#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LCE2D	353141	broad.mit.edu	37	1	152636831	152636831	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:152636831C>T	ENST00000368784.1	+	2	305	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	84	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCACCGGCGCCGGCACCA	0.682																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(250-252)Cgc>Tgc		late cornified envelope 2D							39.0	53.0	48.0					1																	152636831		2192	4286	6478	SO:0001583	missense	353141				keratinization			g.chr1:152636831C>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.250C>T	1.37:g.152636831C>T	ENSP00000357773:p.Arg84Cys						p.R84C	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	305	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		84			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.250C>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	7.753	0.703781	0.15172	.	.	ENSG00000187223	ENST00000368784	T	0.03745	3.82	2.99	1.06	0.20224	.	.	.	.	.	T	0.00815	0.0027	N	0.16602	0.42	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47873	-0.9083	9	0.72032	D	0.01	.	4.8646	0.13602	0.0:0.6899:0.0:0.3101	.	84	Q5TA82	LCE2D_HUMAN	C	84	ENSP00000357773:R84C	ENSP00000357773:R84C	R	+	1	0	LCE2D	150903455	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.368000	0.07543	0.031000	0.15407	0.305000	0.20034	CGC		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		8	86	8	86	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204985658	204985658	+	Silent	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:204985658T>C	ENST00000401399.1	+	29	3913	c.3714T>C	c.(3712-3714)tcT>tcC	p.S1238S	NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000339876.6_Silent_p.S1238S|NFASC_ENST00000367172.4_Silent_p.S1345S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S			O94856	NFASC_HUMAN	neurofascin	1345					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTACTCTCTGGCCTAAC	0.567																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(4033-4035)tcT>tcC		neurofascin							107.0	95.0	99.0					1																	204985658		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985658T>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3714T>C	1.37:g.204985658T>C						NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000339876.6_Silent_p.S1238S	p.S1345S			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4363	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1345					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.4035T>C	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.312929	0.23908	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-1.56	0.08532	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28038	-1.0056	4	.	.	.	.	2.8974	0.05694	0.1286:0.4231:0.1306:0.3177	.	.	.	.	P	1039;296	.	.	L	+	2	0	NFASC	203252281	0.317000	0.24589	0.995000	0.50966	0.996000	0.88848	-0.423000	0.07034	-0.218000	0.10018	0.460000	0.39030	CTC		0.567	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		8	29	8	29	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160737746	160737746	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:160737746T>C	ENST00000263636.4	-	8	1279	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	LY75_ENST00000554112.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	418	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCTTCTTTGATATCTAAA	0.284																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1252-1254)Aaa>Gaa		lymphocyte antigen 75							130.0	124.0	126.0					2																	160737746		2203	4299	6502	SO:0001583	missense	4065							g.chr2:160737746T>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1252A>G	2.37:g.160737746T>C	ENSP00000263636:p.Lys418Glu					LY75_ENST00000554112.1_Missense_Mutation_p.K418E|LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E	p.K418E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	8	1279	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1252A>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013518	0.35511	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	6.05	2.14	0.27477	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37437	N	0.002091	T	0.09158	0.0226	N	0.14661	0.345	0.37333	D	0.910056	B;B;B;B	0.15930	0.002;0.015;0.008;0.007	B;B;B;B	0.16289	0.008;0.014;0.015;0.009	T	0.22382	-1.0218	10	0.13108	T	0.6	-14.5092	5.1736	0.15124	0.0:0.1777:0.2811:0.5412	.	36;418;418;418	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	E	418	ENSP00000451511:K418E;ENSP00000451446:K418E;ENSP00000263636:K418E;ENSP00000423463:K418E;ENSP00000421035:K418E	ENSP00000423463:K418E	K	-	1	0	LY75;LY75-CD302	160445992	0.985000	0.35326	0.997000	0.53966	0.966000	0.64601	0.251000	0.18257	0.504000	0.28082	0.528000	0.53228	AAA		0.284	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	79	6	79	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187495563	187495563	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:187495563G>A	ENST00000261023.3	+	5	837	c.563G>A	c.(562-564)gGa>gAa	p.G188E	ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	188					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TGTCAAGGAGGATTCAGCATT	0.303																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(562-564)gGa>gAa		integrin, alpha V							230.0	242.0	238.0					2																	187495563		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187495563G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.563G>A	2.37:g.187495563G>A	ENSP00000261023:p.Gly188Glu					ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E	p.G188E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	5	837	+			188					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.563G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571413	0.86542	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000433736	T;T	0.25250	1.81;1.81	5.97	5.97	0.96955	.	.	.	.	.	T	0.63200	0.2491	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70934	-0.4737	9	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	142;188	E7EWZ6;P06756	.;ITAV_HUMAN	E	188;188;142	ENSP00000261023:G188E;ENSP00000404291:G142E	ENSP00000261023:G188E	G	+	2	0	ITGAV	187203808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.966000	0.76073	2.836000	0.97738	0.655000	0.94253	GGA		0.303	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		16	169	16	169	---	---	---	---
