	0.677																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(388-390)Cgt>Tgt		iroquois homeobox 3							94.0	75.0	81.0					16																	54319405		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319405G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.388C>T	16.37:g.54319405G>A	ENSP00000331608:p.Arg130Cys						p.R130C	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1100	-			130					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.388C>T	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409750	0.42715	.	.	ENSG00000177508	ENST00000329734	T	0.65916	-0.18	3.84	1.82	0.25136	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73338	-0.4014	10	0.72032	D	0.01	-2.0244	4.7363	0.12989	0.1063:0.0:0.5138:0.3799	.	130	P78415	IRX3_HUMAN	C	130	ENSP00000331608:R130C	ENSP00000331608:R130C	R	-	1	0	IRX3	52876906	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	2.841000	0.48223	0.383000	0.24910	-0.251000	0.11542	CGT		0.677	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			3	28	0	0	0	1	0	3	28				
SCN5A	6331	broad.mit.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	rs199473605		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4018-4020)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						112.0	106.0	108.0					3																	38601865		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601865C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile					SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I	p.V1340I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4211	-	Medulloblastoma(35;0.163)		1340					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4018G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		16	21	0	0	0	1	0	16	21				
LRP1B	53353	broad.mit.edu	37	2	141945999	141945999	+	Missense_Mutation	SNP	G	G	C	rs572771636		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:141945999G>C	ENST00000389484.3	-	7	1975	c.1004C>G	c.(1003-1005)cCa>cGa	p.P335R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	335					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGCTATTGGATCTACTGC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1003-1005)cCa>cGa		low density lipoprotein receptor-related protein 1B							79.0	76.0	77.0					2																	141945999		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141945999G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1004C>G	2.37:g.141945999G>C	ENSP00000374135:p.Pro335Arg	TSP Lung(27;0.18)					p.P335R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1975	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	335					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1004C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560313	0.86335	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95518	-3.73	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.98473	0.9491	H	0.96015	3.755	0.58432	D	0.999999	D	0.69078	0.997	D	0.65874	0.939	D	0.99741	1.1015	10	0.87932	D	0	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	335	Q9NZR2	LRP1B_HUMAN	R	335;273	ENSP00000374135:P335R	ENSP00000374135:P335R	P	-	2	0	LRP1B	141662469	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.749000	0.98871	2.406000	0.81754	0.655000	0.94253	CCA		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	47	0	0	0	1	0	17	47				
HMCN1	83872	broad.mit.edu	37	1	185880806	185880806	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:185880806G>A	ENST00000271588.4	+	6	1023	c.794G>A	c.(793-795)gGg>gAg	p.G265E	HMCN1_ENST00000367492.2_Splice_Site_p.G265E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	265					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTTTCAGGGAAGCTGATA	0.373																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e6-1		hemicentin 1							213.0	225.0	221.0					1																	185880806		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185880806G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.794-1G>A	1.37:g.185880806G>A						HMCN1_ENST00000367492.2_Splice_Site_p.G265_splice	p.G265_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			6	1023	+			265					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.793_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771416	0.90108	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73152	-0.71;-0.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83578	0.0116	9	.	.	.	.	20.0429	0.97598	0.0:0.0:1.0:0.0	.	265	Q96RW7	HMCN1_HUMAN	E	265	ENSP00000271588:G265E;ENSP00000356462:G265E	.	G	+	2	0	HMCN1	184147429	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.828000	0.92047	2.812000	0.96745	0.555000	0.69702	GGG		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	42	64	0	0	0	1	0	42	64				
MIA3	375056	broad.mit.edu	37	1	222833531	222833531	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:222833531A>G	ENST00000344922.5	+	24	5013	c.4988A>G	c.(4987-4989)cAg>cGg	p.Q1663R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1663	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTGAGCCAGAATGGCTCT	0.468																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4987-4989)cAg>cGg		melanoma inhibitory activity family, member 3							90.0	92.0	91.0					1																	222833531		1896	4116	6012	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833531A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4988A>G	1.37:g.222833531A>G	ENSP00000340900:p.Gln1663Arg					MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R	p.Q1663R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	24	5013	+			1663			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4988A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337663	0.24253	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.28895	1.59;1.59;1.59	6.08	4.96	0.65561	.	.	.	.	.	T	0.20170	0.0485	L	0.39397	1.21	0.27798	N	0.942598	B;B	0.26120	0.067;0.142	B;B	0.25140	0.058;0.047	T	0.23476	-1.0187	9	0.12766	T	0.61	.	3.4956	0.07654	0.6952:0.0:0.3048:0.0	.	541;1663	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1663;1663;1604;541;541	ENSP00000340900:Q1663R;ENSP00000340587:Q1663R;ENSP00000345866:Q541R	ENSP00000284471:Q541R	Q	+	2	0	MIA3	220900154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.741000	0.47426	2.330000	0.79161	0.533000	0.62120	CAG		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		25	25	0	0	0	1	0	25	25				
SYNE1	23345	broad.mit.edu	37	6	152754966	152754966	+	Silent	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr6:152754966C>T	ENST00000367255.5	-	34	5026	c.4425G>A	c.(4423-4425)tcG>tcA	p.S1475S	SYNE1_ENST00000448038.1_Silent_p.S1482S|SYNE1_ENST00000341594.5_Silent_p.S1545S|SYNE1_ENST00000265368.4_Silent_p.S1475S|SYNE1_ENST00000423061.1_Silent_p.S1482S|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000367253.4_Silent_p.S1475S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1475					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGCAGATGACGAAGTTTCCA	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4423-4425)tcG>tcA		spectrin repeat containing, nuclear envelope 1							165.0	153.0	157.0					6																	152754966		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152754966C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4425G>A	6.37:g.152754966C>T		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.S1475S|SYNE1_ENST00000341594.5_Silent_p.S1545S|SYNE1_ENST00000448038.1_Silent_p.S1482S|SYNE1_ENST00000367253.4_Silent_p.S1475S|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000423061.1_Silent_p.S1482S	p.S1475S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	34	5026	-		Ovarian(120;0.0955)	1475					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4425G>A	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	114	0	0	0	1	0	7	114				
ZNF846	162993	broad.mit.edu	37	19	9868402	9868402	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868402C>G	ENST00000397902.2	-	6	1764	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCTTACATTCACAGGCCTTT	0.433																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1351-1353)Gaa>Caa		zinc finger protein 846							84.0	96.0	92.0					19																	9868402		2146	4282	6428	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868402C>G	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1351G>C	19.37:g.9868402C>G	ENSP00000380999:p.Glu451Gln					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	p.E451Q	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1764	-			451					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1351G>C	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568941	0.28003	.	.	ENSG00000196605	ENST00000397902	T	0.07444	3.19	2.04	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04137	0.0115	N	0.11756	0.17	0.09310	N	1	P	0.39282	0.666	B	0.38194	0.267	T	0.43212	-0.9405	8	.	.	.	.	6.1254	0.20176	0.0:0.3772:0.0:0.6228	.	451	Q147U1	ZN846_HUMAN	Q	451	ENSP00000380999:E451Q	.	E	-	1	0	ZNF846	9729402	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.299000	0.00133	-0.268000	0.09312	-0.266000	0.10368	GAA		0.433	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		7	92	0	0	0	1	0	7	92				
CCDC60	160777	broad.mit.edu	37	12	119968725	119968725	+	Missense_Mutation	SNP	C	C	T	rs372064797		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:119968725C>T	ENST00000327554.2	+	13	1873	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	470										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAGAACTTCCGCCCCGCCAA	0.493																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1408-1410)Cgc>Tgc		coiled-coil domain containing 60		C	CYS/ARG	0,4406		0,0,2203	91.0	89.0	90.0		1408	5.8	1.0	12		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	470/551	119968725	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119968725C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1408C>T	12.37:g.119968725C>T	ENSP00000333374:p.Arg470Cys					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R470C	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	13	1873	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		470						Missense_Mutation	SNP	ENST00000327554.2	37	c.1408C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885786	0.72410	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.25414	1.8	5.82	5.82	0.92795	.	0.383807	0.25164	N	0.032648	T	0.46814	0.1412	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.14980	-1.0453	9	.	.	.	-13.2127	17.0004	0.86380	0.0:1.0:0.0:0.0	.	470	Q8IWA6	CCD60_HUMAN	C	470	ENSP00000333374:R470C	.	R	+	1	0	CCDC60	118453108	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	1.831000	0.39141	2.751000	0.94390	0.655000	0.94253	CGC		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		4	78	0	0	0	1	0	4	78				