HEMK1	51409	broad.mit.edu	37	3	50615277	50615277	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr3:50615277T>G	ENST00000232854.4	+	7	1187	c.635T>G	c.(634-636)aTt>aGt	p.I212S	HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	212					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CAGGACAGGATTTGGATCATC	0.557																																						ENST00000232854.4																			0				lung(3)	3						c.(634-636)aTt>aGt		HemK methyltransferase family member 1							174.0	153.0	160.0					3																	50615277		2203	4300	6503	SO:0001583	missense	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50615277T>G	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.635T>G	3.37:g.50615277T>G	ENSP00000232854:p.Ile212Ser					HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	7	1187	+			212						Missense_Mutation	SNP	ENST00000232854.4	37	c.635T>G	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170033	0.57584	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.17370	2.28;2.28;2.28	4.75	4.75	0.60458	Methyltransferase small (1);	0.204828	0.42682	D	0.000667	T	0.37785	0.1016	M	0.73430	2.235	0.47511	D	0.999444	P	0.51240	0.943	P	0.62382	0.901	T	0.19224	-1.0312	10	0.87932	D	0	-1.6885	11.2057	0.48769	0.0:0.0:0.0:1.0	.	212	Q9Y5R4	HEMK1_HUMAN	S	212	ENSP00000404843:I212S;ENSP00000232854:I212S;ENSP00000404334:I212S	ENSP00000232854:I212S	I	+	2	0	HEMK1	50590281	0.997000	0.39634	0.985000	0.45067	0.275000	0.26752	3.815000	0.55651	2.094000	0.63399	0.459000	0.35465	ATT		0.557	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		5	103	5	103	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241810	126241810	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:126241810A>C	ENST00000394329.3	+	1	4257	c.4244A>C	c.(4243-4245)gAc>gCc	p.D1415A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1415	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACTTTAATGACAATCCTCCT	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4243-4245)gAc>gCc		FAT atypical cadherin 4							141.0	132.0	135.0					4																	126241810		1861	4095	5956	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241810A>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4244A>C	4.37:g.126241810A>C	ENSP00000377862:p.Asp1415Ala						p.D1415A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4257	+			1415			Cadherin 13.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4244A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295626	0.81025	.	.	ENSG00000196159	ENST00000394329	T	0.71579	-0.58	4.87	4.87	0.63330	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36101	U	0.002792	D	0.85635	0.5742	M	0.92555	3.32	0.80722	D	1	D	0.63046	0.992	P	0.60286	0.872	D	0.89382	0.3682	10	0.72032	D	0.01	.	14.6255	0.68618	1.0:0.0:0.0:0.0	.	1415	Q6V0I7	FAT4_HUMAN	A	1415	ENSP00000377862:D1415A	ENSP00000377862:D1415A	D	+	2	0	FAT4	126461260	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.949000	0.93012	2.050000	0.60909	0.533000	0.62120	GAC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	188	4	188	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175896818	175896818	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:175896818C>A	ENST00000359240.3	+	5	812	c.142C>A	c.(142-144)Cct>Act	p.P48T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T|ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	48					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGCATGACACCTCCAGGCTG	0.512																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(142-144)Cct>Act		ADAM metallopeptidase domain 29							63.0	59.0	60.0					4																	175896818		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896818C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.142C>A	4.37:g.175896818C>A	ENSP00000352177:p.Pro48Thr					ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T	p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	812	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	48					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.142C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489533	0.04352	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	4.06	-8.12	0.01078	Peptidase M12B, propeptide (1);	1.535810	0.04628	U	0.403117	T	0.04003	0.0112	L	0.38953	1.18	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.36744	-0.9735	9	.	.	.	.	1.0871	0.01655	0.2872:0.1459:0.3434:0.2235	.	48	Q9UKF5	ADA29_HUMAN	T	48	ENSP00000352177:P48T;ENSP00000414544:P48T;ENSP00000427674:P48T;ENSP00000384229:P48T;ENSP00000423517:P48T	.	P	+	1	0	ADAM29	176133393	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.996000	0.03709	-2.615000	0.00443	-2.080000	0.00379	CCT		0.512	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				3	42	3	42	---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74014787	74014787	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:74014787G>A	ENST00000261416.7	+	11	1525	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	HEXB_ENST00000509579.1_5'Flank|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000511181.1_Missense_Mutation_p.D245N|GFM2_ENST00000515125.1_5'Flank	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	470					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAACCTCTTGATTTTGGCGG	0.413																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(733-735)Gat>Aat		hexosaminidase B (beta polypeptide)							157.0	160.0	159.0					5																	74014787		2203	4300	6503	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74014787G>A	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1408G>A	5.37:g.74014787G>A	ENSP00000261416:p.Asp470Asn					HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR	p.D245N			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	11	1645	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	470						Missense_Mutation	SNP	ENST00000261416.7	37	c.733G>A	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425688	0.25639	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.95342	-3.68;-3.68	5.98	-11.2	0.00127	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	1.075540	0.06985	N	0.820719	D	0.85115	0.5623	N	0.17764	0.52	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.69807	-0.5045	10	0.08179	T	0.78	-1.04	13.8818	0.63686	0.7344:0.1609:0.1047:0.0	.	470	P07686	HEXB_HUMAN	N	245;470	ENSP00000426285:D245N;ENSP00000261416:D470N	ENSP00000261416:D470N	D	+	1	0	HEXB	74050543	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.124000	0.10595	-1.801000	0.01245	-0.482000	0.04802	GAT		0.413	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		7	95	7	95	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171299876	171299876	+	Splice_Site	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:171299876C>A	ENST00000265094.5	-	9	1414	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	FBXW11_ENST00000393802.2_Splice_Site_p.R392M|FBXW11_ENST00000296933.6_Splice_Site_p.R413M|FBXW11_ENST00000425623.2_Splice_Site_p.R394M	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	426					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTACCCACCTAATGGTATT	0.463																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1237-1239)aGg>aTg		F-box and WD repeat domain containing 11							113.0	100.0	104.0					5																	171299876		2203	4300	6503	SO:0001630	splice_region_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299876C>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1277+1G>T	5.37:g.171299876C>A						FBXW11_ENST00000425623.2_Splice_Site_p.R394M|FBXW11_ENST00000265094.5_Splice_Site_p.R426M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M	p.R413M	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1608	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	426					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Splice_Site	SNP	ENST00000265094.5	37	c.1238G>T	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907996	0.92107	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.997	T	0.79680	-0.1702	9	.	.	.	-12.4067	19.3047	0.94157	0.0:1.0:0.0:0.0	.	394;392;426;413	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	M	413;426;392;394	ENSP00000296933:R413M;ENSP00000265094:R426M;ENSP00000377391:R392M;ENSP00000444929:R394M	.	R	-	2	0	FBXW11	171232481	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.770000	0.85390	2.652000	0.90054	0.655000	0.94253	AGG		0.463	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	Missense_Mutation	4	30	4	30	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578417	99578417	+	RNA	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:99578417C>G	ENST00000425474.1	+	0	33					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		GGTGTCTGTCCTGCTGTCTCT	0.582																																						ENST00000425474.1																			0																																																			646282							g.chr7:99578417C>G	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578417C>G								NR_036679.1						0	33	+									RNA	SNP	ENST00000425474.1	37																																																																																						0.582	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			14	155	14	155	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225.0	230.0	228.0					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	351	6	351	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448468	142448468	+	RNA	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:142448468A>C	ENST00000422143.2	+	0	129									T cell receptor beta variable 29-1																		GTCATCTCTCAAAAGCCAAGC	0.517																																						ENST00000422143.2																			0																				117.0	114.0	115.0					7																	142448468		1956	4150	6106			28558							g.chr7:142448468A>C	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448468A>C														0	129	+									RNA	SNP	ENST00000422143.2	37																																																																																						0.517	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		13	91	13	91	---	---	---	---
PROSC	11212	broad.mit.edu	37	8	37632949	37632949	+	Missense_Mutation	SNP	A	A	G	rs553228499		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:37632949A>G	ENST00000328195.3	+	6	614	c.547A>G	c.(547-549)Ata>Gta	p.I183V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	183					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GCTGATGACCATAGGAAGCTT	0.517													A|||	1	0.000199681	0.0	0.0	5008	,	,		19922	0.001		0.0	False		,,,				2504	0.0					ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(547-549)Ata>Gta		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						199.0	196.0	197.0					8																	37632949		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37632949A>G	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.547A>G	8.37:g.37632949A>G	ENSP00000333551:p.Ile183Val						p.I183V	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	614	+		Lung NSC(58;0.174)	183					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.547A>G	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072955	0.93950	.	.	ENSG00000147471	ENST00000328195;ENST00000523187;ENST00000523521	T;T;T	0.46451	0.87;0.87;0.87	5.8	5.8	0.92144	Alanine racemase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.64404	1.975	0.80722	D	1	D	0.55385	0.971	D	0.65443	0.935	T	0.64433	-0.6409	10	0.87932	D	0	-2.1283	15.7907	0.78357	1.0:0.0:0.0:0.0	.	183	O94903	PROSC_HUMAN	V	183;131;112	ENSP00000333551:I183V;ENSP00000427886:I131V;ENSP00000429425:I112V	ENSP00000333551:I183V	I	+	1	0	PROSC	37752107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.150000	0.94667	2.214000	0.71695	0.533000	0.62120	ATA		0.517	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		13	183	13	183	---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49641689	49641689	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:49641689C>G	ENST00000262103.3	-	5	568	c.488G>C	c.(487-489)gGg>gCg	p.G163A	EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000433756.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	163	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGACAGCTTCCCATCATGGTC	0.408																																						ENST00000433756.1																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(331-333)gGg>gCg		EF-hand calcium binding domain 1							114.0	97.0	103.0					8																	49641689		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49641689C>G		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.488G>C	8.37:g.49641689C>G	ENSP00000262103:p.Gly163Ala					EFCAB1_ENST00000262103.3_Missense_Mutation_p.G163A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron	p.G111A	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			4	491	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	163			EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.332G>C	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835805|4.835805	0.91117|0.91117	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	5.22|5.22	5.22|5.22	0.72569|0.72569	EF-hand-like domain (1);|.	0.043529|.	0.85682|.	D|.	0.000000|.	