XKR9	389668	broad.mit.edu	37	8	71646088	71646088	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr8:71646088T>C	ENST00000408926.3	+	5	1085	c.551T>C	c.(550-552)gTa>gCa	p.V184A	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V184A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	184						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTATCAAGTAGCTTTAAGA	0.313																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(550-552)gTa>gCa		XK, Kell blood group complex subunit-related family, member 9							81.0	76.0	78.0					8																	71646088		2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646088T>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.551T>C	8.37:g.71646088T>C	ENSP00000386141:p.Val184Ala					XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	p.V184A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1085	+	Breast(64;0.0716)		184					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.551T>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446188	0.43429	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.62639	0.01;0.01	4.69	4.69	0.59074	.	0.418104	0.26808	N	0.022383	T	0.49558	0.1564	L	0.36672	1.1	0.24235	N	0.995382	B	0.30563	0.285	B	0.28916	0.096	T	0.31943	-0.9925	10	0.11794	T	0.64	-6.6104	14.6127	0.68526	0.0:0.0:0.0:1.0	.	184	Q5GH70	XKR9_HUMAN	A	184	ENSP00000386141:V184A;ENSP00000431088:V184A	ENSP00000386141:V184A	V	+	2	0	XKR9	71808642	0.952000	0.32445	1.000000	0.80357	0.889000	0.51656	2.763000	0.47605	2.100000	0.63781	0.460000	0.39030	GTA		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		16	67	0	0	0	1	0	16	67				
IWS1	55677	broad.mit.edu	37	2	128263212	128263212	+	Silent	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:128263212C>T	ENST00000295321.4	-	3	526	c.267G>A	c.(265-267)agG>agA	p.R89R	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Silent_p.R96R|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	89	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGTCCTTTTGCCTGTGAAGCT	0.493																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(265-267)agG>agA		IWS1 homolog (S. cerevisiae)							165.0	165.0	165.0					2																	128263212		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128263212C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.267G>A	2.37:g.128263212C>T						IWS1_ENST00000455721.2_Silent_p.R96R|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	p.R89R	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	526	-	Colorectal(110;0.1)		89			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.267G>A	CCDS2146.1																																																																																				0.493	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		4	272	0	0	0	1	0	4	272				
LRRC43	254050	broad.mit.edu	37	12	122685876	122685876	+	Splice_Site	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:122685876G>C	ENST00000339777.4	+	11	1871	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	615										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCCAAAAAAGGTGAGTGCCG	0.522																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.e11+1		leucine rich repeat containing 43							139.0	145.0	143.0					12																	122685876		1914	4132	6046	SO:0001630	splice_region_variant	254050							g.chr12:122685876G>C	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1843+1G>C	12.37:g.122685876G>C						LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Splice_Site_p.E430_splice	p.E615_splice	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1871	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		615					Q6ZVT9	Splice_Site	SNP	ENST00000339777.4	37	c.1843_splice	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567824	0.45798	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.92	3.66	3.66	0.41972	.	0.605551	0.15655	N	0.251194	T	0.49609	0.1567	L	0.40543	1.245	0.27777	N	0.943276	P	0.34684	0.463	B	0.43658	0.426	T	0.42241	-0.9463	10	0.25106	T	0.35	-0.9642	11.5993	0.50993	0.0:0.0:1.0:0.0	.	615	Q8N309	LRC43_HUMAN	Q	615;486;430	ENSP00000344233:E615Q;ENSP00000416628:E430Q	ENSP00000289014:E486Q	E	+	1	0	LRRC43	121251829	1.000000	0.71417	0.686000	0.30086	0.172000	0.22775	3.812000	0.55628	1.989000	0.58080	0.561000	0.74099	GAA		0.522	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	Missense_Mutation	24	39	0	0	0	1	0	24	39				
BMP3	651	broad.mit.edu	37	4	81967606	81967606	+	Missense_Mutation	SNP	G	G	A	rs200995746		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr4:81967606G>A	ENST00000282701.2	+	2	1351	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	344					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCCTCATCGGAAGAGCCAG	0.493																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1030-1032)cGg>cAg		bone morphogenetic protein 3		A	GLN/ARG	1,4405	825.4+/-416.5	0,1,2202	48.0	48.0	48.0		1031	4.0	0.4	4		48	1,8599	818.4+/-406.9	0,1,4299	yes	missense	BMP3	NM_001201.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	344/473	81967606	2,13004	2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967606G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1031G>A	4.37:g.81967606G>A	ENSP00000282701:p.Arg344Gln						p.R344Q	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1351	+			344					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.1031G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	1.010	-0.688174	0.03328	2.27E-4	1.16E-4	ENSG00000152785	ENST00000282701	T	0.73258	-0.73	5.16	3.95	0.45737	.	0.211174	0.50627	N	0.000103	T	0.24509	0.0594	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.07644	T	0.81	.	7.1354	0.25525	0.7965:0.0:0.0726:0.1308	.	344	P12645	BMP3_HUMAN	Q	344	ENSP00000282701:R344Q	ENSP00000282701:R344Q	R	+	2	0	BMP3	82186630	1.000000	0.71417	0.436000	0.26797	0.024000	0.10985	2.725000	0.47294	0.350000	0.24002	-0.254000	0.11334	CGG		0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			26	21	0	0	0	1	0	26	21				