D|D	0.87908|0.87908	0.6296|0.6296	H|H	0.96916|0.96916	3.905|3.905	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;D|.	0.66196|.	0.858;0.942|.	D|D	0.91542|0.91542	0.5250|0.5250	9|5	.|.	.|.	.|.	.|.	16.3211|16.3211	0.82951|0.82951	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	111;163|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	A|C	111;163;163;111|29;80	ENSP00000400873:G111A;ENSP00000262103:G163A;ENSP00000430765:G111A|.	.|.	G|W	-|-	2|3	0|0	EFCAB1|EFCAB1	49804242|49804242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.352000|7.352000	0.79404|0.79404	2.710000|2.710000	0.92621|0.92621	0.555000|0.555000	0.69702|0.69702	GGG|TGG		0.408	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		3	50	3	50	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5919991	5919991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:5919991G>C	ENST00000399933.3	-	8	6004	c.6005C>G	c.(6004-6006)tCa>tGa	p.S2002*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2002										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGTCAGTGATACTGTTGG	0.433																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(6004-6006)tCa>tGa		KIAA2026							161.0	151.0	154.0					9																	5919991		1937	4141	6078	SO:0001587	stop_gained	158358							g.chr9:5919991G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.6005C>G	9.37:g.5919991G>C	ENSP00000382815:p.Ser2002*					KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	p.S2002*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	6004	-		Acute lymphoblastic leukemia(23;0.158)	2002					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.6005C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.641862	0.98406	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.69	5.69	0.88448	.	0.579070	0.15121	N	0.279377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-0.5874	14.0206	0.64553	0.0719:0.0:0.9281:0.0	.	.	.	.	X	2002;1972	.	ENSP00000370870:S1972X	S	-	2	0	KIAA2026	5909991	0.182000	0.23173	0.009000	0.14445	0.049000	0.14656	3.229000	0.51278	2.690000	0.91761	0.655000	0.94253	TCA		0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		7	103	7	103	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119202943	119202943	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:119202943G>T	ENST00000313400.4	-	22	3827	c.3727C>A	c.(3727-3729)Cac>Aac	p.H1243N	ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N|ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N			O75129	ASTN2_HUMAN	astrotactin 2	1243					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTTCATAGTGAGAGTTGTAG	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3727-3729)Cac>Aac		astrotactin 2							140.0	117.0	125.0					9																	119202943		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119202943G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3727C>A	9.37:g.119202943G>T	ENSP00000314038:p.His1243Asn					ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N	p.H1243N			O75129	ASTN2_HUMAN			22	3827	-			1243					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3727C>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250207	0.80024	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15718	2.83;2.82;2.4;2.41;2.64;2.84;2.41	5.91	5.91	0.95273	.	0.103590	0.64402	D	0.000003	T	0.28134	0.0694	L	0.27053	0.805	0.51482	D	0.99992	P;P;P;P;P;P;P	0.52316	0.807;0.886;0.952;0.92;0.935;0.886;0.886	B;P;P;B;P;P;P	0.56434	0.278;0.461;0.558;0.355;0.798;0.461;0.461	T	0.00888	-1.1526	10	0.87932	D	0	-30.0819	20.2985	0.98592	0.0:0.0:1.0:0.0	.	295;295;1192;1243;1239;295;344	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	N	1243;1239;344;295;966;1192;295	ENSP00000314038:H1243N;ENSP00000363108:H1239N;ENSP00000288520:H344N;ENSP00000339925:H295N;ENSP00000363098:H966N;ENSP00000354504:H1192N;ENSP00000355116:H295N	ENSP00000288520:H344N	H	-	1	0	ASTN2	118242764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.765000	0.98953	2.793000	0.96121	0.655000	0.94253	CAC		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	58	7	58	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131860406	131860406	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:131860406G>A	ENST00000318080.2	-	11	1644	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	450					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTTCATAGGTGGCACATGCCT	0.627																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1348-1350)gcC>gcT		carnitine O-acetyltransferase	L-Carnitine(DB00583)						133.0	130.0	131.0					9																	131860406		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860406G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1350C>T	9.37:g.131860406G>A						RP11-247A12.1_ENST00000434250.1_RNA	p.A450A	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1644	-			450					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.1350C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390676	0.25118	.	.	ENSG00000095321	ENST00000455396	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.69824	0.3154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68926	-0.5280	4	.	.	.	-37.7285	13.9758	0.64273	0.0731:0.0:0.9269:0.0	.	.	.	.	Y	49	.	.	H	-	1	0	CRAT	130900227	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.939000	0.56591	1.391000	0.46566	0.561000	0.74099	CAC		0.627	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	139	7	139	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118636057	118636057	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr11:118636057A>C	ENST00000526070.2	-	6	866	c.506T>G	c.(505-507)gTg>gGg	p.V169G	DDX6_ENST00000264018.4_Missense_Mutation_p.V169G|DDX6_ENST00000534980.1_Missense_Mutation_p.V169G	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	169	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAACAATCACCATTGCTGA	0.408			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(505-507)gTg>gGg		DEAD (Asp-Glu-Ala-Asp) box helicase 6							190.0	182.0	185.0					11																	118636057		1883	4113	5996	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118636057A>C	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.506T>G	11.37:g.118636057A>C	ENSP00000433704:p.Val169Gly					DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G	p.V169G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	6	811	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	169			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.506T>G	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145370	0.77888	.	.	