COL20A1	57642	broad.mit.edu	37	20	61929342	61929342	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr20:61929342G>A	ENST00000358894.6	+	3	263	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	COL20A1_ENST00000422202.1_Missense_Mutation_p.G55S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G55S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G55S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGCGGCCTCGGCTACCTGGT	0.642																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(163-165)Ggc>Agc		collagen, type XX, alpha 1							37.0	48.0	44.0					20																	61929342		2013	4156	6169	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61929342G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.163G>A	20.37:g.61929342G>A	ENSP00000351767:p.Gly55Ser					COL20A1_ENST00000358894.6_Missense_Mutation_p.G55S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G55S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G55S	p.G55S			Q9P218	COKA1_HUMAN			2	231	+	all_cancers(38;1.39e-10)		55			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.163G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217326	0.58560	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	3.95	3.95	0.45737	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.66509	0.2796	L	0.34521	1.04	0.45227	D	0.998235	D	0.89917	1.0	D	0.97110	1.0	T	0.71464	-0.4585	10	0.72032	D	0.01	.	15.63	0.76899	0.0:0.0:1.0:0.0	.	55	Q9P218	COKA1_HUMAN	S	55	ENSP00000351767:G55S;ENSP00000323077:G55S;ENSP00000408690:G55S;ENSP00000414753:G55S	ENSP00000323077:G55S	G	+	1	0	COL20A1	61399787	1.000000	0.71417	0.930000	0.37139	0.011000	0.07611	5.557000	0.67313	1.761000	0.52028	0.591000	0.81541	GGC		0.642	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		16	19	0	0	0	1	0	16	19				
ARHGAP21	57584	broad.mit.edu	37	10	24880205	24880205	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr10:24880205G>T	ENST00000396432.2	-	24	4585	c.4099C>A	c.(4099-4101)Cat>Aat	p.H1367N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1366					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAGTAAATGATCTATGTTT	0.448																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4099-4101)Cat>Aat		Rho GTPase activating protein 21							178.0	173.0	175.0					10																	24880205		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880205G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4099C>A	10.37:g.24880205G>T	ENSP00000379709:p.His1367Asn					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	p.H1367N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			24	4585	-			1366					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4099C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204825	0.79127	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481	T;T	0.12255	2.7;2.83	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	1366	Q5T5U3	RHG21_HUMAN	N	1367;816;1154	ENSP00000379709:H1367N;ENSP00000365604:H1154N	ENSP00000365604:H1154N	H	-	1	0	ARHGAP21	24920211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.805000	0.99149	2.814000	0.96858	0.655000	0.94253	CAT		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		28	55	1	0	8.4185e-14	1	9.03449e-14	28	55				
EPHB1	2047	broad.mit.edu	37	3	134670794	134670794	+	Silent	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:134670794C>T	ENST00000398015.3	+	3	1075	c.705C>T	c.(703-705)ccC>ccT	p.P235P	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	235	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGACGTGCCCATCAAACTCT	0.557																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(703-705)ccC>ccT		EPH receptor B1							173.0	170.0	171.0					3																	134670794		2099	4251	6350	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670794C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.705C>T	3.37:g.134670794C>T						EPHB1_ENST00000488154.1_Intron	p.P235P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1075	+			235			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.705C>T	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		65	79	0	0	0	1	0	65	79				
FAM179A	165186	broad.mit.edu	37	2	29259409	29259409	+	Silent	SNP	C	C	G	rs141848946	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:29259409C>G	ENST00000379558.4	+	18	2772	c.2421C>G	c.