ENSG00000110367	ENST00000264018;ENST00000545741;ENST00000534980;ENST00000526070	T;T;T	0.07688	3.17;3.17;3.17	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.051746	0.85682	D	0.000000	T	0.36690	0.0976	M	0.93150	3.385	0.80722	D	1	D	0.62365	0.991	P	0.61132	0.884	T	0.51076	-0.8751	10	0.87932	D	0	.	15.7053	0.77573	1.0:0.0:0.0:0.0	.	169	P26196	DDX6_HUMAN	G	169	ENSP00000264018:V169G;ENSP00000442266:V169G;ENSP00000433704:V169G	ENSP00000264018:V169G	V	-	2	0	DDX6	118141267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.667000	0.54547	2.180000	0.69256	0.528000	0.53228	GTG		0.408	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		27	142	27	142	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39265100	39265100	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr13:39265100G>C	ENST00000280481.7	+	1	3835	c.3619G>C	c.(3619-3621)Gta>Cta	p.V1207L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1207					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGAGTCTGGTAATTGATAC	0.418																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3619-3621)Gta>Cta		FRAS1 related extracellular matrix protein 2							275.0	260.0	265.0					13																	39265100		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265100G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3619G>C	13.37:g.39265100G>C	ENSP00000280481:p.Val1207Leu						p.V1207L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3835	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1207					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3619G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283281	0.23392	.	.	ENSG00000150893	ENST00000280481	T	0.36520	1.25	6.08	5.23	0.72850	.	0.057572	0.64402	N	0.000002	T	0.36441	0.0967	L	0.53671	1.685	0.80722	D	1	P	0.45078	0.85	B	0.38921	0.285	T	0.20140	-1.0284	10	0.42905	T	0.14	.	17.4587	0.87614	0.0:0.1243:0.8757:0.0	.	1207	Q5SZK8	FREM2_HUMAN	L	1207	ENSP00000280481:V1207L	ENSP00000280481:V1207L	V	+	1	0	FREM2	38163100	1.000000	0.71417	0.994000	0.49952	0.366000	0.29705	4.939000	0.63526	1.567000	0.49668	-0.176000	0.13171	GTA		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		46	293	46	293	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560879	32560879	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:32560879G>A	ENST00000345122.3	+	2	1319	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	335					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAAAAGGAGAGAAGAGTAT	0.313																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1003-1005)aGa>aAa		Rho GTPase activating protein 5							66.0	71.0	70.0					14																	32560879		2197	4286	6483	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560879G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1004G>A	14.37:g.32560879G>A	ENSP00000371897:p.Arg335Lys					ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K	p.R335K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1319	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		335					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1004G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774502	0.02951	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.64	3.8	0.43715	.	0.047083	0.85682	D	0.000000	T	0.07052	0.0179	L	0.33485	1.01	0.38686	D	0.952646	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.008	T	0.22591	-1.0212	10	0.34782	T	0.22	.	9.275	0.37694	0.2896:0.0:0.7104:0.0	.	335;335	Q13017-2;Q13017	.;RHG05_HUMAN	K	335	ENSP00000452222:R335K;ENSP00000441692:R335K;ENSP00000371897:R335K;ENSP00000393307:R335K	ENSP00000371897:R335K	R	+	2	0	ARHGAP5	31630630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.985000	0.63845	1.380000	0.46344	0.563000	0.77884	AGA		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		11	88	11	88	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65270402	65270402	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:65270402T>A	ENST00000389721.5	-	3	429	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389722.3_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	133	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGAGCCCATGTTCTCCAGG	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(397-399)Atg>Ttg		spectrin, beta, erythrocytic							116.0	100.0	105.0					14																	65270402		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65270402T>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.397A>T	14.37:g.65270402T>A	ENSP00000374371:p.Met133Leu					SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389721.5_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L	p.M133L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	3	450	-		all_lung(585;4.15e-09)	133			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.397A>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584426	0.65992	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.21	5.21	0.72293	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.02697	-0.525	0.58432	D	0.999998	B;B	0.31581	0.201;0.329	B;B	0.35688	0.196;0.208	T	0.34378	-0.9831	10	0.39692	T	0.17	.	14.371	0.66840	0.0:0.0:0.0:1.0	.	133;137	P11277;Q59FP5	SPTB1_HUMAN;.	L	137;133;133;133;133;133	ENSP00000374372:M133L;ENSP00000451752:M133L;ENSP00000374371:M133L;ENSP00000443882:M133L;ENSP00000374370:M133L	ENSP00000374370:M133L	M	-	1	0	SPTB	64340155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.098000	0.63641	0.460000	0.39030	ATG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	42	4	42	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25321077	25321077	+	RNA	SNP	G	G	C	rs540876214		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:25321077G>C	ENST00000549804.2	+	0	1109				SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ACTGTGCATGGATCAATGATG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		23736	0.001		0.0	False		,,,				2504	0.0					ENST00000549804.2																			0																				95.0	86.0	89.0					15																	25321077		876	1991	2867			104472715							g.chr15:25321077G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25321077G>C						SNORD116-11_ENST00000383882.1_RNA								0	1109	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.448	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			6	50	6	50	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35207358	35207358	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:35207358C>T	ENST00000156471.5	-	16	1590	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	455					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCAAATTCAATTTGGGAA	0.363																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1363-1365)ttG>ttA		aquarius intron-binding spliceosomal factor							74.0	64.0	67.0					15																	35207358		1819	4082	5901	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35207358C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1365G>A	15.37:g.35207358C>T							p.L455L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	16	1590	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	455					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.1365G>A	CCDS42013.1																																																																																				0.363	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		3	41	3	41	---	---	---	---
SNX22	79856	broad.mit.edu	37	15	64445496	64445496	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:64445496G>T	ENST00000325881.4	+	4	376	c.317G>T	c.(316-318)aGa>aTa	p.R106I		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						GAATTCCTGAGACTTCGGCAC	0.597																																						ENST00000325881.4																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(316-318)aGa>aTa		sorting nexin 22							57.0	57.0	57.0					15																	64445496		2203	4300	6503	SO:0001583	missense	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64445496G>T	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.317G>T	15.37:g.64445496G>T	ENSP00000323435:p.Arg106Ile						p.R106I	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN			4	376	+			106			PX.		Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.317G>T	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362679	0.41902	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.29917	1.55	5.51	1.47	0.22746	Phox homologous domain (4);	0.302498	0.41194	D	0.000923	T	0.21761	0.0524	L	0.34521	1.04	0.41871	D	0.990275	P;B	0.44877	0.845;0.259	P;B	0.44897	0.463;0.087	T	0.02877	-1.1099	10	0.46703	T	0.11	-14.7904	3.9849	0.09511	0.2774:0.0:0.5505:0.1721	.	106;78	Q96L94;Q6ZTF9	SNX22_HUMAN;.	I	78;106	ENSP00000323435:R106I	ENSP00000323435:R106I	R	+	2	0	SNX22	62232549	1.000000	0.71417	0.994000	0.49952	0.004000	0.04260	1.671000	0.37513	0.677000	0.31305	-0.314000	0.08810	AGA		0.597	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		3	40	3	40	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102291938	102291938	+	RNA	SNP	G	G	A	rs558075940	byFrequency	TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:102291938G>A	ENST00000561463.1	+	0	704									DNM1 pseudogene 47																		TGCATGCACCGCCTCATGGGG	0.587													.|||	2	0.000399361	0.0	0.0	5008	,	,		25351	0.002		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			100216544							g.chr15:102291938G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102291938G>A														0	704	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	29	5	29	---	---	---	---
CD68	968	broad.mit.edu	37	17	7484694	7484694	+	Splice_Site	SNP	A	A	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:7484694A>T	ENST00000250092.6	+	6	1142		c.e6-1		AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_5'Flank|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000396501.4_5'Flank|CD68_ENST00000380498.6_Splice_Site|AC113189.5_ENST00000573187.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000250124.6_5'Flank	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule						cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						TCCTTCCGCCAGGTTTCTCCT	0.567																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.e6-1		CD68 molecule							232.0	190.0	204.0					17																	7484694		2203	4300	6503	SO:0001630	splice_region_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484694A>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.932-1A>T	17.37:g.7484694A>T						CD68_ENST00000380498.6_Splice_Site		NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			6	1142	+								B4DVT4|Q53HR6|Q53XI3|Q96BI7	Splice_Site	SNP	ENST00000250092.6	37		CCDS11114.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845289	0.71603	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4306	0.50038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD68	7425418	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.487000	0.45268	2.197000	0.70478	0.533000	0.62120	.		0.567	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251	Intron	4	160	4	160	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10355471	10355471	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:10355471G>A	ENST00000255381.2	-	27	3635	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1175					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTTTCTGGAACTCAGCCT	0.597																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3523-3525)ttC>ttT		myosin, heavy chain 4, skeletal muscle							97.0	100.0	99.0					17																	10355471		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355471G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3525C>T	17.37:g.10355471G>A						RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.F1175F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3635	-			1175						Silent	SNP	ENST00000255381.2	37	c.3525C>T	CCDS11154.1																																																																																				0.597	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	161	5	161	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32964623	32964623	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:32964623C>A	ENST00000321639.5	+	10	2655	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	776						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCGTGCCACCCACAGAAGAC	0.736																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2326-2328)cCc>cAc		transmembrane protein 132E							21.0	24.0	23.0					17																	32964623		2201	4299	6500	SO:0001583	missense	124842					integral to membrane		g.chr17:32964623C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2327C>A	17.37:g.32964623C>A	ENSP00000316532:p.Pro776His						p.P776H	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2655	+			776					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2327C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420459	0.62622	.	.	ENSG00000181291	ENST00000321639	T	0.17370	2.28	4.53	4.53	0.55603	.	0.457306	0.22735	N	0.056264	T	0.18964	0.0455	N	0.11427	0.14	0.49051	D	0.999742	D	0.65815	0.995	P	0.55824	0.785	T	0.13415	-1.0510	10	0.44086	T	0.13	-30.9648	16.4414	0.83901	0.0:1.0:0.0:0.0	.	