(2419-2421)gtC>gtG	p.V807V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.V752V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	807										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCAATAGGTCTTTGATGCTT	0.557																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2419-2421)gtC>gtG		family with sequence similarity 179, member A							86.0	76.0	79.0					2																	29259409		2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29259409C>G	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2421C>G	2.37:g.29259409C>G						FAM179A_ENST00000403861.2_Silent_p.V752V|FAM179A_ENST00000465300.1_3'UTR	p.V807V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2772	+			807					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2421C>G	CCDS1769.2																																																																																				0.557	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		16	25	0	0	0	1	0	16	25				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	77						8	77	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	173						9	173	---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131222909	131222909	+	Intron	DEL	A	A	-			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr9:131222909delA	ENST00000434106.3	+	4	486				ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372807.5_Frame_Shift_Del_p.I24fs|ODF2_ENST00000448249.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000393527.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000444119.2_Frame_Shift_Del_p.I24fs|ODF2_ENST00000535026.1_Frame_Shift_Del_p.I24fs	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACGTCCACATAAAAAAACTCC	0.572																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(70-72)atfs		outer dense fiber of sperm tails 2							122.0	98.0	106.0					9																	131222909		2203	4300	6503	SO:0001627	intron_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131222909delA	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-312A>-	9.37:g.131222909delA						ODF2_ENST00000372814.3_Intron|ODF2_ENST00000434106.2_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000444119.2_Frame_Shift_Del_p.I24fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000535026.1_Frame_Shift_Del_p.I24fs|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372807.5_Frame_Shift_Del_p.I24fs|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000448249.3_Frame_Shift_Del_p.I24fs	p.I24fs	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			5	657	+			0					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Frame_Shift_Del	DEL	ENST00000434106.3	37	c.72delA	CCDS56588.1																																																																																				0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			20	33						20	33	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061516	38061517	+	In_Frame_Ins	INS	-	-	CGC			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:38061516_38061517insCGC	ENST00000250448.2	-	2	533_534	c.472_473insGCG	c.(472-474)gac>gGCGac	p.157_158insG	FOXA1_ENST00000540786.1_In_Frame_Ins_p.124_125insG|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	157					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 regulatory region DNA binding (GO:0044212)	p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTCTTGGCGTcgccgccgccg	0.698																																						ENST00000250448.2																			1	Substitution - Missense(1)	p.D158N(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(472-474)cgc>GCGcgc		forkhead box A1																																				SO:0001652	inframe_insertion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061516_38061517insCGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.470_472dupGCG	14.37:g.38061523_38061525dupCGC	ENSP00000250448:p.Gly157_Gly157dup					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Ins_p.124_125insA	p.157_158insA	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	533_534	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		157					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Ins	INS	ENST00000250448.2	37	c.472_473insGCG	CCDS9665.1																																																																																				0.698	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	28						11	28	---	---	---	---
RP11-305B6.3	0	broad.mit.edu	37	14	44589519	44589520	+	lincRNA	DEL	TC	TC	-	rs560088231		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:44589519_44589520delTC	ENST00000553827.1	-	0	69																											TTGGAGTTCTTCAGCAGATTCT	0.391																																						ENST00000553827.1																			0																																																			0							g.chr14:44589519_44589520delTC																													14.37:g.44589519_44589520delTC														0	69	-									RNA	DEL	ENST00000553827.1	37																																																																																						0.391	RP11-305B6.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410013.1			17	34						17	34	---	---	---	---
SNHG24	101929369	broad.mit.edu	37	14	101443075	101443076	+	lincRNA	DEL	TT	TT	-	rs11467553	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:101443075_101443076delTT	ENST00000554693.2	+	0	548				SNORD113_ENST00000364166.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD113_ENST00000364630.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-18_ENST00000365272.1_RNA																							GGTATGTGACTTTTACCTCTTT	0.307														486	0.0970447	0.2284	0.0634	5008	,	,		18451	0.002		0.1133	False		,,,				2504	0.0245					ENST00000554693.2																			0																																																			0							g.chr14:101443075_101443076delTT																													14.37:g.101443077_101443078delTT														0	548	+									RNA	DEL	ENST00000554693.2	37																																																																																						0.307	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			2	4						2	4	---	---	---	---