776	Q6IEE7	T132E_HUMAN	H	776	ENSP00000316532:P776H	ENSP00000316532:P776H	P	+	2	0	TMEM132E	29988736	1.000000	0.71417	0.976000	0.42696	0.739000	0.42172	4.153000	0.58118	2.357000	0.79964	0.498000	0.49722	CCC		0.736	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	27	4	27	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8130923	8130923	+	Silent	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:8130923A>C	ENST00000600128.1	-	64	8724	c.8310T>G	c.(8308-8310)ccT>ccG	p.P2770P	FBN3_ENST00000270509.2_Silent_p.P2770P|FBN3_ENST00000601739.1_Silent_p.P2770P			Q75N90	FBN3_HUMAN	fibrillin 3	2770						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTTCCAGGCCCCGGCC	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8308-8310)ccT>ccG		fibrillin 3							42.0	45.0	44.0					19																	8130923		2202	4299	6501	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130923A>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8310T>G	19.37:g.8130923A>C						FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P	p.P2770P			Q75N90	FBN3_HUMAN			64	8724	-			2770					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8310T>G	CCDS12196.1																																																																																				0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	51	14	51	---	---	---	---
SLC44A2	57153	broad.mit.edu	37	19	10747165	10747165	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:10747165C>T	ENST00000335757.5	+	15	1776	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M|SLC44A2_ENST00000586078.1_Missense_Mutation_p.T467M			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	467					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCAGGTCACGCTGGCCGGG	0.667																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1399-1401)aCg>aTg		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						67.0	69.0	68.0					19																	10747165		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10747165C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1400C>T	19.37:g.10747165C>T	ENSP00000336888:p.Thr467Met					SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M	p.T467M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		15	1509	+			467					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1400C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853727	0.91355	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.27720	1.65;1.65	5.8	5.8	0.92144	.	0.092361	0.64402	D	0.000001	T	0.66848	0.2831	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.982;0.986;0.982	T	0.74334	-0.3699	10	0.72032	D	0.01	-27.0188	18.8323	0.92145	0.0:1.0:0.0:0.0	.	467;467;465	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	M	465;467;467	ENSP00000385135:T465M;ENSP00000336888:T467M	ENSP00000336888:T467M	T	+	2	0	SLC44A2	10608165	1.000000	0.71417	0.964000	0.40570	0.784000	0.44337	7.744000	0.85034	2.755000	0.94549	0.655000	0.94253	ACG		0.667	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			9	82	9	82	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44832431	44832431	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:44832431C>G	ENST00000337401.4	-	5	1985	c.1897G>C	c.(1897-1899)Gga>Cga	p.G633R	ZNF112_ENST00000354340.4_Missense_Mutation_p.G627R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTTTTTCTCCAGTGTGGACT	0.453																																						ENST00000354340.4																			0											c.(1879-1881)Gga>Cga		zinc finger protein 112							125.0	126.0	125.0					19																	44832431		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832431C>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1897G>C	19.37:g.44832431C>G	ENSP00000337081:p.Gly633Arg					ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	p.G627R	NM_013380.3	NP_037512.3					4	1930	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1879G>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655759	0.67586	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.01629	4.72;4.72;4.72	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33235	N	0.005123	T	0.08626	0.0214	L	0.56280	1.765	0.44380	D	0.997281	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02774	-1.1112	10	0.87932	D	0	-23.2349	17.4332	0.87544	0.0:1.0:0.0:0.0	.	632;650;633	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	633;633;627;650;632	ENSP00000337081:G633R;ENSP00000346305:G627R;ENSP00000441990:G650R	ENSP00000253426:G632R	G	-	1	0	ZNF285	49524271	0.254000	0.23992	0.994000	0.49952	0.999000	0.98932	2.214000	0.42853	2.484000	0.83849	0.655000	0.94253	GGA		0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		11	232	11	232	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420529	58420529	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:58420529C>A	ENST00000312026.5	-	3	1281	c.1117G>T	c.(1117-1119)Gtt>Ttt	p.V373F	ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F|ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCAGTGTGAACACGCTGATGG	0.448																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1117-1119)Gtt>Ttt		zinc finger protein 417							130.0	122.0	125.0					19																	58420529		2203	4299	6502	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420529C>A	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1117G>T	19.37:g.58420529C>A	ENSP00000311319:p.Val373Phe					ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F	p.V373F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1281	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	373					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1117G>T	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332815	0.41297	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.01025	5.43;5.43	1.66	0.542	0.17174	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	L	0.61218	1.895	0.23661	N	0.997171	D;D	0.58620	0.96;0.983	P;P	0.61328	0.887;0.759	T	0.45775	-0.9238	9	0.52906	T	0.07	.	3.7833	0.08689	0.0:0.527:0.0:0.473	.	373;373	F5H0M9;Q8TAU3	.;ZN417_HUMAN	F	373;174	ENSP00000311319:V373F;ENSP00000442760:V174F	ENSP00000311319:V373F	V	-	1	0	ZNF417	63112341	0.000000	0.05858	0.021000	0.16686	0.142000	0.21351	-1.276000	0.02815	0.223000	0.20920	0.306000	0.20318	GTT		0.448	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		10	192	10	192	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36708179	36708179	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr22:36708179T>A	ENST00000216181.5	-	14	1873	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	548	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCCTGCTCCTGCATCACCTT	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1642-1644)cAg>cTg		myosin, heavy chain 9, non-muscle							148.0	118.0	128.0					22																	36708179		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708179T>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1643A>T	22.37:g.36708179T>A	ENSP00000216181:p.Gln548Leu						p.Q548L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1873	-			548			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1643A>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.685190	0.68157	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72505	-0.66	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.41124	1.26	0.80722	D	1	P	0.37864	0.61	B	0.35240	0.198	T	0.68221	-0.5466	10	0.87932	D	0	.	13.9237	0.63950	0.0:0.0:0.0:1.0	.	548	P35579	MYH9_HUMAN	L	412;548	ENSP00000216181:Q548L	ENSP00000216181:Q548L	Q	-	2	0	MYH9	35038125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.833000	0.53350	0.459000	0.35465	CAG		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	64	8	64	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12938245	12938245	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:12938245C>T	ENST00000218032.6	+	2	1173	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	TLR8_ENST00000311912.5_Silent_p.N380N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	362					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTCCAGAAACTTCTCTAAAC	0.403																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1084-1086)aaC>aaT		toll-like receptor 8							81.0	85.0	83.0					X																	12938245		2196	4293	6489	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938245C>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1086C>T	X.37:g.12938245C>T						TLR8_ENST00000311912.5_Silent_p.N380N	p.N362N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1173	+			362					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.1086C>T	CCDS14152.1																																																																																				0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		11	106	11	106	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018291	23018291	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:23018291G>T	ENST00000327968.5	+	1	205	c.117G>T	c.(115-117)caG>caT	p.Q39H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	39						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCGGCCATCAGGGACCGAGAG	0.542																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(115-117)caG>caT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							52.0	49.0	50.0					X																	23018291		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018291G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.117G>T	X.37:g.23018291G>T	ENSP00000368667:p.Gln39His					RP11-40F8.2_ENST00000455399.1_lincRNA	p.Q39H	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	205	+			39					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.117G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773792	0.16051	.	.	ENSG00000184735	ENST00000327968	T	0.21191	2.02	3.21	-2.18	0.07037	.	3.239880	0.01501	U	0.017511	T	0.12774	0.0310	N	0.24115	0.695	0.09310	N	1	P	0.44090	0.826	B	0.38056	0.264	T	0.10776	-1.0615	10	0.45353	T	0.12	.	3.4022	0.07328	0.2333:0.0:0.2567:0.51	.	39	Q86TM3	DDX53_HUMAN	H	39	ENSP00000368667:Q39H	ENSP00000368667:Q39H	Q	+	3	2	DDX53	22928212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.455000	0.02379	-0.739000	0.04809	-0.222000	0.12452	CAG		0.542	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		4	13	4	13	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425375	71425375	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:71425375C>G	ENST00000334463.3	-	2	3377	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S958T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1081					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTACACTACTGGGTATTTG	0.388																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2872-2874)aGt>aCt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							74.0	77.0	76.0					X																	71425375		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425375C>G	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3242G>C	X.37:g.71425375C>G	ENSP00000334675:p.Ser1081Thr					ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T|PIN4_ENST00000423432.2_Intron	p.S958T			Q2NKX8	ERC6L_HUMAN			3	3475	-	Renal(35;0.156)		1081					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2873G>C	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	4.839	0.155906	0.09236	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91295	-2.79;-2.82	5.58	-3.99	0.04069	.	.	.	.	.	T	0.77452	0.4132	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.21360	0.034	T	0.63950	-0.6521	9	0.59425	D	0.04	0.3227	7.7224	0.28740	0.1553:0.6117:0.0:0.233	.	1081	Q2NKX8	ERC6L_HUMAN	T	958;1081	ENSP00000362761:S958T;ENSP00000334675:S1081T	ENSP00000334675:S1081T	S	-	2	0	ERCC6L	71342100	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.471000	0.06631	-0.763000	0.04658	-0.390000	0.06520	AGT		0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		9	60	9	60	---	---	---	---
ASPA	443	broad.mit.edu	37	17	3386885	3386885	+	Splice_Site	DEL	G	G	-			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:3386885delG	ENST00000263080.2	+	3	683	c.525delG	c.(523-525)gtg>gt	p.V175fs	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Splice_Site_p.V175fs	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	175					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTATCCTGTGGGTAAGTCAT	0.383																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(523-525)gtg>gt		aspartoacylase	L-Aspartic Acid(DB00128)						137.0	122.0	127.0					17																	3386885		2203	4300	6503	SO:0001630	splice_region_variant	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3386885delG	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.526+1G>-	17.37:g.3386885delG						ASPA_ENST00000456349.2_Splice_Site_p.V175fs|SPATA22_ENST00000541913.1_Intron	p.V175fs	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			3	683	+			175						Splice_Site	DEL	ENST00000263080.2	37	c.525delG	CCDS11028.1																																																																																				0.383	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	Frame_Shift_Del	12	113	12	113	---	---	---	---
